부산대학교 도서관

Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.; Stanton JE; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Bosc-Rosati A; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Bray L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Oloudé M; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Scott-Boyer MP; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Most V; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Papendorf JJ; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; de Konink C; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Studencka-Turski M; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Hajdukowicz AM; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Thiel FG; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Wolfgramm S; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Florenceau L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Marsac S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Verrès Y; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Poirier L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA.; Forster C; Loyola University Chicago, Chicago, IL, USA.; Striesow J; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Golnik R; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany.; Ortiz D; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Jenkins L; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.; Houdayer C; Service de Génétique médicale, CHU Angers, Angers, France.; Bonneau D; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.; Torti E; GeneDx, LLC, Gaithersburg, MD, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD, USA.; Volker-Touw CMLN; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; de Pagter MS; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Steindl K; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; McDonald K; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.; Boothe E; University of Mississippi Medical Center, Jackson, MS, USA.; Dauber A; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Baker J; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Fabie NAV; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Bernier RA; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Swanson LC; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Costin C; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA.; Abdulrazak A; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA.; Jobling RK; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Niyazov D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Chun-Hui Tsai A; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA.; Kovak K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA.; Beck DB; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Ganetzky RD; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Muraresku CC; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Timberlake AT; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.; Saif HA; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Nestler B; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; King K; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Prendergast D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Geneviève D; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sorlin A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Toker O; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Sabir A; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Bryson LJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Cleary E; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK.; Weber S; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ververi A; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Pavlidou E; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece.; Lambropoulos A; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Garganis K; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece.; Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France.; Langas SJ; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; McRae AM; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Lessard MK; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; D'Agostino MD; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; De Bie I; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; Wegler M; 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.; Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Wiame E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Schroeder MC; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Gooch C; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA.; Smith RA; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Busch LM; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Wende K; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Meiler J; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA.; Ripoll C; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bigou S; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Roux-Dalvai F; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Marcoux J; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Bousquet MP; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Droit A; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de médecine moléculaire, Faculté de médecine, Université Laval, 2325 rue de l'Université, Québec, QC, Canada.; Poschmann J; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. stephane.bezieau@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. stephane.bezieau@chu-nantes.fr.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. frederic.ebstein@univ-nantes.fr.; Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany. elke.krueger@uni-greifswald.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Brünger T; Krey I; Kim S; Klöckner C; Myers SJ; Johannesen KM; Stefanski A; Taylor G; Perez-Palma E; Macnee M; Schorge S; Dahl RS; Yuan H; Perszyk RE; Kim S; Bajaj S; Helbig I; Pan JQ; Farrant M; Wollmuth L; Wyllie DJA; Kurganov E; Baez D; Zuberi S; Boßelmann CM; Lerche H; Mantegazza M; Cestèle S; May P; Ivaniuk A; Meskis MA; Hood V; Schust L; Goodspeed K; Kang JQ; Freed A; Gati C; Montanucci L; Wuster A; Trinidad M; Froelich S; Deng AT; Aledo-Serrano Á; Borovikov A; Sharkov A; Bouman A; Hajianpour MJ; Pal DK; Danvoye L; Lederer D; Balci TR; Hagebeuk EEO; Heidlebaugh A; Oetjens K; Hoffman TL; Striano P; Williams SD; van Engelen K; Howell KB; Khoury J; Benke TA; Strehlow V; Platzer K; Ramsey A; Manaster L; Malepati S; Fox P; Noebels J; Chung W; Poduri A; Stripe LL; Ruggiero SM; Cohen S; Smith L; Boesch S; Wilmarth O; Prentice AJ; Cha E; Budnik N; Hommersom MP; Kramer A; Vanoye CG; Zhang GQ; Nothnagel M; Palotie A; Daly MJ; George AL; Zarate YA; Brunklaus A; Traynelis SF; Møller RS; Lemke JR; Lal D

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

Jones, Amy G; Aquilino, Matilde; Tinker, Rory J; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L; DeWard, Stephanie J; Grange, Dorothy K; Hajianpour, M J; Halliday, Benjamin J; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I; Polster, Tilman; Spano, Alice; Gómez-Lozano, Inés; Kumar, Abhishek; Poke, Gemma; Phillips, John A; Underhill, Hunter R; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P

The American Journal of Human Genetics. 111:729-741

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R

Brain: A Journal of Neurology. Dec2023, Vol. 146 Issue 12, p5198-5208. 11p.

Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; de la Cruz, Xavier; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M J; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle; Song, Hongjun; Ming, Guo-li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian A.; Akizu, Naiara

Nature Communications. 14(1)

Pal A; Department of Medicine.; Aydin-Ghormoz E; Department of Medicine, Division of Nephrology & Hypertension Care.; Mehta S; Department of Medicine, Division of Nephrology & Hypertension Care.; Hajianpour MJ; Division of Medical Genetics and Genomics, Albany Med Health System, Albany Medical College, Albany, NY, USA.; Gaine E; University Hospital Galway, Galway, Ireland, and.; Zia MA; Department of Medicine.; Tannous E; Department of Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY, USA.; Lightle A; Department of Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY, USA.; Hongalgi K; Department of Medicine, Division of Nephrology & Hypertension Care.

Publisher: Dustri-Verlag Country of Publication: Germany NLM ID: 101638685 Publication Model: eCollection Cited Medium: Internet ISSN: 2196-5293 (Electronic) Linking ISSN: 21965293 NLM ISO Abbreviation: Clin Nephrol Case Stud Subsets: PubMed not MEDLINE

Küry S; Stanton JE; van Woerden G; Hsieh TC; Rosenfelt C; Scott-Boyer MP; Most V; Wang T; Papendorf JJ; de Konink C; Deb W; Vignard V; Studencka-Turski M; Besnard T; Hajdukowicz AM; Thiel F; Möller S; Florenceau L; Cuinat S; Marsac S; Wentzensen I; Tuttle A; Forster C; Striesow J; Golnik R; Ortiz D; Jenkins L; Rosenfeld JA; Ziegler A; Houdayer C; Bonneau D; Torti E; Begtrup A; Monaghan KG; Mullegama SV; Volker-Touw CMLN; van Gassen KLI; Oegema R; de Pagter M; Steindl K; Rauch A; Ivanovski I; McDonald K; Boothe E; Dauber A; Baker J; Fabie NAV; Bernier RA; Turner TN; Srivastava S; Dies KA; Swanson L; Costin C; Jobling RK; Pappas J; Rabin R; Niyazov D; Tsai AC; Kovak K; Beck DB; Malicdan M; Adams DR; Wolfe L; Ganetzky RD; Muraresku C; Babikyan D; Sedláček Z; Hančárová M; Timberlake AT; Al Saif H; Nestler B; King K; Hajianpour MJ; Costain G; Prendergast D; Li C; Geneviève D; Vitobello A; Sorlin A; Philippe C; Harel T; Toker O; Sabir A; Lim D; Hamilton M; Bryson L; Cleary E; Weber S; Hoffman TL; Cueto-González AM; Tizzano EF; Gómez-Andrés D; Codina-Solà M; Ververi A; Pavlidou E; Lambropoulos A; Garganis K; Rio M; Levy J; Jurgensmeyer S; McRae AM; Lessard MK; D'Agostino MD; De Bie I; Wegler M; Jamra RA; Kamphausen SB; Bothe V; Busch LM; Völker U; Hammer E; Wende K; Cogné B; Isidor B; Meiler J; Bosc-Rosati A; Marcoux J; Bousquet MP; Poschmann J; Laumonnier F; Hildebrand PW; Eichler EE; McWalter K; Krawitz PM; Droit A; Elgersma Y; Grabrucker AM; Bolduc FV; Bézieau S; Ebstein F; Krüger E

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

Prenatal Diagnosis; Sep1995, Vol. 15 Issue 9, p877-879, 3p

Begemann A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Begtrup A; GeneDx, Gaithersburg, MD, USA.; Vitobello A; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du développement et syndromes malformatifs», centre de génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Bierhals T; Institute of Human Genetics, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.; Brown KE; University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA.; Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Carneiro M; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Day R; Cancer Research Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Denommé-Pichon AS; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Dyment DA; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Fisher R; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan, Arbor, MI, USA.; Goh ES; Laboratory Medicine and Genetics and Institute for Better Health, Trillium Health Partners, Mississauga, ON, Canada.; Hajianpour MJ; Department of Pediatrics, Medical Genetics, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA.; Haertel LRM; Hospital Santa Catarina de Blumenau, Blumenau, Brazil.; Hauer N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Hempel M; Institute of Human Genetics, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.; Johannsen J; Department of Pediatrics, University medical center Hamburg-Eppendorf, Hamburg, Germany.; Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Le Guyader G; CHU de Poitiers, Poitiers, France.; Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France.; Mau-Them FT; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; McDermott JH; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Meyer P; Department of Pediatric Neurology, CHU Montpellier, PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.; Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Reimand T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.; 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.; Russo M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Saenz M; University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA.; Schiff M; Reference center for Inborn Errors of Metabolism, Necker University Hospital, APHP, Université de Paris, Faculté de médecine Paris-Descartes, Paris, France.; Institut Imagine, Inserm UMRS_1163, Paris, France.; Schuler E; Department of Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Syrbe S; Department of Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Van der Ven AT; Institute of Human Genetics, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.; Verloes A; UMR1141 INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Willems M; Département Génétique Médicale, CHRU de Montpellier, Montpellier, France.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

Stone WL; Department of Pediatrics, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA, stone@etsu.edu.; Klopfenstein KJ; Department of Pediatrics, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA.; Hajianpour MJ; Department of Pediatrics, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA.; Popescu MI; Department of Pediatrics, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA.; Cook CM; Department of Pediatrics, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA.; Krishnan K; Department of Internal Medicine, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, 37614, USA.

Publisher: IMR Press Country of Publication: Singapore NLM ID: 101612996 Publication Model: Electronic Cited Medium: Internet ISSN: 2768-6698 (Electronic) Linking ISSN: 27686698 NLM ISO Abbreviation: Front Biosci (Landmark Ed) Subsets: MEDLINE

Hajianpour MJ; Bombei H; Lieberman SM; Revell R; Krishna R; Gregorsok R; Kao S; Milunsky JM

Publisher: Elsevier Country of Publication: England NLM ID: 7503060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-4723 (Electronic) Linking ISSN: 00028177 NLM ISO Abbreviation: J Am Dent Assoc Subsets: MEDLINE

Hsu WT; Department of Pediatrics, Rush Medical College, Chicago, Illinois, USA. whsu@rush.edu; Shchepin DA; Mao R; Berry-Kravis E; Garber AP; Fischel-Ghodsian N; Falk RE; Carlson DE; Roeder ER; Leeth EA; Hajianpour MJ; Wang JC; Rosenblum-Vos LS; Bhatt SD; Karson EM; Hux CH; Trunca C; Bialer MG; Linn SK; Schreck RR

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

Wang JC; Alfigen/The Genetics Institute, Pasadena, California 91105, USA.; Nemana L; Kou SY; Habibian R; Hajianpour MJ

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

Hajianpour MJ; Alfigen/The Genetics Institute, Pasadena, CA 91105, USA.; Hajianpour AK; Habibian R; Wohlmuth C

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE