부산대학교 도서관

Mol, Nicky; Van Binsbergen, Yesica; Kasse, Mats; Leenards, Britte; Nankman, Joris; Abbink, David A.; Peternel, Luka; Prendergast, J. Micah

2025 International Conference on Advanced Robotics and Mechatronics (ICARM) Advanced Robotics and Mechatronics (ICARM), 2025 International Conference on. :900-905 Aug, 2025

Cahiers d'Études Africaines, 2000 Jan 01. 40(158), 398-401.

Canadian Journal of African Studies / Revue Canadienne des Études Africaines, 2013 Dec 01. 47(3), 579-581.

van Oirsouw ASE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Nedbalova P; Department of Molecular Biology and Genetics, Faculty of Science, University of South Bohemia in Ceske Budejovice, Ceske Budejovice, Czech Republic.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: miroslava.hancarova@lfmotol.cuni.cz.; Prchal J; Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic.; Prchalova D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD.; Dyer LM; GeneDx, LLC, Gaithersburg, MD.; Chen Y; GeneDx, LLC, Gaithersburg, MD.; Carere DA; GeneDx, LLC, Gaithersburg, MD.; Te Bogt EAM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Fisher H; Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX.; Scheuerle AE; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Riley S; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD.; Jain M; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD.; Mu W; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.; Bodurtha JN; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.; van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Stokman MF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Longo N; Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.; Balasubramanian M; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Costain G; The Hospital for Sick Children (SickKIds), SickKids Research Institute, and University of Toronto, Toronto, Ontario, Canada.; von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Jortveit M; Department of Paediatrics, Sorlandet Hospital, Kristiansand, Norway.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Sierra RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Angle B; Division of Genetics, Advocate Children's Hospital, Park Ridge, IL.; Bontempo K; Division of Genetics, Advocate Children's Hospital, Park Ridge, IL.; Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Rabin R; Clinical Genetic Services, Dept. Pediatrics, NYU Grossman School of Medicine, New York, NY.; Pappas J; Clinical Genetic Services, Dept. Pediatrics, NYU Grossman School of Medicine, New York, NY.; Staffenberg DA; Department of Plastic Surgery, NYU Langone Medical Center, New York, NY.; Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Filges I; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Alali A; West Virgina University, WV.; Vitalone K; Akron Childrens Hospital, Akron, OH.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Bi W; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Bradbrook S; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Perrier R; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, CA.; Gold JA; Department Pediatrics Division of Genetics Loma Linda School of Medicine, Loma Linda, CA; Department of Pediatrics Division of Genetics and Genomics University California Irvine, Irvine, CA.; Palomares Bralo M; CIBERER-ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain; ITHACA-European Reference Network, Spain.; Ángeles Gómez-Cano M; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Olney AH; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Nielsen S; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Ziegler A; Department of Genetics, University Hospital of Angers, Angers, France.; Bonneau D; Department of Genetics, University Hospital of Angers, Angers, France.; Prouteau C; Department of Genetics, University Hospital of Angers, Angers, France.; Bruel AL; Laboratoire de Génomique médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Caille-Benigni C; Department of Clinical Genetics, CH Troyes, Troyes, France.; Lambert L; Department of Clinical Genetics, CH Troyes, Troyes, France; INSERM U-1256, NGERE, Université de Lorraine, Nancy, France.; Yu AC; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Robin NH; Department of Genetics, Heersink UAB School of Medicine, Birmingham, AL.; Goodloe D; Department of Genetics, Heersink UAB School of Medicine, Birmingham, AL.; Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Porrmann J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Hennig YD; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.; Herman I; Boystown National Research Hospital, Boystown, NE 68010, NE.; Johnson IR; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Hérissant L; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kamermans A; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Fenckova M; Department of Molecular Biology and Genetics, Faculty of Science, University of South Bohemia in Ceske Budejovice, Ceske Budejovice, Czech Republic. Electronic address: fenckm00@prf.jcu.cz.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.h.vanjaarsveld@umcutrecht.nl.

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

Politique africaine 29(1):142-143

Gong, Maolei ; Li, Jiayi ; Qin, Zailong ; Machado Bressan Wilke, Matheus Vernet ; Liu, Yijun ; Li, Qian ; Liu, Haoran ; Liang, Chen ; Morales-Rosado, Joel A. ; Cohen, Ana S.A. ; Hughes, Susan S. ; Sullivan, Bonnie R. ; Waddell, Valerie ; van den Boogaard, Marie-José H. ; van Jaarsveld, Richard H. ; van Binsbergen, Ellen ; van Gassen, Koen L. ; Wang, Tianyun ; Hiatt, Susan M. ; Amaral, Michelle D. ; Kelley, Whitley V. ; Zhao, Jianbo ; Feng, Weixing ; Ren, Changhong ; Yu, Yazhen ; Boczek, Nicole J. ; Ferber, Matthew J. ; Lahner, Carrie ; Elliott, Sherr ; Ruan, Yiyan ; Mignot, Cyril ; Keren, Boris ; Xie, Hua ; Wang, Xiaoyan ; Popp, Bernt ; Zweier, Christiane ; Piard, Juliette ; Coubes, Christine ; Mau-Them, Frederic Tran ; Safraou, Hana ; Innes, A. Micheil ; Gauthier, Julie ; Michaud, Jacques L. ; Koboldt, Daniel C. ; Sylvie, Odent ; Willems, Marjolaine ; Tan, Wen-Hann ; Cogne, Benjamin ; Rieubland, Claudine ; Braun, Dominique ; McLean, Scott Douglas ; Platzer, Konrad ; Zacher, Pia ; Oppermann, Henry ; Evenepoel, Lucie ; Blanc, Pierre ; El Khattabi, Laïla ; Haque, Neshatul ; Dsouza, Nikita R. ; Zimmermann, Michael T. ; Urrutia, Raul ; Klee, Eric W. ; Shen, Yiping ; Du, Hongzhen ; Rappaport, Leonard ; Liu, Chang-Mei ; Chen, Xiaoli

In The American Journal of Human Genetics 7 November 2024 111(11):2392-2410

Ginjaar, Ieke B.; Kriek, Marjolein; Hoffer, Mariette J. V.; Oegema, Renske; van Binsbergen, Ellen; Diderich, Karin E. M.; van Zutven, Laura J. C. M.; Duijkers, Floor A. M.; Knegt, Alida C.; Erasmus, Corrie E.; de Leeuw, Nicole; Verheij, Joke B. G. M.; Dijkhuizen, Trijnie; van Duyvenvoorde, Hermine A.

NEUROMUSCULAR DISORDERS; SEP 2025, 54 p106219 8p.

M. Bruijn, T.V.; Gérard, A.O.; Labat, M.; Binsbergen, W. van; Koumaki, D.; Valérian, R.; Dezoteux, F.; Giacchero, D.; Heelan, K.; Ardern-Jones, M.; Hirner, J.P.; Mayor, A.; Labots, M.; der Laken, J. van; Sibaud, V.; Elshot, Y.S.

EJC Skin Cancer. 3

Kato K; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Nishio Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, 464-0805, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan.; McMillan KJ; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.; Al-Maraghi A; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.; Kroes HY; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Jones E; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Shaw S; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Yoshida A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Otsuji S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Department of Pediatric Internal Medicine and Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, 480-0392, Japan.; Murofushi Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Aamer W; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.; Bhat AA; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar.; AlRayahi J; Department of Pediatric Radiology, Sidra Medicine, Doha, 26999, Qatar.; Al-Shabeeb Akil AS; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar.; Aliyev E; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.; Janssen EJ; Department of Pediatrics, University Medical Centre Maastricht, MosaKids Children's Hospital, Maastricht, 6229 HX, Netherlands.; Mehrin KM; Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8602, Japan.; Oishi H; Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8602, Japan.; Kobayashi R; Department of Veterinary Medicine, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, 069-0836, Japan.; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan.; Horii T; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan.; Hatada I; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan.; Viral Vector Core, Gunma University Initiative for Advanced Research (GIAR), Gunma, 371-8512, Japan.; Saito A; Department of Applied Molecular Medicine, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 951-8510, Japan.; Division of Clinical Nephrology and Rheumatology, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata City, Niigata, 951-8510, Japan.; Hattori M; Department of Biomedical Science, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, 467-8603, Japan.; Kawano Y; Department of Pediatrics, Toyota Memorial Hospital, Toyota, 471-8513, Japan.; Lewis PA; Bristol Proteomic Facility, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK.; Heesom KJ; Bristol Proteomic Facility, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK.; Takarada T; Department of Regenerative Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, 700-8558, Japan.; Sawamoto K; Department of Developmental and Regenerative Neurobiology, Institute of Brain Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8602, Japan.; Matsushita M; Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, 464-0805, Japan.; Butkovic R; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Danson C; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Wilkinson KA; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol BS8 1TD, UK.; Fakhro KA; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.; Department of Genomic Medicine, Weill Cornell Medical College, Doha, 24144, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Cullen PJ; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

van Binsbergen, Wouter Henk-Jan; Zwezerijnen, Gerben Johannes Cornelis; Windhorst, Albert D.; Schober, Patrick; Voskuyl, Alexandre E.; van der Laken, Conny J.; Yaqub, Maqsood

JOURNAL OF NUCLEAR MEDICINE; SEP 1 2025, 66 9, p1458-p1463, 6p.

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske

In The American Journal of Human Genetics 1 June 2023 110(6):963-978

Anthropos, 2012 Jan 01. 107(2), 674-675.

Ghosh, Nilasha ; Couette, Nina ; van Binsbergen, Wouter H. ; Weinmann, Sophia C. ; Jivanelli, Bridget ; Shea, Beverley ; Bass, Anne R. ; Benesova, Karolina ; Bingham, Clifton O. ; Calabrese, Cassandra ; Cappelli, Laura C. ; Chan, Karmela Kim ; Choy, Ernest ; Daoussis, Dimitrios ; Goodman, Susan ; Hudson, Marie ; Jamal, Shahin ; Leipe, Jan ; Lopez-Olivo, Maria A. ; Suarez-Almazor, Maria ; van der Laken, Conny J. ; Meara, Alexa Simon ; Liew, David ; Kostine, Marie

In Seminars in Arthritis and Rheumatism February 2023 58

van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire ; Hadders, Michael A. ; Agolini, Emanuele ; Ahimaz, Priyanka ; Anyane-Yeboa, Kwame ; Bellanger, Severine Audebert ; van Binsbergen, Ellen ; van den Boogaard, Marie-Jose ; Brischoux-Boucher, Elise ; Caylor, Raymond C. ; Ciolfi, Andrea ; van Essen, Ton A.J. ; Fontana, Paolo ; Hopman, Saskia ; Iascone, Maria ; Javier, Margaret M. ; Kamsteeg, Erik-Jan ; Kerkhof, Jennifer ; Kido, Jun ; Kim, Hyung-Goo ; Kleefstra, Tjitske ; Lonardo, Fortunato ; Lai, Abbe ; Lev, Dorit ; Levy, Michael A. ; Lewis, M.E. Suzanne ; Lichty, Angie ; Mannens, Marcel M.A.M. ; Matsumoto, Naomichi ; Maya, Idit ; McConkey, Haley ; Megarbane, Andre ; Michaud, Vincent ; Miele, Evelina ; Niceta, Marcello ; Novelli, Antonio ; Onesimo, Roberta ; Pfundt, Rolph ; Popp, Bernt ; Prijoles, Eloise ; Relator, Raissa ; Redon, Sylvia ; Rots, Dmitrijs ; Rouault, Karen ; Saida, Ken ; Schieving, Jolanda ; Tartaglia, Marco ; Tenconi, Romano ; Uguen, Kevin ; Verbeek, Nienke ; Walsh, Christopher A. ; Yosovich, Keren ; Yuskaitis, Christopher J. ; Zampino, Giuseppe ; Sadikovic, Bekim ; Alders, Mariëlle ; Oegema, Renske

In Genetics in Medicine January 2023 25(1):49-62

Anthropos, 2007 Jan 01. 102(1), 300-301.

J.H.R. van Duin; Kees B.H. van Son; Lori A. Tavasszy; Arjan J. van Binsbergen; Peter A. Kee; Edgar M. Huitema

Transportation Research Record: Journal of the Transportation Research Board. 2677:1593-1603

Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; Alexander, Suzy ; Kasherman, Maria ; Vega, Michelle Sanchez ; Ivancevic, Atma ; Gardner, Alison ; Domingo, Deepti ; Corbett, Mark ; Parnell, Euan ; Yoon, Sehyoun ; Oh, Tracey ; Lines, Matthew ; Lefroy, Henrietta ; Kini, Usha ; Van Allen, Margot ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Bézieau, Stéphane ; Pasquier, Laurent ; Raynaud, Martine ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Keren, Boris ; Désir, Julie ; Van Maldergem, Lionel ; Marangoni, Martina ; Dikow, Nicola ; Koolen, David A. ; VanHasselt, Peter M. ; Weiss, Marjan ; Zwijnenburg, Petra ; Sa, Joaquim ; Reis, Claudia Falcao ; López-Otín, Carlos ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Rauch, Anita ; Steindl, Katharina ; Joset, Pascal ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Zackai, Elaine ; Mcdougall, Carey ; Narayanan, Vinodh ; Ramsey, Keri ; Mercimek-Andrews, Saadet ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Ewing, Sarah A. ; Barnett, Sarah S. ; Klee, Eric W. ; Perry, M. Scott ; Koenig, Mary Kay ; Keegan, Catherine E. ; Schuette, Jane L. ; Asher, Stephanie ; Perilla-Young, Yezmin ; Smith, Laurie D. ; Bhoj, Elizabeth ; Kaplan, Paige ; Li, Dong ; Oegema, Renske ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Smeland, Marie Falkenberg ; Cutcutache, Ioana ; Page, Matthew ; Armstrong, Martin ; Lin, Angela E. ; Steeves, Marcie A. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Reijnders, Margot R.F. ; Demirdas, Serwet ; Koboldt, Daniel C. ; Bartholomew, Dennis ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Shieh, Christine ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Tezcan, Kamer ; Schaefer, G.B. ; Danylchuk, Noelle R. ; Asamoah, Alexander ; Jackson, Kelly E. ; Yachelevich, Naomi ; Au, Margaret ; Pérez-Jurado, Luis A. ; Kleefstra, Tjitske ; Penzes, Peter ; Wood, Stephen A. ; Burne, Thomas ; Pierson, Tyler Mark ; Piper, Michael ; Gécz, Jozef ; Jolly, Lachlan A.

In Biological Psychiatry 15 January 2020 87(2):100-112

E. van der Heijden; J. M. G. A. Schols; J. J. van Binsbergen; A. M. Evers; H. M. Kruizenga; T. A. Remijnse; A. M. W. J. Schols; C. J. J. Mulder

TSG. 87:341-345

Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.; Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.; Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.; Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.; de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France.; Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.; Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India.; Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.; Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland.; Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.; Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Goodman, Lindsey D. ; Cope, Heidi ; Nil, Zelha ; Ravenscroft, Thomas A. ; Charng, Wu-Lin ; Lu, Shenzhao ; Tien, An-Chi ; Pfundt, Rolph ; Koolen, David A. ; Haaxma, Charlotte A. ; Veenstra-Knol, Hermine E. ; Wassink-Ruiter, Jolien S. Klein ; Wevers, Marijke R. ; Jones, Melissa ; Walsh, Laurence E. ; Klee, Victoria H. ; Theunis, Miel ; Legius, Eric ; Steel, Dora ; Barwick, Katy E.S. ; Kurian, Manju A. ; Mohammad, Shekeeb S. ; Dale, Russell C. ; Terhal, Paulien A. ; van Binsbergen, Ellen ; Kirmse, Brian ; Robinette, Bethany ; Cogné, Benjamin ; Isidor, Bertrand ; Grebe, Theresa A. ; Kulch, Peggy ; Hainline, Bryan E. ; Sapp, Katherine ; Morava, Eva ; Klee, Eric W. ; Macke, Erica L. ; Trapane, Pamela ; Spencer, Christopher ; Si, Yue ; Begtrup, Amber ; Moulton, Matthew J. ; Dutta, Debdeep ; Kanca, Oguz ; Wangler, Michael F. ; Yamamoto, Shinya ; Bellen, Hugo J. ; Tan, Queenie K.-G.

In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691