부산대학교 도서관

Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Dincer, Yasemin ; Vill, Katharina ; Distelmaier, Felix ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Havránková, Petra ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Pavelekova, Petra ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Leineweber, Birgit ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Schatz, Ulrich A ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Prokisch, Holger ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Brunet, Theresa ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Weise, David ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Wortmann, Saskia B ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ceballos-Baumann, Andres ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane

In The Lancet Neurology November 2020 19(11):908-918

Boone PM; Erdin S; Mohamed A; Haghshenas S; Faour KNW; Kao E; Fu J; Auwerx C; Harripaul R; Jana B; Springer D; Hallstrom G; de Esch CEF; Denhoff E; Holmes L; Mohajeri K; Lemanski J; Kerkhof J; McConkey H; Rzasa J; McCune MJ; Levy MA; Grafstein J; Larson M; Wright Z; Beauchamp RL; Lucente D; Jamra RA; Agrawal N; Agrawal P; Andersen EF; Argilli E; Araiza R; Ballal S; Baxter MF; Bergant G; Bertsche A; Bhavsar R; Bortola DR; Bothe V; Brasch-Andersen C; MPhil DB; Bruel AL; Buchanan C; Burt ND; Carvalho LML; Chiriatti L; Cogne B; Collins R; Crunk A; Currall B; Delahaye-Duriez A; Delanne J; Denommé-Pichon AS; Devriendt K; Domingo A; Duncan L; Faivre L; Famularo L; Fulton A; Genetti C; Harel T; Havlovicova M; Higgs J; Houlier M; Iascone M; Immken L; Isidor B; Kaiser FJ; Karbone K; Kenna M; Khan A; Kimmig LK; Kleefstra T; Kraus EM; Krepischi ACV; Krey I; Ladda R; Lanoue L; Caignec CL; Lewis ZK; Lima G; Lynch SA; Macek M; Maier O; Maitz S; Male A; Malikova M; McKay V; Moldovan O; Monteil D; Oliveira MM; Munasinghe J; Nakamori S; Neuser S; Nizon M; Nuttle X; O'Keefe K; Orec L; Parenti I; Peterlin B; Pfundt R; Pouncey J; Radio FC; Robert L; Rodan L; Rosenberg-Fogler H; Rosenfeld JA; Safraou H; Salani M; Schliesske S; Seaby EG; Sell S; Eliot Shearer A; Sherr E; Shillington A; Siebold D; Sinnema M; Smith L; Stegmann APA; Stevens C; Stevens S; Surette E; Tartaglia M; Taylor JC; Thompson ML; Tørring PM; Mau Them FT; Tsoulaki O; Umair M; Vanhoutte E; Vincent M; Vitobello A; von Wintzingerode L; Watt A; Wayhelova M; Wentzensen IM; Wilson W; Wojcik MH; Yuan B; Zampino G; Srivastava S; Westphal DS; Riedhammer KM; Joyce E; Yadav R; Gusella J; Tai DJC; Sadikovic B; Pfeifer KE; Talkowski ME

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Mansour B; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Lemberg K; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne and University Hospital Cologne, Cologne, Germany.; Schneider R; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Saida K; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Elmubarak I; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Yu S; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Yousef K; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Nicolas Frank C; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Riedhammer KM; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Department of Nephrology, Klinikum Rechts Der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Zahoor MY; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Kolvenbach CM; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Department of Pediatrics I, Medical Faculty, University Children's Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Merz LM; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Department of Pediatrics, University Hospital Leipzig, Leipzig, Germany.; Mertens ND; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Bao A; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Salmanullah D; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Kalkar G; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Hölzel S; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Zion E; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Marchuk D; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Lomjansook K; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Braun A; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Franken GAC; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Eid LA; Kidney Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Awad HSH; Kidney Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Saffar M; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab , Emirates University, Abu Dhabi, United Arab Emirates.; Soliman NA; Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.; Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Nabhan MM; Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.; Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.; Kari JA; Pediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; El Desoky S; Pediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Shalaby MA; Pediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Ooda S; Experimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Fathy HM; Department of Pediatrics, Alexandria Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al Nasser, Kuwait.; Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Shril S; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Somers MJG; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; Buerger F; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hamburg Center for Kidney Health (HCKH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hildebrandt F; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA. friedhelm.hildebrandt@childrens.harvard.edu.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M; Nagel, Mato; Beck, Bodo B; Choi, Mira; Gollasch, Maik; Bergmann, Carsten; Sonntag, Joseph E; Troesch, Victoria; Stock, Johanna; Gross, Oliver

Nephrology Dialysis Transplantation. Dec2022, Vol. 37 Issue 12, p2496-2504. 9p.

Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan

Human Molecular Genetics; 9/15/2022, Vol. 31 Issue 18, p3083-3094, 12p

Lemberg K; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne and University Hospital Cologne, Cologne, Germany.; Shalaby MA; Pediatric Nephrology Center of Excellence, Department of Pediatrics, King Abdulaziz University, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Zion E; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Saida K; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Yousef K; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Schneider R; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Mertens ND; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Mansour B; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Kolvenbach CM; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Merz LM; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Leipzig, Leipzig, Germany.; Riedhammer KM; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Braun A; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Hölzel S; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Yu S; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Lomjansook K; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Kalkar G; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Marchuk D; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Elmubarak I; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Franken GAC; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; Shril S; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; El Desoky S; Pediatric Nephrology Center of Excellence, Department of Pediatrics, King Abdulaziz University, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Kari JA; Pediatric Nephrology Center of Excellence, Department of Pediatrics, King Abdulaziz University, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Buerger F; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hamburg Center for Kidney Health, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Hildebrandt F; Division of Nephrology, Boston Children's Hospital, HMS, Boston, Massachusetts, USA.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria.; Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.; Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany.; Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Simmendinger H; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Tasic V; Medical Faculty of Skopje, University Children's Hospital, Macedonia.; Putnik J; Institute for Mother and Child Health Care of Serbia 'Dr Vukan Čupić', Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; Abazi-Emini N; Medical Faculty of Skopje, University Children's Hospital, Macedonia.; Stajic N; Institute for Mother and Child Health Care of Serbia 'Dr Vukan Čupić', Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; Berutti R; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Weidenbusch M; Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians University, Munich, Germany.; Patzer L; Department of Pediatric Nephrology, Children's Hospital St. Elisabeth and St. Barbara, Halle/Saale, Germany.; Lungu A; Pediatric Nephrology Department, Fundeni Clinical Institute, Bucharest, Romania.; Milosevski-Lomic G; Institute for Mother and Child Health Care of Serbia 'Dr Vukan Čupić', Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; Günthner R; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Braunisch MC; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Manso Bazús C; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurosciences, Boystown National Research Hospital, Boystown, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ammouri F; The University of Kansas Health System, Westwood, KS, USA.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Suter AA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Mercier S; Department of Medical Genetics, CHU Nantes, Nantes, France.; Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France.; Cogné B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Deb W; Department of Medical Genetics, CHU Nantes, Nantes, France.; Besnard T; Department of Medical Genetics, CHU Nantes, Nantes, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Linden T; University Children's Hospital, Klinikum Oldenburg, Department of Neuropediatrics, Oldenburg, Germany.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Ibrahim N; Lahore College for Women University, Lahore, Pakistan.; Naz S; Lahore College for Women University, Lahore, Pakistan.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Elloumi HZ; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Zou F; GeneDx, Gaithersburg, MD, USA.; Kahle JJ; GeneDx, Gaithersburg, MD, USA.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Delrue MA; Department of Genetics, Université de Montréal, Sainte-Justine University Hospital, Montreal, Canada.; Almeida PM; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Ramos F; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Centro de Diagnóstico Pré-natal, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Quinlan A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Robertson S; Department of Pediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.; Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.; Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Alsharhan H; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Health science center, College of Medicine, Kuwait University, P.O. Box 24923, Safat, Kuwait.; Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; McKee S; Belfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern, Ireland.; Moresco A; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Ignat AD; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Banneau G; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Kuerbitz J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Rzucidlo S; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Sell SS; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Gordon P; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Halleb Y; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Stoeva R; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Al Masseri Z; Department of Pediatrics, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Dammam, Saudi Arabia.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Krüger Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Steigerwald CG; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Faust H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Müller-Nedebock A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Génétique des Anomalies Du Développement, INSERM 123, Université de Bourgogne, Dijon, France.; Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Braunisch MC; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Großewinkelmann CM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Menke M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Hannane N; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Berutti R; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Ćomić J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Günthner R; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Riedhammer KM; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, Munich, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Riedhammer, Korbinian M; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; Karnebeek, Clara D van; Meitinger, Thomas; Krägeloh-Mann, Ingeborg; Vill, Katharina

Brain: A Journal of Neurology. Feb2021, Vol. 144 Issue 2, p411-419. 9p.

Krüger BM; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Jens A; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neuhaus A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Berutti R; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; de Fallois J; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Petzold F; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Münch J; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Kowald J; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Lindner TH; Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany.; Budde K; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Brüning KK; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Haas J; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Brigl CB; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Amann K; Department of Nephropathology, Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.; Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, North Macedonia.; Abazi-Emini N; University Children's Hospital, Medical Faculty of Skopje, Skopje, North Macedonia.; Nushi-Stavileci V; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.; Putnik J; Department of Nephrology, Institute for Maternal and Child Health Care of Serbia 'Dr Vukan Čupić', Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Stajić N; Department of Nephrology, Institute for Maternal and Child Health Care of Serbia 'Dr Vukan Čupić', Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Seelow E; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Hammett C; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Eckardt KU; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Schrezenmeier EV; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; Halbritter J; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; et al

Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Tilch E; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Eyring K; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Vill K; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.; Redler S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany.; Tasic V; University Children's Hospital, Medical Faculty of Skopje, North Macedonia.; Schmiedeke E; Clinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-Mitte, Bremen, Germany.; Schäfer FM; Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany.; Abazi-Emini N; University Children's Hospital, Medical Faculty of Skopje, North Macedonia.; Jenetzky E; Institute of Integrative Medicine, Witten/Herdecke University, Herdecke, Germany.; Department of Pediatric and Adolescent Psychiatry and Psychotherapy, University Medical Centre, Johannes Gutenberg University of Mainz, Mainz, Germany.; Schwarzer N; SoMA, The German Patient Support Organization for Anorectal Malformations and Hirschsprung Disease, Munich, Germany.; Widenmann A; Patient Organisation for Esophageal Diseases KEKS e.V., Stuttgart, Germany.; Lacher M; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany.; Zech M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute of Advanced Study, Technical University of Munich, Garching, Germany.; Grasshoff-Derr S; Pediatric Surgery Unit, Buergerhospital and Clementine Kinderhospital, Frankfurt, Germany.; Geßner M; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantatione.V.), Munich, Germany.; Kabs C; Department of Paediatrics Surgery, Muenchen KlinikgGmbH, Munich Clinic Schwabing, Munich, Germany.; Seitz B; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantatione.V.), Munich, Germany.; Heydweiller AC; Department of General, Visceral, Vascular and Thoracic Surgery, Unit of Pediatric Surgery, University Hospital Bonn, Bonn, Germany.; Muensterer O; Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.; Lange-Sperandio B; Division of Pediatric Nephrology, Department of Pediatrics, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.; Rolle U; Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt/M., Frankfurt am Main, Germany.; Schumacher J; Institute of Human Genetics, University Hospital of Marburg, Marburg, Germany.; Braunisch MC; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Berutti R; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Reutter H; Department of Neonatology and Pediatric Intensive Care, University Erlangen-Nürnberg, Erlangen, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, Munich, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Ekşi; Feillet, François; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A; Mckiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M; Santer, René; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S; Wiedemann, Arnaud; Wortmann, Saskia B; Diwan, Gaurav D; Russell, Robert B; Prokisch, Holger; Garbade, Sven F; Kölker, Stefan; Hoffmann, Georg F; Lenz, Dominic

Genet. Med. 22, 610-621 (2020)

Al Ojaimi M; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Banimortada BJ; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Othman A; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Almannai M; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; El-Hattab AW; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria.; Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.; Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany.; Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Nguyen TT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye.; Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Li Y; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Assia Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Saygılı S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Wimmers V; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Kim GJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany.; Chrysanthou M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Bakey Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Sofrin-Drucker E; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hölter SM; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.; Seisenberger C; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Haug S; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Schlosser P; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.; Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.; Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Wuttke M; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Hrabe de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.; Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Akgün Doğan Ö; Department of Pediatrics, Division of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, School of Medicine, Istanbul, Türkiye.; Özlük Y; Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye.; Taşdemir M; Department of Pediatric Nephrology, Istinye University Faculty of Medicine, Istanbul, Türkiye.; Ağbaş A; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Çalışkan S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Weber RG; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine IV, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Jeanpierre C; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France.; Saunier S; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France.; Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.; Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Basel-Salmon L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel; Felsenstein Medical Research Center, Petah Tikva, Israel.; Borovitz Y; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Wu K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Antony D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Matschkal J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Schaaf CW; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Rogg M; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Schell C; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Köttgen A; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.; Arnold SJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.; Ozaltin F; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Center for Genomics and Rare Diseases, Hacettepe University, Sihhiye, Ankara, Türkiye. Electronic address: fozaltin@hacettepe.edu.tr.; Schmidts M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany. Electronic address: miriam.schmidts@uniklinik-freiburg.de.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany. Electronic address: julia.hoefele@tum.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

Hüllen A; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.; Falkenstein K; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.; Weigel C; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.; Huidekoper H; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Naumann-Bartsch N; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.; Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Schaefers J; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Frenz S; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Kotlarz D; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Momen T; Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Khoshnevisan R; Department of Immunology, Medical Faculty, Isfahan University of Medical Sciences, Isfahan, Iran.; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Riedhammer KM; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Rennings A; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands.; Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Thiel C; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.; Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Burns W; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Bird LM; San Diego - Department of Pediatrics, University of California, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA.; Heron D; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.; Keren B; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.; Ramachandra D; Division of Genetics, Advocate Hope Children's Hospital, Oak Lawn, Illinois, USA.; Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Del Viso F; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Amudhavalli S; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Engleman K; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Wierzba J; Department of Pediatric and Internal Medicine Nursing, Medical University of Gdańsk, Poland.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Liptay S; Department of Pediatrics, Kinderklinik München Schwabing, School of Medicine, Technical University of Munich, Munich, Germany.; Zadeh N; Genetics Center, Orange, California, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, California, USA.; Porrmann J; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; Fischer A; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; Gößwein S; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; McLaughlin HM; Invitae Corporation, San Francisco, California, USA.; Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.; Langley KG; GeneDx, Gaithersburg, Maryland, USA.; Steet R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE