Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
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| Title: | Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. |
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| Authors: | Cheng H; Baylor Genetics, Houston, TX, 77021, USA., Dharmadhikari AV; Baylor Genetics, Houston, TX, 77021, USA., Varland S; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway., Ma N; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Domingo D; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia., Kleyner R; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Rope AF; Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA., Yoon M; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Crews SR; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Conboy E; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Xia F; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Walkiewicz M; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA., Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02114, USA., High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Naidu S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Mahida S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Palmer EE; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2031, Australia., Murray L; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Lim D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK., Giusto S; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Stracuzzi E; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Romano C; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Beighley JS; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Bernier RA; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Küry S; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Nizon M; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Corbett MA; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Shaw M; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Gardner A; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Barnett C; Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA 5006, Australia., Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Schieving J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Jongmans MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Yang Y; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA., Arnesen T; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA., Gecz J; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Meng L; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: lmeng@bcm.edu., Lyon GJ; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address: gholsonjlyon@gmail.com. |
| Source: | American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 985-994. Date of Electronic Publication: 2018 Apr 12. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29656860 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cheng+H%22">Cheng H</searchLink>; Baylor Genetics, Houston, TX, 77021, USA.<br /><searchLink fieldCode="AU" term="%22Dharmadhikari+AV%22">Dharmadhikari AV</searchLink>; Baylor Genetics, Houston, TX, 77021, USA.<br /><searchLink fieldCode="AU" term="%22Varland+S%22">Varland S</searchLink>; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Ma+N%22">Ma N</searchLink>; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Domingo+D%22">Domingo D</searchLink>; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Kleyner+R%22">Kleyner R</searchLink>; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA.<br /><searchLink fieldCode="AU" term="%22Rope+AF%22">Rope AF</searchLink>; Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA.<br /><searchLink fieldCode="AU" term="%22Yoon+M%22">Yoon M</searchLink>; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA.<br /><searchLink fieldCode="AU" term="%22Stray-Pedersen+A%22">Stray-Pedersen A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Crews+SR%22">Crews SR</searchLink>; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA.<br /><searchLink fieldCode="AU" term="%22Eldomery+MK%22">Eldomery MK</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Akdemir+ZC%22">Akdemir ZC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lewis+AM%22">Lewis AM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Agre+K%22">Agre K</searchLink>; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Xia+F%22">Xia F</searchLink>; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Walkiewicz+M%22">Walkiewicz M</searchLink>; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Longoni+M%22">Longoni M</searchLink>; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22High+FA%22">High FA</searchLink>; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22van+Slegtenhorst+MA%22">van Slegtenhorst MA</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Finnila+CR%22">Finnila CR</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22van+Haeringen+A%22">van Haeringen A</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.<br /><searchLink fieldCode="AU" term="%22den+Hollander+N%22">den Hollander N</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ruivenkamp+C%22">Ruivenkamp C</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Naidu+S%22">Naidu S</searchLink>; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Mahida+S%22">Mahida S</searchLink>; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Palmer+EE%22">Palmer EE</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2031, Australia.<br /><searchLink fieldCode="AU" term="%22Murray+L%22">Murray L</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.<br /><searchLink fieldCode="AU" term="%22Lim+D%22">Lim D</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Jayakar+P%22">Jayakar P</searchLink>; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.<br /><searchLink fieldCode="AU" term="%22Giusto+S%22">Giusto S</searchLink>; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.<br /><searchLink fieldCode="AU" term="%22Stracuzzi+E%22">Stracuzzi E</searchLink>; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.<br /><searchLink fieldCode="AU" term="%22Romano+C%22">Romano C</searchLink>; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.<br /><searchLink fieldCode="AU" term="%22Beighley+JS%22">Beighley JS</searchLink>; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Bernier+RA%22">Bernier RA</searchLink>; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Shaw+M%22">Shaw M</searchLink>; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Gardner+A%22">Gardner A</searchLink>; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+C%22">Barnett C</searchLink>; Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA 5006, Australia.<br /><searchLink fieldCode="AU" term="%22Armstrong+R%22">Armstrong R</searchLink>; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Kassahn+KS%22">Kassahn KS</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Van+Dijck+A%22">Van Dijck A</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.<br /><searchLink fieldCode="AU" term="%22Vandeweyer+G%22">Vandeweyer G</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schieving+J%22">Schieving J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongmans+MJ%22">Jongmans MJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kerr+B%22">Kerr B</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.<br /><searchLink fieldCode="AU" term="%22Rojas+SK%22">Rojas SK</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.<br /><searchLink fieldCode="AU" term="%22Person+R%22">Person R</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Willaert+R%22">Willaert R</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Wu+JC%22">Wu JC</searchLink>; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Arnesen+T%22">Arnesen T</searchLink>; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Cooper+GM%22">Cooper GM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Stessman+HAF%22">Stessman HAF</searchLink>; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA.<br /><searchLink fieldCode="AU" term="%22Meng+L%22">Meng L</searchLink>; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: lmeng@bcm.edu.<br /><searchLink fieldCode="AU" term="%22Lyon+GJ%22">Lyon GJ</searchLink>; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address: gholsonjlyon@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 985-994. <i>Date of Electronic Publication: </i>2018 Apr 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
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