Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Sacoto MJG"'
Autor:
Schnur RE; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA. rschnur@genedx.com.; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA. rschnur@genedx.com., Yousaf S; National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Liu J; National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Chung WK; Division of Clinical Genetics, Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA., Rhodes L; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Marble M; Department of Pediatrics, Division of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, NM, USA., Zambrano RM; Department of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Pierpont ME; Departments of Pediatrics and Ophthalmology, University of Minnesota Medical School, Minneapolis, MN, USA., Schultz MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Olson RJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Graham GE; Division of Genetics, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Contreras-García GA; Division de Genética Médica, Departamento de Pediatría-Hospital Universitario de Santander, Departamento de Ciencias Básicas, Grupo de Investigación en Genética Humana UIS, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia., Campo-Neira KA; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia., Peñaloza-Mantilla CA; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia., Flage M; National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Kuppa S; National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Navarro K; National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Sacoto MJG; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Wentzensen IM; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Scarano MI; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA., Juusola J; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, MD, USA. robert.hufnagel@nih.gov.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1624-1635. Date of Electronic Publication: 2021 May 26.
Autor:
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu., Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Abe K; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Oginuma M; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Harako S; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ishitani S; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Lehesjoki AE; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ehmke N; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Holtgrewe M; Charité - Universitätsmedizin Berlin, Berlin, Germany.; Core Unit Bioinformatics - CUBI, Berlin Institute of Health, Berlin, Germany., Anderson K; Department of Pediatrics, University of Vermont Medical Center, Burlington, VT, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Edgar-Zarate CL; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Morrow MM; GeneDx, Gaithersburg, MD, USA., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA., Pappas J; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA., Rabin R; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA., Muona M; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.; Blueprint Genetics, Helsinki, Finland., Anttonen AK; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.; Department of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany., Kaname T; Department of Genome Medicine, National Center for Child Health and Developemt, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan., Kaido Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ohkuma Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Hirose Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ishitani T; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1050-1057. Date of Electronic Publication: 2021 Jan 25.
Autor:
Kour S; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Shin YB; Department of Rehabilitative Medicine, Pusan National University School of Medicine, Pusan, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Siquier K; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Cantagrel V; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute, Paris, France., Stolerman ES; Greenwood Genetic Center, Greenwood, SC, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Castro D; Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, USA., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lynch D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Collins A; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Gibbons M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Yang M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Desguerre I; Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Gitiaux C; Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER, Barcelona, Spain., Garcia-Oguiza A; Hospital Universitario Miguel Servet, Zaragoza, Spain., Osorio AN; Hospital Sant Joan de Déu, Barcelona, Spain., Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., McCurry HR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Agnihotri S; Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Andriescu EC; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Moody SB; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Phornphutkul C; Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Strom TM; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany., Leiz S; Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, Munchen, Germany., Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wang M; The First People's Hospital of Changde City, Hunan, China., Wang J; Cipher Gene Ltd, Beijing, China., Wang X; Cipher Gene Ltd, Beijing, China., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Wagner M; Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich, Munich, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.
Publikováno v:
Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.
Autor:
Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. ulrike.hueffmeier@uk-erlangen.de., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Reuter MS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA., Ahmed SA; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA., Rawson KL; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA., Barr E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Li H; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Bruel AL; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Centre de Génétique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» et FHU TRANSLAD, Hôpital D'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France., Tran Mau-Them F; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France., Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA., Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA., Burns K; Sanford Health, Sioux Falls, SD, USA., Ward DI; Sanford Health, Sioux Falls, SD, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Martinez-Agosto JA; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Nelson SF; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Zacher P; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Epilepsy Center Kleinwachau, Radeberg, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., McGaughran J; Genetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, St Lucia, Brisbane, Australia., Kohlhase J; Synlab Human Genetics Freiburg, Freiburg, Germany., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Moran E; Clinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA., Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA., Raas-Rothschild A; Sackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.; Institute of Rare Diseases, Edmond & Lily Safra Children Hospital, Tel Hashomer, Israel., Sacoto MJG; GeneDx, Gaithersburg, MD, 20877, USA., Henderson LB; GeneDx, Gaithersburg, MD, 20877, USA., Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA., Mullegama SV; GeneDx, Gaithersburg, MD, 20877, USA., Zghal Elloumi H; GeneDx, Gaithersburg, MD, 20877, USA., Reich A; GeneDx, Gaithersburg, MD, 20877, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Wahl E; Division of Genetics, UBMD Pediatrics, Buffalo, NY, USA., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 18; Vol. 16 (1), pp. 136. Date of Electronic Publication: 2021 Mar 18.
Autor:
Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany. theresa.brunet@mri.tum.de., McWalter K; GeneDx, Inc., Gaithersburg, MD, USA., Mayerhanser K; Institute of Human Genetics, Technical University Munich, Munich, Germany., Anbouba GM; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Armstrong-Javors A; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Baugh E; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Begtrup A; GeneDx, Inc., Gaithersburg, MD, USA., Bupp CP; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Del Rey Jimenez JC; St George's Genomics Service, St George's University Hospitals NHS FT, London, UK., Demmer L; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Fleischer N; FDNA Inc., Boston, MA, USA., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ghate S; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Green SR; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Kdissa A; CENTOGENE AG, Rostock, Germany., Klee D; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lancaster E; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London, UK., Meeks NJL; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mittag D; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Moore H; INTEGRIS Pediatric Specialties/Medical Genetics, Oklahoma City, OK, USA., Olsen AK; Department of Pediatric, Soerlandet Sykehus Kristiansand, Kristiansand, Norway., Ortiz D; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Parsons G; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Person RE; GeneDx, Inc., Gaithersburg, MD, USA., Punj S; GeneDx, Inc., Gaithersburg, MD, USA., Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia., Sacoto MJG; GeneDx, Inc., Gaithersburg, MD, USA., Bradley Schaefer G; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Schnur RE; GeneDx, Inc., Gaithersburg, MD, USA., Scott TM; Texas Children's Hospital, Houston, TX, USA.; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA., Scott DA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Serbinski CR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Siu VM; Department of Pediatrics, Western University, London, ON, Canada., Stadheim BF; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia., Velsher L; Genetics Program, North York General Hospital, Toronto, ON, Canada., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Wentzensen IM; GeneDx, Inc., Gaithersburg, MD, USA., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Winkelmann J; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Neurogenetics, Technische Universität München, Munich, Germany., Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Zech M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 384-395. Date of Electronic Publication: 2020 Nov 11.
Autor:
Guo H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address: guohui@sklmg.edu.cn., Zhang Q; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Dai R; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Department of Psychiatry, SUNY Upstate Medical University, Syracuse, NY 13210, USA., Yu B; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Tan J; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Tan S; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Jia X; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10027, USA., Hernan R; Department of Pediatrics and Medicine, Columbia University, New York, NY 10027, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alsulaiman A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Pons L; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Labalme A; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Laux L; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Bryant E; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Brown NJ; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3010, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Savva E; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3010, Australia., Ayres S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3010, Australia., Eratne D; Melbourne Genomics Health Alliance, Melbourne, VIC 3010, Australia; Neuropsychiatry, Royal Melbourne Hospital, Melbourne, VIC 3010, Australia., Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven 3000, Belgium., Bilan F; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Letienne-Cejudo L; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Ruiz-Arana IL; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Merlini JM; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Boizot A; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Bartoloni L; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Santoni F; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland; Faculty of Biology and Medicine, University of Lausanne, Lausanne 1005, Switzerland., Karlowicz D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Wu H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Hu Z; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Chen G; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Ou J; Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan 410078, China., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Dreyer I; Department of Pediatrics, Hospital Sønderjylland, Aabenraa 6200, Denmark., Chun-Hui Tsai A; Department of Pediatrics/Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma, OK 73019, USA; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO 80045, USA., Slegesky V; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO 80045, USA., McGee RB; Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Daniels B; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Carpenter LA; Saint Francis Health System, Inc. St Francis Health Systems, Tulsa, OK 74101, USA., Schaefer B; Arkansas Children's Hospital, Little Rock, AR 72202, USA., Sacoto MJG; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA., Punj S; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Rhodes L; GeneDx, Gaithersburg, MD 20877, USA., Pan Q; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Bernier RA; Department of Psychiatry, University of Washington, Seattle, WA 98195, USA., Chen C; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., 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., Xia K; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address: xiakun@sklmg.edu.cn.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 963-976.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Autor:
Pilarowski GO; Predoctoral Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Vernon HJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA., Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Boukas L; Predoctoral Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Cho MT; GeneDx, Gaithersburg, Maryland, USA., Gurnett CA; Department of Neurology, Division of Pediatric Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA., Benke PJ; Joe DiMaggio Children's Hospital, Florida Atlantic School of Medicine, Hollywood, Florida, USA., Beaver E; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA., Heeley JM; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA., Medne L; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Azage M; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA., Niyazov D; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA., Henderson LB; GeneDx, Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Baskin B; GeneDx, Gaithersburg, Maryland, USA., Sacoto MJG; GeneDx, Gaithersburg, Maryland, USA., Bowman GD; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA., Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Publikováno v:
Journal of medical genetics [J Med Genet] 2018 Aug; Vol. 55 (8), pp. 561-566. Date of Electronic Publication: 2017 Sep 02.
Autor:
Tanaka AJ; Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA., Cho MT; GeneDx, Gaithersburg, Maryland 20877, USA., Willaert R; GeneDx, Gaithersburg, Maryland 20877, USA., Retterer K; GeneDx, Gaithersburg, Maryland 20877, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA., Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA., Stefans V; Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA., Oishi K; Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Williamson A; Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, Texas 75230, USA, and Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas 79430, USA., Basinger A; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Barbaro-Dieber T; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Ortega L; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Sorrentino S; Department of Genetics and Metabolism, Valley Children's Hospital, Madera, California 93636, USA., Gabriel MK; Children's Hospital of Los Angeles, Los Angeles, California 90027, USA., Anderson IJ; Department of Genetics, University of Tennessee, Knoxville, Tennessee 37996, USA., Sacoto MJG; GeneDx, Gaithersburg, Maryland 20877, USA., Schnur RE; GeneDx, Gaithersburg, Maryland 20877, USA., Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA.; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Nov 21; Vol. 3 (6). Date of Electronic Publication: 2017 Nov 21 (Print Publication: 2017).
Autor:
Yan K; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada., Rousseau J; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA., Kiss C; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada., Lehman A; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Stumpel CTR; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Nguyen TTM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Fu H; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Ajeawung NF; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Camurri MV; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Li L; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada., Gardham A; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK., Panis B; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard 6419, the Netherlands., Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Sacoto MJG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Baskin B; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands., Parker MJ; Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield S5 7AU, UK., Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK., McKinnon M; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., MacKenzie JJ; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada; Division of Clinical Genetics, Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Campeau PM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada; Department of Pediatrics, Sainte-Justine Hospital and University of Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca., Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address: xiang-jiao.yang@mcgill.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 91-104. Date of Electronic Publication: 2016 Dec 08.
Autor:
Akintunde, J. K.1 (AUTHOR) akintundejacob@gmail.com, Abinu, O. S.1 (AUTHOR), Taiwo, K. F.1 (AUTHOR), Sodiq, R. A.1 (AUTHOR), Folayan, A. D.1 (AUTHOR), Ate, A. D.1 (AUTHOR)
Publikováno v:
Neurotoxicity Research. Dec2022, Vol. 40 Issue 6, p2148-2166. 19p.