부산대학교 도서관

Cif, L; Demailly, D; Lin, JP; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Isfahani, S Attaripour; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Study, Deciphering Developmental Disorders; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Consortium, Genomics England Research; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; BioResource, NIHR; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, PF; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Network, Undiagnosed Diseases; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA

Brain. 2020 Dec 5;143(11):3242-3261

Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città Della Salute e Della Scienza, Turin, Italy.; Adams KA; Cyclic Vomiting Syndrome Association, Milwaukee, Wisconsin, USA.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California, San Francisco, California, USA.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città Della Salute e Della Scienza, Turin, Italy.

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

Pfalzer AC; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.; COMBINEDBrain, 1510 Old Hickory Boulevard, Brentwood, TN 37027, USA.; Ivers B; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.; Haynam A; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.; Drake B; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.; Koolen DA; Radboud University Medical Center, Nijmegen, the Netherlands.; Kasri NN; Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BBA; Radboud University Medical Center, Nijmegen, the Netherlands.; Mefford HC; St Jude Children's Research Hospital, Memphis, TN, USA.; Morgan A; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Bichell TJ; COMBINEDBrain, Brentwood, TN, USA.; Simon E; COMBINEDBrain, Brentwood, TN, USA.; Terala A; COMBINEDBrain, Brentwood, TN, USA.; Myers KA; Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Point A; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.

Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Bouman A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Bouwmeester RN; Department of Pediatric Nephrology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; van Vlimmeren LA; Department of Rehabilitation and Pediatric Physical Therapy, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; Burger P; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine, Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Santé et de la Recherche Médicale (INSERM U1258), Université de Strasbourg, Illkirch, France.; Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine, Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Santé et de la Recherche Médicale (INSERM U1258), Université de Strasbourg, Illkirch, France.; University of Strasbourg, Institute for Advanced Studies (USIAS), Strasbourg, France.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; de Kleuver M; Department of Orthopedic Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.; Klein WM; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands.; Geelen JM; Developmental and Genetic Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA.; Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.; Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, 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

Shalev D; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Blum Meirovitch S; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Mandel JL; GenIDA, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Department of Neurogenetics and Translational Medicine, University of Strasbourg, Illkirch, France; Institute for Advanced Studies of the University of Strasbourg (USIAS), University of Strasbourg, Strasbourg, France.; Burger P; GenIDA, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Department of Neurogenetics and Translational Medicine, University of Strasbourg, Illkirch, France.; Rosenfeld A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Edith Wolfson Medical Center, Holon, Israel.; Ben Simon GJ; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sheba Talpiot Medical Leadership Program, Tel Hashomer, Israel.; Landau Prat D; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sheba Talpiot Medical Leadership Program, Tel Hashomer, Israel. Electronic address: daphna.landau@gmail.com.

Publisher: Elsevier Country of Publication: England NLM ID: 0045312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1715-3360 (Electronic) Linking ISSN: 00084182 NLM ISO Abbreviation: Can J Ophthalmol Subsets: MEDLINE

Nabais Sá MJ; Venselaar H; Wiel L; Trimouille A; Lasseaux E; Naudion S; Lacombe D; Piton A; Vincent-Delorme C; Zweier C; Reis A; Trollmann R; Ruiz A; Gabau E; Vetro A; Guerrini R; Bakhtiari S; Kruer MC; Amor DJ; Cooper MS; Bijlsma EK; Barakat TS; van Dooren MF; van Slegtenhorst M; Pfundt R; Gilissen C; Willemsen MA; de Vries BBA; de Brouwer APM; Koolen DA

GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Genetics in Medicine, 22, 4, pp. 797-802

Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. maggie.wong@mpi.nl.; Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Braden RO; Epilepsy Research Centre, Department of Medicine and Paediatrics, University of Melbourne Austin Health Victoria, Melbourne, VIC, Australia.; Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Alagöz G; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine and Paediatrics, University of Melbourne Austin Health Victoria, Melbourne, VIC, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Corbally J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Mendoza E; Institut für Verhaltensbiologie, Freie Universität Berlin, Berlin, Germany.; Claassen WJJ; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Barnett C; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Barnett M; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Torino, Torino, Italy.; Medical Genetics Unit, Città della Salute e della Scienza, University Hospital, Turin, Italy.; Carli D; Department of Medical Genetics, University of Torino, Torino, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, Italy.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, UK.; Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano (Torino), Italy.; Jansen NA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Moroni A; Department of Neurosciences Rita Levi-Montalcini, University of Torino, Torino, Italy.; Mowat D; Centre for Clinical Genetics, Sydney Children's Hospitals Network Randwick, Randwick, NSW, Australia.; Discipline of Paediatrics and Child Health, Faculty of Clinical Medicine, UNSW, Randwick, NSW, Australia.; Murray L; Genetics of Learning Disability Service, Royal North Shore Hospital, St Leonards, Sydney, NSW, Australia.; Novara F; Microgenomics srl, Pavia, Italy.; Peron A; Human Pathology, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.; Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine and Paediatrics, University of Melbourne Austin Health Victoria, Melbourne, VIC, Australia.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Turner SJ; Epilepsy Research Centre, Department of Medicine and Paediatrics, University of Melbourne Austin Health Victoria, Melbourne, VIC, Australia.; Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Vignoli A; Child Neuropsychiatry Unit, ASST Grande Ospedale Metropolitano Niguarda, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Vino A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Weber S; Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France.; Chung WK; Department of Pediatrics, Boston Children's Hospital Boston, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Gerard M; Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France.; López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.; Palmer E; Discipline of Paediatrics and Child Health, Faculty of Clinical Medicine, UNSW, Randwick, NSW, Australia.; Genetics of Learning Disability Service, Royal North Shore Hospital, St Leonards, Sydney, NSW, Australia.; Morgan AT; Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia.; van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. simon.fisher@mpi.nl.

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

Nabais Sá, MJ; Jensik, PJ; McGee, SR; Parker, MJ; Lahiri, N; McNeil, EP; Kroes, HY; Hagerman, RJ; Harrison, RE; Montgomery, T; Splitt, M; Palmer, EE; Sachdev, RK; Mefford, HC; Scott, AA; Martinez-Agosto, JA; Lorenz, R; Orenstein, N; Berg, JN; Amiel, J; Heron, D; Keren, B; Cobben, JM; Menke, LA; Marco, EJ; Graham, JM; Pierson, TM; Karimiani, EG; Maroofian, R; Manzini, MC; Cauley, ES; Colombo, R; Odent, S; Dubourg, C; Phornphutkul, C; de Brouwer, APM; de Vries, BBA; Vulto-vanSilfhout, AT; Palmer, Elizabeth

Genetics in Medicine, 21, 9, pp. 2059-2069

Rahimi MJ; Urban N; Wegler M; Sticht H; Schaefer M; Popp B; Gaunitz F; Morleo M; Nigro V; Maitz S; Mancini GMS; Ruivenkamp C; Suk EK; Bartolomaeus T; Merkenschlager A; Koboldt D; Bartholomew D; Stegmann APA; Sinnema M; Duynisveld I; Salvarinova R; Race S; de Vries BBA; Trimouille A; Naudion S; Marom D; Hamiel U; Henig N; Demurger F; Rahner N; Bartels E; Hamm JA; Putnam AM; Person R; Jamra RA; Oppermann H

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: In Process; MEDLINE

Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.

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

Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Sandal P; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Biologics Discovery, Abbott Laboratories, 100 Abbott Park Road, Abbott Park, IL 60064, United States.; Jong CJ; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Merrill RA; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Department of Molecular Physiology and Biophysics, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Kollman GJ; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Paden AH; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Bend EG; PreventionGenetics, Part of Exact Sciences, 3800 S Business Park Ave, Marshfield, WI 54449, United States.; Sullivan J; Department of Pediatrics, University of North Carolina Chapel Hill, 260 MacNider Hall, CB# 7220, 333 South Columbia St., Chapel Hill, NC 27599-7220, United States.; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States.; Spillmann RC; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States.; Shashi V; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States.; Vulto-van Silfhout AT; Department of Clinical Genetics, Maastricht University Medical Center, P. Debyelaan 25, Maastricht 6229 HX, the Netherlands.; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; Pfundt R; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; de Vries BBA; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; Li PP; Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 N Wolfe St, CMSC 8-117, Baltimore, MD 21287, United States.; Bicknell LS; Department of Biochemistry, University of Otago, 710 Cumberland St., Dunedin North, Dunedin 9016, New Zealand.; Strack S; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Iowa Neuroscience Institute, Intellectual and Developmental Disabilities Research Center, University of Iowa, Carver College of Medicine, Iowa City, IA 52242, United States.

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

Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Deciphering Developmental Disorders Study; Lord, CJ; Vissers, LELM; de Vries, BBA

American Journal of Human Genetics, 100, 4, pp. 650-658
Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, J C, Marco, E J, Willemsen, M H, Kleefstra, T, Hannibal, M, Shieh, J T, Lynch, S A, Flinter, F, FitzPatrick, D R, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, E A H, Wessels, M W, van Slegtenhorst, M A, Monaghan, K G, de Vries, P, Veltman, J A, Lord, C J & Vissers, L E L M & de Vries, B B A 2017, ' De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome ', American Journal of Human Genetics, vol. 100, no. 4, pp. 650-658 . https://doi.org/10.1016/j.ajhg.2017.02.005

Bert B.A. de Vries; Guido J. Breedveld; Wouter H. Deelen; Martijn H. Breuning; Martinus F. Niermeijer; Peter Heutink

American Journal of Medical Genetics. 113:391-391

Denommé-Pichon, AS; Bruel, AL; Duffourd, Y; Safraou, H; Thauvin-Robinet, C; Tran Mau-Them, F; Philippe, C; Vitobello, A; Jean-Marçais, N; Moutton, S; Thevenon, J; Faivre, L; Matalonga, L; de Boer, E; Gilissen, C; Hoischen, A; Kleefstra, T; Pfundt, R; de Vries, BBA; Willemsen, MH; Vissers, LELM; Jackson, A; Banka, S; Clayton-Smith, J; Benetti, E; Fallerini, C; Renieri, A; Ciolfi, A; Dallapiccola, B; Pizzi, S; Radio, FC; Tartaglia, M; Ellwanger, K; Graessner, H; Haack, TB; Zurek, B; Havlovicova, M; Macek, M; Ryba, L; Schwarz, M; Votypka, P; López-Martín, E; Posada, M; Mencarelli, MA; Rooryck, C; Trimouille, A; Verloes, A; Abbott, KM; Kerstjens, M; Martín, EL; Maystadt, I; Morleo, M; Nigro, V; Pinelli, M

Hebbink JA; Neurology, Radboudumc, Nijmegen, the Netherlands.; Niermeijer JF; Paediatric Neurology, Elisabeth Tweesteden Hospital, Tilburg, the Netherlands.; Vroegindeweij E; Neurology, Elisabeth Tweesteden Hospital, Tilburg, the Netherlands.; de Vries BBA; Clinical Genetics, Radboudumc, Nijmegen, the Netherlands.; Pegge S; Radiology, Radboudumc, Nijmegen, the Netherlands.; Kamsteeg EJ; Human Genetics, Radboudumc, Nijmegen, the Netherlands; and.; Willemsen MAAP; Paediatric Neurology, Amalia Children's Hospital Radboudumc, Nijmegen, the Netherlands.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Colin F; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; INSERM UMR_S1109, Tumor Biomechanics Lab, University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.; Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Mazzucotelli T; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Strehle A; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.; Collot N; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Broly E; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires, O-Rares, Filière Santé Maladies rares Tête Cou, European Reference Network ERN CRANIO, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.; Morgan AT; Murdoch Children's Research Institute, Parkville, Australia.; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Melbourne, Australia.; Myers KA; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Bloch-Zupan A; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires, O-Rares, Filière Santé Maladies rares Tête Cou, European Reference Network ERN CRANIO, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Department Clinical Genetics, Erasmus MC Rotterdam, The Netherlands.; Parrend P; ICube laboratory (Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie), UMR 7357, Université de Strasbourg, CNRS, Strasbourg, France.; EPITA, Strasbourg, France.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.; Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

St John M; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia.; van Reyk O; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Amor DJ; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Morgan AT; Murdoch Children's Research Institute, Parkville, VIC, Australia. angela.morgan@mcri.edu.au.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.; Speech Pathology Department, Royal Children's Hospital, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.

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

Rekerle L; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Danis D; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Rehburg F; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Graefe ASL; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Bily V; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Caballero-Oteyza A; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite Center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.; Cacheiro P; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Chimirri L; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Connelly E; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.; Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.; Duyzend MH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Freiberger T; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Gehle P; Deutsches Herzzentrum der Charité, Berlin, Germany.; Groza T; Bioinformatics Institute, Agency for Science, Technology and Research (A(∗)STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore.; Hansen P; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Jacobsen JOB; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Klocperk A; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.; Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.; Love MI; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.; Marcello AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Mordhorst A; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.; Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health, Partner Site Leipzig/Dresden, Dresden, Germany.; Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Strauss T; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Vladyka O; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.; Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; Thun S; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.; Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.; Haendel MA; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany; ELLIS - the European Laboratory for Learning and Intelligent Systems, Tübingen, Germany. Electronic address: peter.robinson@bih-charite.de.

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