부산대학교 도서관

Ravenscroft, T.A.; Bajikar, S.S.; Rosenfeld, J.A.; Kanca, O.; Wangler, M.F.; Yamamoto, S.; Bellen, H.J.; Phillips, J.B.; Peirce, J.; Wegner, J.; Luna, A.A.; Fox, E.J.; Yan, Y.-L.; Postlethwait, J.H.; Westerfield, M.; Fieg, E.; Krier, J.; Zirin, J.; Benke, P.J.; Cameron, E.S.; Strehlow, V.; Platzer, K.; Jamra, R.A.; Klöckner, C.; Osmond, M.; Licata, T.; Rojas, S.; Dyment, D.; Chong, J.S.C.; Lincoln, S.; Stoler, J.M.; Acosta, M.T.; Adams, D.R.; Baker, E.; Bonnenmann, C.; Burke, E.A.; Colley, H.A.; D’Souza, P.; Davis, J.; Dayal, J.G.; Doss, A.L.; Draper, D.D.; Eckstein, D.J.; Ferreira, C.; Findley, L.C.; Gahl, W.A.; Gochuico, B.; Godfrey, R.A.; Goldrich, M.P.; Groden, C.A.; Huryn, L.; Krasnewich, D.M.; LaMoure, G.L.; Latham, L.; MacDowall, J.; Macnamara, E.F.; Maduro, V.V.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Markello, T.C.; Mosbrook-Davis, D.; Mulvihill, J.J.; Nath, A.; Novacic, D.; Power, B.; Pusey, B.N.; Rossignol, F.; Scott, C.R.; Solomon, B.; Thurm, A.; Tifft, C.J.; Toro, C.; Urv, T.K.; Wahl, C.E.; Wolfe, L.A.; Yang, J.; Yousef, M.; Zein, W.; Adam, M.; Amendola, L.; Bamshad, M.; Beck, A.; Bennet, J.; Berg-Rood, B.; Blue, E.; Boyd, B.; Byers, P.; Chanprasert, S.; Cunningham, M.; Dipple, K.; Doherty, D.; Earl, D.; Glass, I.; Golden-Grant, K.; Hahn, S.; Hing, A.; Hisama, F.M.; Horike-Pyne, M.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Lam, C.; Maravilla, K.; Mefford, H.; Merritt, J.L.; Mirzaa, G.; Nickerson, D.; Raskind, W.; Rosenwasser, N.; Sun, A.; Sybert, V.; Wallace, S.; Wener, M.; Agrawal, P.B.; Beggs, A.H.; Berry, G.T.; Briere, L.C.; Cobban, L.A.; Coggins, M.; Cooper, C.M.; Fieg, E.L.; High, F.; Holm, I.A.; Korrick, S.; Krier, J.B.; Lincoln, S.A.; Loscalzo, J.; Maas, R.L.; MacRae, C.A.; Pallais, J.C.; Rao, D.A.; Rodan, L.H.; Silverman, E.K.; Stoler, J.M.; Sweetser, D.A.; Walsh, C.A.; Walker, M.; Alejandro, M.E.; Azamian, M.S.; Bacino, C.A.; Balasubramanya, A.; Burrage, L.C.; Chao, H.-T.; Clark, G.D.; Craigen, W.J.; Dai, H.; Dhar, S.U.; Emrick, L.T.; Goldman, A.M.; Hanchard, N.A.; Jamal, F.; Karaviti, L.; Lalani, S.R.; Lee, B.H.; Lewis, R.A.; Marom, R.; Moretti, P.M.; Murdock, D.R.; Nicholas, S.K.; Orengo, J.P.; Posey, J.E.; Potocki, L.; Rosenfeld, J.A.; Samson, S.L.; Scott, D.A.; Tran, A.A.; Vogel, T.P.; Alvey, J.; Andrews, A.; Bale, J.; Bayrak-Toydemir, P.; Bohnsack, J.; Botto, L.; Carey, J.; Longo, N.; Mao, R.; Marth, G.; Pace, L.; Quinlan, A.; Velinder, M.; Viskochil, D.; Ashley, E.A.; Bejerano, G.; Bernstein, J.A.; Bonner, D.; Bademci, G.; Barbouth, D.; Bivona, S.; Carrasquillo, O.; Chang, T.C.P.; Forghani, I.; Grajewski, A.; Isasi, R.; Lam, B.; Levitt, R.; Liu, X.Z.; McCauley, J.; Sacco, R.; Saporta, M.; Schaechter, J.; Tekin, M.; Telischi, F.; Thorson, W.; Zuchner, S.; Baldridge, D.; Behrens, E.; Deardorff, M.; Falk, M.; Hassey, K.; Sullivan, K.; Vanderver, A.; Bican, A.; Brokamp, E.; Cogan, J.D.; Duncan, L.; Hamid, R.; Kennedy, J.; Koziura, M.; Newman, J.H.; Phillips, J.A.; Rives, L.; Robertson, A.K.; Solem, E.; Brown, G.; Butte, M.J.; Dell’Angelica, E.C.; Dorrani, N.; Douine, E.D.; Fogel, B.L.; Gutierrez, I.; Huang, A.; Krakow, D.; Lee, H.; Loo, S.K.; Mak, B.C.; Martin, M.G.; Martínez-Agosto, J.A.; McGee, E.; Nelson, S.F.; Nieves-Rodriguez, S.; Palmer, C.G.; Papp, J.C.; Parker, N.H.; Renteria, G.; Signer, R.; Sinsheimer, J.S.; Wan, J.; Wang, L.-K.; Wenger, T.; Perry, K.W.; Woods, J.D.; Byrd, W.E.; Crouse, A.B.; Might, M.; Nakano-Okuno, M.; Whitlock, J.; Coakley, T.R.; Fernandez, L.; Fisher, P.G.; Fresard, L.; Hom, J.; Huang, Y.; Kohler, J.N.; Kravets, E.; Majcherska, M.M.; Martin, B.A.; Marwaha, S.; McCormack, C.E.; Raja, A.N.; Reuter, C.M.; Ruzhnikov, M.; Sampson, J.B.; Smith, K.S.; Sutton, S.; Tabor, H.K.; Tucker, B.M.; Wheeler, M.T.; Zastrow, D.B.; Zhao, C.; Cole, F.S.; Hayes, N.; Kiley, D.; Sisco, K.; Wambach, J.; Wegner, D.; Cope, H.; McConkie-Rosell, A.; Schoch, K.; Shashi, V.; Smith, E.C.; Spillmann, R.C.; Sullivan, J.A.; Tan, Q.K.-G.; Walley, N.M.; Dasari, S.; Lanpher, B.C.; Lanza, I.R.; Morava, E.; Oglesbee, D.; Eng, C.M.; Liu, P.; Ward, P.A.; Esteves, C.; Kohane, I.S.; LeBlanc, K.; McCray, A.T.; Nagy, A.; Tan, A.L.M.; Goldstein, D.B.; Pak, S.; Schedl, T.; Shin, J.; Solnica-Krezel, L.; Wangler, M.F.; Yamamoto, S.; Westerfield, M.

In: Genetics in Medicine. (Genetics in Medicine, October 2021, 23(10):1889-1900)

Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.; Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.; Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France.; Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland.; Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA.; Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA.; Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France.; Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA.; Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA.; Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA.; van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.; Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.; Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia.; van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.; Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.; Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.; Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.; Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany.; Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

정보광 / Bo Kwang Chung; 반수홍 / Su Hong Ban; 김동효 / Dong Hyo Kim; 오충현 / Choong Hyeon Oh

한국환경생태학회 학술발표논문집. Apr 18, 2014 2014(1):11

Helbig KL; Lauerer RJ; Bahr JC; Souza IA; Myers CT; Uysal B; Schwarz N; Gandini MA; Huang S; Keren B; Mignot C; Afenjar A; Billette de Villemeur T; Héron D; Nava C; Valence S; Buratti J; Fagerberg CR; Soerensen KP; Kibaek M; Kamsteeg EJ; Koolen DA; Gunning B; Schelhaas HJ; Kruer MC; Fox J; Bakhtiari S; Jarrar R; Padilla-Lopez S; Lindstrom K; Jin SC; Zeng X; Bilguvar K; Papavasileiou A; Xing Q; Zhu C; Boysen K; Vairo F; Lanpher BC; Klee EW; Tillema JM; Payne ET; Cousin MA; Kruisselbrink TM; Wick MJ; Baker J; Haan E; Smith N; Sadeghpour A; Davis EE; Katsanis N; Corbett MA; MacLennan AH; Gecz J; Biskup S; Goldmann E; Rodan LH; Kichula E; Segal E; Jackson KE; Asamoah A; Dimmock D; McCarrier J; Botto LD; Filloux F; Tvrdik T; Cascino GD; Klingerman S; Neumann C; Wang R; Jacobsen JC; Nolan MA; Snell RG; Lehnert K; Sadleir LG; Anderlid BM; Kvarnung M; Guerrini R; Friez MJ; Lyons MJ; Leonhard J; Kringlen G; Casas K; El Achkar CM; Smith LA; Rotenberg A; Poduri A; Sanchis-Juan A; Carss KJ; Rankin J; Zeman A; Raymond FL; Blyth M; Kerr B; Ruiz K; Urquhart J; Hughes I; Banka S; Hedrich UBS; Scheffer IE; Helbig I; Zamponi GW; Lerche H; Mefford HC

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE

JAMA: Journal of the American Medical Association; October 1911, Vol. 57 Issue: 18 p1442-1443, 2p

Giovannitti A; Department of Chemistry, Imperial College London, London, SW7 2AZ, UK.; Department of Physics, Imperial College London, London, SW7 2AZ, UK.; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Rashid RB; Simpson Querrey Institute, Northwestern University, Chicago, IL, 60611, USA.; Department of Biomedical Engineering, Northwestern University, 2145 Sheridan Road, Evanston, IL, 60208, USA.; Thiburce Q; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Paulsen BD; Simpson Querrey Institute, Northwestern University, Chicago, IL, 60611, USA.; Department of Biomedical Engineering, Northwestern University, 2145 Sheridan Road, Evanston, IL, 60208, USA.; Cendra C; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Thorley K; Department of Chemistry, Imperial College London, London, SW7 2AZ, UK.; Moia D; Department of Physics, Imperial College London, London, SW7 2AZ, UK.; Mefford JT; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Hanifi D; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Weiyuan D; Physical Sciences and Engineering Division, KAUST Solar Center (KSC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Moser M; Department of Chemistry, Imperial College London, London, SW7 2AZ, UK.; Salleo A; Department of Materials Science and Engineering, Stanford University, Stanford, CA, 94305, USA.; Nelson J; Department of Physics, Imperial College London, London, SW7 2AZ, UK.; McCulloch I; Department of Chemistry, Imperial College London, London, SW7 2AZ, UK.; Physical Sciences and Engineering Division, KAUST Solar Center (KSC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Rivnay J; Simpson Querrey Institute, Northwestern University, Chicago, IL, 60611, USA.; Department of Biomedical Engineering, Northwestern University, 2145 Sheridan Road, Evanston, IL, 60208, USA.

Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 9885358 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-4095 (Electronic) Linking ISSN: 09359648 NLM ISO Abbreviation: Adv Mater Subsets: MEDLINE

Bar C; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Barcia G; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Jennesson M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Le Guyader G; Department of genetics, University hospital Poitiers, Poitiers Cedex, France.; EA3808-NEUVACOD Unité Neurovasculaire et Troubles Cognitifs, Pôle Biologie Santé, Université de Poitiers, Poitiers, France.; Schneider A; Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Mignot C; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.; Lesca G; Department of genetics, Hospices Civils de Lyon, Lyon, France.; Neurosciences centre of Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron Cedex, France.; Breuillard D; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.; Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.; Doummar D; Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.; Billette de Villemeur T; Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.; Afenjar A; Département de Génétique et Embryologie Médicale, Pathologies Congénitales du Cervelet-LeucoDystrophies, Centre de Référence déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, GRC n°19, Sorbonne Université, Paris, France.; Marey I; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.; Gerard M; Department of genetics, CHU Côte de Nacre, Caen, France.; Isnard H; Neurology clinic, Lyon, France.; Poisson A; Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team, Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University, Villeurbanne, France.; Dupont S; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.; Epileptology and Rehabilitation department, GH Pitie-Salpêtrière-Charles Foix, AP-HP, Paris, France.; Berquin P; Department of pediatric neurology Amiens-Picardie university hospital, Université de Picardie Jules Verne, Amiens, France.; Meyer P; Department of pediatric neurology, Montpellier university hospital, Montpellier, France.; PhyMedExp, U1046 INSERM, UMR9214 CNRS, Montpellier, France.; Genevieve D; Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développement, CHU Montpellier, Montpellier, France.; De Saint Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Strasbourg, France.; El Chehadeh S; Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Chelly J; Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Guët A; Department of Pediatric, Louis-Mourier Hospital, Colombes, France.; Scalais E; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg City, Luxembourg.; Dorison N; Department of pediatric Neurosurgery, Rothschild Foundation Hospital, Paris, France.; Myers CT; Department of Pediatrics, University of Washington, Seattle, Washington.; Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.; Howell KB; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.; Freeman JL; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Nica A; Department of Neurology, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Terrone G; Department of Translational Medical Sciences, Section of Pediatrics-Child Neurology Unit, Federico II University, Naples, Italy.; Sekhara T; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.; Lebre AS; Department of genetics, Maison Blanche hospital, University hospital, Reims, Reims, France.; Odent S; Reference Centre for Rare Developmental Abnormalities, CLAD-Ouest, CHU Rennes, Rennes, France.; Institute of genetics and development, CNRS UMR 6290, Rennes university, Rennes, France.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Munnich A; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.; Scheffer IE; Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; The Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.; Kabashi E; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Nabbout R; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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In: Clinical Genetics. (Clinical Genetics, August 2021, 100(2):227-233)

Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lauerer RJ; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Bahr JC; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Souza IA; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Myers CT; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.; Uysal B; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Gandini MA; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Huang S; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Keren B; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Mignot C; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Afenjar A; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Département de Génétique et Embryologie Médicale, AP-HP, Hôpital d'Enfants Armand Trousseau, Centre de Référence des Déficits Intellectuels de Causes Rares, 75012 Paris, France.; Billette de Villemeur T; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Service de Neuropédiatrie, AP-HP, Hôpital d'Enfants Armand Trousseau; Centre de Référence des Déficits Intellectuels de Causes Rares; Inserm U 1141, 75012 Paris, France.; Héron D; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Nava C; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Valence S; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Buratti J; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; H.C. Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.; Soerensen KP; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Kibaek M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.; Gunning B; Stichting Epilepsie Instellingen Nederland, 8025 Zwolle, the Netherlands.; Schelhaas HJ; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht UMC, 5591 Heeze, the Netherlands.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Fox J; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Jarrar R; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Jin SC; Yale School of Medicine, New Haven, CT 06510, USA.; Zeng X; Yale School of Medicine, New Haven, CT 06510, USA.; Bilguvar K; Yale School of Medicine, New Haven, CT 06510, USA.; Papavasileiou A; Department of Pediatric Neurology, Penteli Children's Hospital, 152 36 Athens, Greece.; Xing Q; Institute of Biomedical Science and Children's Hospital Fudan University, 201102 Shanghai, China.; Zhu C; Perinatal Center, Sahlgrenska Academy, Gothenburg University, 413 46 Gothenburg, Sweden; Hospital of Zhengzhou University, 450001 Zhengzhou, China.; Boysen K; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Vairo F; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Lanpher BC; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Klee EW; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Tillema JM; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Payne ET; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Cousin MA; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Wick MJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Baker J; University of Illinois Chicago College of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA.; Haan E; Adult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.; Smith N; Department of Neurology, Women's and Children's Hospital, University of Adelaide, North Adelaide, SA 5006, Australia.; Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Corbett MA; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; MacLennan AH; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; Gecz J; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; Biskup S; CeGaT, 72076 Tübingen, Germany.; Goldmann E; Department of Human Genetics, University of Tübingen, 72076 Tübingen, Germany.; Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02215, USA.; Kichula E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Segal E; Northeast Regional Epilepsy Group, Hackensack University Medical Center, Hackensack, NJ 07601, USA.; Jackson KE; University of Louisville, Louisville, KY 40292, USA.; Asamoah A; University of Louisville, Louisville, KY 40292, USA.; Dimmock D; Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.; McCarrier J; Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.; Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84113, USA.; Filloux F; Division of Pediatric Neurology, Departments of Pediatrics and Neurology, University of Utah, Salt Lake City, UT 84113, USA.; Tvrdik T; ARUP Laboratories, Salt Lake City, UT 84108, USA.; Cascino GD; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Klingerman S; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Neumann C; Division of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA.; Wang R; Division of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92617, USA.; Jacobsen JC; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Nolan MA; Department of Neurology, Starship Children's Health, Auckland 1023, New Zealand.; Snell RG; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Lehnert K; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South 6242, New Zealand.; Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.; Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.; Guerrini R; Department of Neuroscience, Azienda Ospedaliero-Universitaria Meyer, University of Florence, 50139 Florence, Italy.; Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Leonhard J; Medical Genetics, Sanford Health, Bemidji, MN 56601, USA.; Kringlen G; Medical Genetics, Sanford Health, Fargo, ND 58102, USA.; Casas K; Medical Genetics, Sanford Health, Fargo, ND 58102, USA.; El Achkar CM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.; Smith LA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Rotenberg A; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.; Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Carss KJ; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Zeman A; Department of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Raymond FL; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.; Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.; Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Ruiz K; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Urquhart J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Hughes I; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; The Florey Institute and Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Zamponi GW; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Mefford HC; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Bowles, B.; Ferrer, A.; Pinto e Vairo, F.; Babovic-Vuksanovic, D.; Lanpher, B.C.; Klee, E.W.; Nishimura, C.J.; Smith, R.J.; Rey, T.; Bloch-Zupan, A.; Gérard, B.; Leheup, B.; Sullivan, J.; Schoch, K.; Shashi, V.; Stong, N.; Agolini, E.; Cocciadiferro, D.; Loddo, S.; Genovese, S.; Williams, A.; Cummings, A.; Hamm, J.A.; Roadhouse, C.; Li, C.; McWalter, K.; Wentzensen, I.M.; Dentici, M.L.; Dallapiccola, B.; Radio, F.C.; Ankala, A.; Acosta, M.T.; Adam, M.; Adams, D.R.; Agrawal, P.B.; Alejandro, M.E.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Azamian, M.S.; Bacino, C.A.; Bademci, G.; Baker, E.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bennet, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonnenmann, C.; Bonner, D.; Botto, L.; Boyd, B.; Briere, L.C.; Brokamp, E.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Chang, T.C.P.; Chanprasert, S.; Chao, H.-T.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cooper, C.M.; Cope, H.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D'Souza, P.; Dai, H.; Dasari, S.; Davids, M.; Dayal, J.G.; Deardorff, M.; Dell'Angelica, E.C.; Dhar, S.U.; Dipple, K.; Doherty, D.; Dorrani, N.; Douine, E.D.; Draper, D.D.; Duncan, L.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Esteves, C.; Estwick, T.; Falk, M.; Fernandez, L.; Ferreira, C.; Fieg, E.L.; Findley, L.C.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Fresard, L.; Gahl, W.A.; Glass, I.; Godfrey, R.A.; Golden-Grant, K.; Goldman, A.M.; Goldstein, D.B.; Grajewski, A.; Groden, C.A.; Gropman, A.L.; Gutierrez, I.; Hahn, S.; Hamid, R.; Hanchard, N.A.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Isasi, R.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Johnston, J.M.; Karaviti, L.; Kelley, E.G.; Kennedy, J.; Kiley, D.; Kohane, I.S.; Kohler, J.N.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Korrick, S.; Koziura, M.; Krier, J.B.; Lalani, S.R.; Lam, B.; Lam, C.; Lanza, I.R.; Lau, C.C.; LeBlanc, K.; Lee, B.H.; Lee, H.; Levitt, R.; Lewis, R.A.; Lincoln, S.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Majcherska, M.M.; Mak, B.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Markello, T.C.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Martínez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCormack, C.E.; McCray, A.T.; McGee, E.; Mefford, H.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.M.; Morimoto, M.; Mulvihill, J.J.; Murdock, D.R.; Nakano-Okuno, M.; Nath, A.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Palmer, C.G.S.; Papp, J.C.; Parker, N.H.; Phillips, J.A.; Posey, J.E.; Potocki, L.; Pusey, B.N.; Quinlan, A.; Raskind, W.; Raja, A.N.; Rao, D.A.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenwasser, N.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Samson, S.L.; Saporta, M.; Scott, C.R.; Schaechter, J.; Schedl, T.; Scott, D.A.; Sharma, P.; Shin, J.; Signer, R.; Sillari, C.H.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solem, E.; Solnica-Krezel, L.; Spillmann, R.C.; Stoler, J.M.; Sullivan, K.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor, H.K.; Tamburro, C.P.; Tan, Q.K.-G.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.J.; Toro, C.; Tran, A.A.; Tucker, B.M.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Wallace, S.; Walley, N.M.; Walsh, C.A.; Walker, M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Wener, M.; Wenger, T.; Perry, K.W.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Woods, J.D.; Yamamoto, S.; Yang, J.; Yu, G.; Zastrow, D.B.; Zhao, C.; Zuchner, S.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, August 2021, 185(8):2417-2433)