부산대학교 도서관

Allen, James P; Garber, Kathryn B; Perszyk, Riley; Khayat, Cara T; Kell, Steven A; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N; Olewiler, Leah; Mu, Weiyi; Rosenthal, Liana S; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W

Human Molecular Genetics; 2/15/2024, Vol. 33 Issue 4, p355-373, 19p

Deb W; Besnard T; Desprez F; Cogné B; Do Souto Ferreira L; Vignard V; Marouillat S; Januel L; Gorokhova S; Busa T; Morel V; Dauriat B; Desportes V; Slavotinek AM; An Y; Lee H; Hary J; Kannu P; Athey TB; van de Laar IMBH; van Slegtenhorst MA; Dickson P; Muir AM; Buchert R; Haack TB; Imort D; Sousa SB; Xavier B; Almeida PM; Rogac M; Peterlin B; Kaspar S; Netzer C; Zempel H; Towne MC; Ladda RL; Sell SS; Gawlinski P; Song X; Wiszniewski W; Calame DG; Posey JE; Ebstein F; Lupski JR; Isidor B; Bézieau S; Laumonnier F; Küry S

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

Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. vani.jain@wales.nhs.uk.; Foo SH; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; Department of Dermatology, Gleneagles Hospital Medini, Nusajaya, 79250, Johor, Malaysia.; Chooi S; School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK.; Moss C; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.; Goodwin R; Department of Dermatology, Royal Gwent Hospital, Newport, NP20 2UB, UK.; Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.; Clarke AJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.; Davies SJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Corrin S; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Doyle S; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.; Department of Clinical Genetics, The National Maternity Hospital, Holles Street, Dublin, D02 YH21, Ireland.; Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada.; Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK.; Holder SE; North West Thames Regional Genetic Service, Kennedy Galton Centre, Northwick Park Hospital, Harrow, HA1 3UJ, UK.; Johnson D; Department of Clinical Genetics, Northern General Hospital, Sheffield, S5 7AU, UK.; Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 3JH, UK.; Ladda RL; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA.; Sell S; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA.; Begtrup A; GeneDx, Gaithersburg, Maryland, 20877, USA.; Lynch SA; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.; McCann E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK.; Østern R; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway.; Pottinger C; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Fry AE; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. fryae@cardiff.ac.uk.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. fryae@cardiff.ac.uk.

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

Sees, Jack N; Towfighi, Javad; Robins, David B; Ladda, Roger L

Pediatric Pathology; 1990, Vol. 10 Issue 5, p807-818, 12p

Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. s.ferdinandusse@amsterdamumc.nl.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Te Brinke H; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; IJlst L; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Mooijer PM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; van Lint AEM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Pras-Raves M; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Wever E; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Millan F; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Begtrup A; GeneDx, Gaithersburg, MD, USA.; Tarnopolsky M; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.; Brady L; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.; Ladda RL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.; Sell SL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.; Nowak CB; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Douglas J; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Tian C; Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Ulm E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Perlman S; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.; Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Chong K; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.; Martin N; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.; Brault J; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.; Brokamp E; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.; Toro C; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Macnamara EF; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Zwijnenburg PJG; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Ziegler A; Genetic department, University Hospital Angers, Angers, France.; Barth M; Genetic department, University Hospital Angers, Angers, France.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.; Ellingwood S; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.; Gaebler-Spira D; Feinberg Northwestern University School of Medicine, Shirley Ryan Ability Lab, Chicago, IL, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.; van Kampen AHC; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Biosystems Data Analysis, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, The Netherlands.; Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Cassiman D; Department of Gastroenterology-Hepatology, Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. f.m.vaz@amsterdamumc.nl.

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

Tremblay-Laganière C; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Nguyen TTM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's Hospital, University of London, London, UK.; Next Generation Genetic Polyclinic, Mashhad, Iran.; Kirmani S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Akbar F; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Ibrahim S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Afroze B; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Doosti M; Next Generation Genetic Polyclinic, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Christoforou M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.; Ladda RL; Department of Pediatrics, Milton S Hershey Medical Centre, Hershey, PA, USA.; McLaughlin HM; Invitae Corporation, San Francisco, CA, USA.; Truty R; Invitae Corporation, San Francisco, CA, USA.; Mahida S; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Baranano K; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Ismail FY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.; Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Nagy A; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, AB, Canada.; Maki Y; Department of Chemistry, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Project Research Center for Fundamental Sciences, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Sachdev R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.; Macintosh R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; Palmer EE; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.; Steinfeld R; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.; Institute for Neurogenomics Helmholtz Zentrum München, Neuherberg, Germany.; Wortmann SB; University Children's Hospital, Paracelsus Medical School, Salzburg, Austria.; Amalias Children's Hospital, RadboudUMC, Nijmegen, the Netherlands.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK.; Brady AF; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.; Stals KL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.; Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.; Bernardo D; University of California San Francisco, Clinical Neurology, San Francisco, CA, UK.; Nugent K; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.; McLean SD; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.; Campeau PM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.; Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.

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

Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. s.ferdinandusse@amsterdamumc.nl.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Te Brinke H; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; IJlst L; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Mooijer PM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; van Lint AEM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Pras-Raves M; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Wever E; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Millan F; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Begtrup A; GeneDx, Gaithersburg, MD, USA.; Tarnopolsky M; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.; Brady L; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.; Ladda RL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.; Sell SL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.; Nowak CB; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Douglas J; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Tian C; Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Ulm E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Perlman S; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.; Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Chong K; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.; Martin N; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.; Brault J; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.; Brokamp E; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.; Toro C; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Macnamara EF; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Zwijnenburg PJG; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Ziegler A; Genetic department, University Hospital Angers, Angers, France.; Barth M; Genetic department, University Hospital Angers, Angers, France.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.; Ellingwood S; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.; Gaebler-Spira D; Feinberg Northwestern University School of Medicine, Shirley Ryan Ability Lab, Chicago, IL, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.; van Kampen AHC; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Biosystems Data Analysis, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, The Netherlands.; Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Cassiman D; Department of Gastroenterology-Hepatology, Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. f.m.vaz@amsterdamumc.nl.

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

Strehle EM; Institute of Human Genetics, Newcastle upon Tyne, United Kingdom.; Yu L; Rosenfeld JA; Donkervoort S; Zhou Y; Chen TJ; Martinez JE; Fan YS; Barbouth D; Zhu H; Vaglio A; Smith R; Stevens CA; Curry CJ; Ladda RL; Fan ZJ; Fox JE; Martin JA; Abdel-Hamid HZ; McCracken EA; McGillivray BC; Masser-Frye D; Huang T

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

Ballif BC; Signature Genomic Laboratories, Spokane, WA 99207, USA. blake.ballif@perkinelmer.com; Rosenfeld JA; Traylor R; Theisen A; Bader PI; Ladda RL; Sell SL; Steinraths M; Surti U; McGuire M; Williams S; Farrell SA; Filiano J; Schnur RE; Coffey LB; Tervo RC; Stroud T; Marble M; Netzloff M; Hanson K; Aylsworth AS; Bamforth JS; Babu D; Niyazov DM; Ravnan JB; Schultz RA; Lamb AN; Torchia BS; Bejjani BA; Shaffer LG

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Thomson Z; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Rosenberg AB; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA.; Roco CM; Department of Bioengineering, University of Washington, Seattle, WA 98105, USA.; Hirano M; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA.; Abidi F; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Park K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Zeiger J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Overmann LM; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, 11211, Saudi Arabia.; Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892 USA.; Braddock SR; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.; Cathey S; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Cho MT; GeneDx, Gaithersburg, MD 20877, USA.; Chung BHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72202, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Hopkin RJ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.; Krantz ID; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA.; Ladda RL; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA; Departments of Pathology, Milton S Hershey Medical Center, Hershey, PA 17033, USA.; Leppig KA; Genetic Services, Kaiser Permanente Washington, Seattle, WA 98112, USA.; McGillivray BC; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.; Sell S; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA.; Wusik K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.; Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.; Gerrelli D; University College London Institute of Child Health, London WC1N 1EH, UK.; Lisgo SN; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Seelig G; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA; Paul G. Allen School of Computer Science & Engineering, University of Washington, Seattle, WA 98195, USA.; Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Radiology, University of Washington, Seattle, WA 98195, USA.; Barkovich AJ; Departments of Radiology, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco, Fresno, CA, 93701, USA.; Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Millen KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address: wbd@uw.edu.

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

Duijkers FA; Amsterdam University Medical Centers, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; McDonald A; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Janssens GE; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Lezzerini M; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Jongejan A; Amsterdam University Medical Centers, University of Amsterdam, Bioinformatics Laboratory, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; van Koningsbruggen S; Amsterdam University Medical Centers, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Leeuwenburgh-Pronk WG; Amsterdam University Medical Centers, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Wlodarski MW; Department of Pediatric Hematology and Oncology, University of Freiburg, D-79106 Freiburg, Germany.; Moutton S; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire et Université de Bourgogne-Franche Comté, 21000 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon Bourgogne, F-21079 Dijon, France.; Tran-Mau-Them F; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire et Université de Bourgogne-Franche Comté, 21000 Dijon, France.; Thauvin-Robinet C; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire et Université de Bourgogne-Franche Comté, 21000 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon Bourgogne, F-21079 Dijon, France.; Faivre L; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Smol T; Université de Lille, EA 7364 - RADEME, F-59000 Lille, France; Centre Hospitalier Universitaire Lille, Institut de Génétique Médicale, F-59000 Lille, France.; Boute-Benejean O; Université de Lille, EA 7364 - RADEME, F-59000 Lille, France; Centre Hospitalier Universitaire Lille, Institut de Génétique Médicale, F-59000 Lille, France.; Ladda RL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA 17033, USA.; Sell SL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA 17033, USA.; Bruel AL; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire et Université de Bourgogne-Franche Comté, 21000 Dijon, France.; Houtkooper RH; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; MacInnes AW; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address: a.w.macinnes@amc.nl.

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

Dalal PG; Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.; Coleman M; Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.; Horst M; Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.; Rocourt D; Department of Surgery, Division of Pediatric Surgery, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.; Ladda RL; Department of Pediatrics, Department of Pediatrics, Division of Human Genetics, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.; Janicki PK; Department of Pediatrics, Department of Pediatrics, Division of Human Genetics, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.

Publisher: F1000 Research Ltd Country of Publication: England NLM ID: 101594320 Publication Model: eCollection Cited Medium: Print ISSN: 2046-1402 (Print) Linking ISSN: 20461402 NLM ISO Abbreviation: F1000Res Subsets: PubMed not MEDLINE

Banugaria SG; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.; Prater SN; Ng YK; Kobori JA; Finkel RS; Ladda RL; Chen YT; Rosenberg AS; Kishnani PS

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

Gniady JP; Department of Otolaryngology - Head & Neck Surgery, Temple University School of Medicine and the Division of Human Genetics, Growth & Development, United States.; Isaacson G; Ladda RL

Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE

O'Driscoll MC; University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, UK.; Daly SB; Urquhart JE; Black GC; Pilz DT; Brockmann K; McEntagart M; Abdel-Salam G; Zaki M; Wolf NI; Ladda RL; Sell S; D'Arrigo S; Squier W; Dobyns WB; Livingston JH; Crow YJ

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

Roggenbuck JA; Division of Genetics, Children's Hospitals and Clinics, Minneapolis, Minnesota 55404, USA. jennifer.roggenbuck@childrenshc.org; Mendelsohn NJ; Tenenholz B; Ladda RL; Fink JM

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE