부산대학교 도서관

Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan

Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j.ajhg.2024.01.007

Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Vera G; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Schnur RE; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Juven A; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Gandhi A; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Shapiro FL; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Bruel AL; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Marguet F; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Begtrup A; GeneDx, Gaithersburg, Maryland, USA.; Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.; Safraou H; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Brasseur-Daudruy M; Radiologie pédiatrique, CHU de Rouen, Rouen, France.; Mau-Them FT; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Duffourd Y; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Faivre L; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Thauvin-Robinet C; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Philippe C; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France.

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

Schnur RE; Cooper Medical School of Rowan University, Camden, New Jersey, USA.; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Dvořáček L; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Kalsner L; Departments of Neurology and Pediatrics, Genetics Division, University of Connecticut School of Medicine, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Shapiro FL; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Grebeňová D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Yanni D; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wasserman BN; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Dyer LM; GeneDx, Gaithersburg, Maryland, USA.; Antonarakis SE; University of Geneva Medical School, Geneva, Switzerland.; Kuželová K; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.

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

Ha T; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Morgan A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.; Bartos MN; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Beatty K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Cogné B; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gerber CB; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Kopps AM; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Amor DJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.; Nizon M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.; Pasquier L; Service de Génétique Médicale, Hôpital Sud, Rennes, France.; Pfundt R; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Siu VM; London Health Sciences Center and Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Vincent M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Walsh MB; Emory Healthcare, Atlanta, Georgia, USA.; Wechsler SB; Departments of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Schnur RE; GeneDx, Gaithersburg, Maryland, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA.; Margot H; Université Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Masotto B; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Palafoll MIV; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.; Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia.; Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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

Houdayer C; Department of Medical Genetics, Angers University Hospital, Angers, France.; Phillips AM; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; School of Biosciences, The University of Melbourne, Parkville, Victoria, Australia.; Chabbert M; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.; Bourreau J; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Richards K; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children's Welfare Teaching Hospital, Baghdad, Iraq.; Dad'ová E; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.; Van Bogaert P; Department of Pediatric Neurology, Angers University Hospital, Angers, France.; Rupin M; Department of Pediatric Neurology, Angers University Hospital, Angers, France.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.; Charles P; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.; Smol T; University of Lille, CHU Lille, ULR7364 - RADEME, Institute of Medical Genetics, Lille, France.; Riquet A; Department of Pediatric Neurology, Saint Vincent de Paul Hospital, GHICL, Lille, France.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark.; Møller RS; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark.; Olofsson K; Department of Paediatrics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Syrbe S; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Dasouki M; Department of Medical Genetics, Genomics and Personalized Health at AdventHealth-Orlando, Orlando, FL, USA.; Seaver LH; Division of Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.; Sullivan JA; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA.; Shashi V; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Poss AF; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.; Spence JE; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Forster IC; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; Mckenzie CE; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; Simons C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wang M; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Snell P; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Kothur K; Department of Neuropediatrics, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Buckley M; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia.; Roscioli T; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia.; Elserafy N; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia.; Dauriat B; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Procaccio V; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Henrion D; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.; Lenaers G; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Legendre C; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.; Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Reid CA; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; Howell KB; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Ziegler A; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Department of Medical Genetics, University Hospital of Reims, Reims, France.; Legros C; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi JL; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Russi, Alvaro H Serrano; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H

Journal of Inherited Metabolic Disease, vol 43, iss 6

Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

Nature Genetics. October, 2017, Vol. 49 Issue 10, p1529, 10 p.

Dang Do AN; Office of the Clinical Director, NICHD, NIH, Bethesda, Maryland, USA.; Chang IJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Jiang X; Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.; Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Schnur RE; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA.; Allis K; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA.; Hansikova H; Department of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Ondruskova N; Department of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.; O'Connor SD; Department of Pediatrics, Washington University School of Medicine in St. Louis, Saint Louis, Missouri, USA.; Sanchez-Valle A; Division of Genetics and Metabolism, University of South Florida, Tampa, Florida, USA.; Vollo A; Department of Paediatrics, Sykehuset Ostfold HF, Fredrikstad, Norway.; Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange County, California, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, California, USA.; Wolfenson Z; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Perreault J; Office of the Clinical Director, NICHD, NIH, Bethesda, Maryland, USA.; Ory DS; Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.; Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Merritt JL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Porter FD; Section on Molecular Dysmorphology, NICHD, NIH, Bethesda, Maryland, USA.

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

Adutwum M; Children's Hospital Oakland Research Institute Summer Program, University of California San Francisco, San Francisco, California, USA.; Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Kushner JD; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA.; Khalek N; Wood Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Cristancho AG; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Burrill N; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Seifert ME; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Scarano MI; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA.; Schnur RE; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA.; Cooper Medical School of Rowan University, Camden, New Jersey, USA.; Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.

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

Besnard, Thomas; Sloboda, Natacha; Goldenberg, Alice; Küry, Sébastien; Cogné, Benjamin; Breheret, Flora; Trochu, Eva; Conrad, Solène; Vincent, Marie; Deb, Wallid; Balguerie, Xavier; Barbarot, Sébastien; Baujat, Geneviève; Ben-Omran, Tawfeg; Bursztejn, Anne-Claire; Carmignac, Virginie; Datta, Alexandre N; Delignières, Aline; Faivre, Laurence; Gardie, Betty; Gueant, Jean Louis; Kuentz, Paul; Lenglet, Marion; Nassogne, Marie-Cécile; Ramaekers, Vincent; Schnur, Rhonda E; Si, Yue; Torti, Erin; Thévenon, Julien; Vabres, Pierre; van Maldergem, Lionel; Wand, Dorothea; Wiedemann, Arnaud; Cariou, Bertrand; Redon, Richard; Lamazière, Antonin; Bézieau, Stéphane; Feillet, François; Isidor, Bertrand

Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019)

O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Charlestown, Massachusetts, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.; Sarco D; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.; Cherny S; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Bryant E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Schultz-Rogers L; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Chung WK; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Immken LL; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Holder S; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Blackwell RR; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Yusupov R; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Santos Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Brown N; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Pais L; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Ferrer A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Klee EW; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Rhodes L; GeneDx, Inc., Gaithersburg, Maryland, USA.; Person R; GeneDx, Inc., Gaithersburg, Maryland, USA.; Begtrup A; GeneDx, Inc., Gaithersburg, Maryland, USA.; Keller-Ramey J; GeneDx, Inc., Gaithersburg, Maryland, USA.; Santiago-Sim T; GeneDx, Inc., Gaithersburg, Maryland, USA.; Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA.; Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

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

Timberlake AT; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org.; Griffin C; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.; Heike CL; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.; Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.; Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.; Doust SJ; Genetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada.; Drake AF; Department of Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA.; Duenas-Roque MM; Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru.; Goldblatt J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Gustafson JA; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Hurtado-Villa P; Pontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia.; Johns A; Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Karp N; Department of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University, London, ON, Canada.; Laing NG; Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Magee L; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mullegama SV; GeneDx, Gaithersburg, MD, USA.; Pachajoa H; Universidad Icesi and Fundacion Clinica Valle del Lili, Cali, Colombia.; Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Pereira, Colombia.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Dept of Pediatrics, Cooper Medical School of Rowan University; Division of Genetics, Cooper University Health Care, Camden, NJ, USA.; Slee J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Singer SL; Perth Children's Hospital, Nedlands, WA, Australia.; Staffenberg DA; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA.; Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.; Wise CA; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.; Zarante I; Human Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.; Hospital Universitario San Ignacio, Bogotá, Colombia.; Saint-Jeannet JP; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.; Luquetti DV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA. luquetti@uw.edu.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. luquetti@uw.edu.

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

Cirillo-Hyland, Victoria A, MD; Zackai, Elaine H, MD; Honig, Paul J, MD; Grace, Kimberly R, MS; Schnur, Rhonda E, MD

Journal of the American Academy of Dermatology. 32(2):315-318

DeSanto, Cori; DʼAco, Kristin; Araujo, Gabriel C; Shannon, Nora; Study, DDD; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan

Journal of Medical Genetics. Nov 01, 2015 52(11):754-761

Houdayer C; Phillips AM; Chabbert M; Bourreau J; Maroofian R; Houlden H; Richards K; Saadi NW; Dad'ová E; Van Bogaert P; Rupin M; Keren B; Charles P; Smol T; Riquet A; Pais L; O'Donnell-Luria A; VanNoy GE; Bayat A; Møller RS; Olofsson K; Abou Jamra R; Syrbe S; Dasouki M; Seaver LH; Sullivan JA; Shashi V; Alkuraya FS; Poss AF; Spence JE; Schnur RE; Forster IC; Mckenzie CE; Simons C; Wang M; Snell P; Kothur K; Buckley M; Roscioli T; Elserafy N; Dauriat B; Procaccio V; Henrion D; Lenaers G; Colin E; Verbeek NE; Van Gassen KL; Legendre C; Bonneau D; Reid CA; Howell KB; Ziegler A; Legros C

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

Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Liebmann L; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, United Kingdom.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany.; Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Misra VK; Division of Genetic, Genomic & Metabolic Disorders, Discipline of Pediatrics, College of Medicine, Central Michigan University, Mount Pleasant, MI.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Heydaran S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad, Iran.; Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Schnur RE; GeneDx, Gaithersburg, MD.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Setzke J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Emrick L; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Hellmich UA; Friedrich Schiller University Jena, Faculty of Chemistry and Earth Sciences, Institute of Organic Chemistry and Macromolecular Chemistry, Jena, Germany; Center for Biomolecular Magnetic Resonance (BMRZ), Goethe University, Frankfurt, Germany; Cluster of Excellence Balance of the Microverse, Friedrich Schiller University Jena, Jena, Germany.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany; Center for Rare Diseases, Jena University Hospital, Jena, Germany.

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

Abdelmoumen I; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; Jimenez S; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; Valencia I; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; Melvin J; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; Legido A; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; Diaz-Diaz MM; 12320University of Puerto Rico Medical Sciences Campus, San Juan, PR, USA.; Griffith C; 7831University of South Florida, Genetics, Tampa, FL, USA.; Massingham LJ; 23325Rhode Island Hospital, Clinical Genetics, Providence, RI, USA.; Yelton M; 12311Penn State Health Children's Hospital, Clinical Genetics, Hershey, PA, USA.; Rodríguez-Hernández J; 12320University of Puerto Rico Medical Sciences Campus, San Juan, PR, USA.; Schnur RE; Division of Genetics, Cooper Medical School of Rowan University, 363994Copper University Health Care, Camden, NJ, USA.; Walsh LE; Indiana University School of Medicine, Neurology and Genetics, Indianapolis, IN, USA.; Cristancho AG; Department of Pediatrics, Division of Neurology, Epilepsy Neurogenetics Initiative, 6567Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.; Bergqvist CA; Department of Pediatrics, Division of Neurology, Epilepsy Neurogenetics Initiative, 6567Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.; McWalter K; 486649GeneDx, Gaithersburg, MD, USA.; Mathieson I; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Belbin GM; Institute for Genomic Health, 5925Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Kenny EE; Institute for Genomic Health, 5925Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ortiz-Gonzalez XR; Department of Pediatrics, Division of Neurology, Epilepsy Neurogenetics Initiative, 6567Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.; These authors contributed equally to this work.; Schneider MC; Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.; These authors contributed equally to this work.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Ahmad N; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.; Schließke S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lesca G; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France.; Gokce-Samar Z; Department of Epileptology, Lyon University Hospital, Lyon, France.; Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts.; Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri.; Burton J; University of Illinois College of Medicine, Peoria, Illinois.; Hoganson G; University of Illinois College of Medicine, Peoria, Illinois.; Petersen A; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.; Gracie S; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.; Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.; Bartels E; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kundishora A; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut.; Till M; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France.; Milleret-Pignot C; Department of Epileptology, Lyon University Hospital, Lyon, France.; Dangerfield S; University of Utah, Salt Lake City, Utah.; Viskochil D; University of Utah, Salt Lake City, Utah.; Anderson KJ; University of Utah, Salt Lake City, Utah; Department of Pediatrics, University of Vermont Medical Center, Burlington, Vermont.; Palculict TB; GeneDx, Gaithersburg, Maryland.; Schnur RE; GeneDx, Gaithersburg, Maryland.; Wentzensen IM; GeneDx, Gaithersburg, Maryland.; Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, California.; Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Kunz WS; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Burkart S; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; Simons M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.neuser@medizin.uni-leipzig.de.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Fregeau, Brieana; Kim, Bum Jun; Hernández-García, Andrés; Jordan, Valerie K; Cho, Megan T; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rosenfeld, Jill A; Bhoj, Elizabeth; Zackai, Elaine H; Sacharow, Stephanie; Barañano, Kristin; Bosch, Daniëlle GM; de Vries, Bert BA; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R; van Haelst, Mieke M; van Gassen, Koen LI; van Binsbergen, Ellen; Barkovich, A James; Scott, Daryl A; Sherr, Elliott H

Fregeau, B, Kim, B J, Hernández-García, A, Jordan, V K, Cho, M T, Schnur, R E, Monaghan, K G, Juusola, J, Rosenfeld, J A, Bhoj, E, Zackai, E H, Sacharow, S, Barañano, K, Bosch, D G M, de Vries, B B A, Lindstrom, K, Schroeder, A, James, P, Kulch, P, Lalani, S R, van Haelst, M M, van Gassen, K L I, van Binsbergen, E, Barkovich, A J, Scott, D A & Sherr, E H 2016, 'De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions', American journal of human genetics, vol. 98, no. 5, pp. 963-970. https://doi.org/10.1016/j.ajhg.2016.03.002
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