المؤلفون: Trevino CE; Department of Human Genetics, Emory University, Atlanta, Georgia., Rounds JC; Department of Cell Biology, Emory University, Atlanta, Georgia., Charen K; Department of Human Genetics, Emory University, Atlanta, Georgia., Shubeck L; Department of Human Genetics, Emory University, Atlanta, Georgia., Hipp HS; Department of Gynecology and Obstetrics, Emory University, Atlanta, Georgia., Spencer JB; Department of Gynecology and Obstetrics, Emory University, Atlanta, Georgia., Johnston HR; Department of Human Genetics, Emory University, Atlanta, Georgia., Cutler DJ; Department of Human Genetics, Emory University, Atlanta, Georgia., Zwick ME; Department of Human Genetics, Emory University, Atlanta, Georgia; Department of Pediatrics, Emory University, Atlanta, Georgia., Epstein MP; Department of Human Genetics, Emory University, Atlanta, Georgia., Murray A; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Macpherson JN; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Mila M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain., Berry-Kravis E; Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois., Hall DA; Department of Neurological Sciences, Rush University, Chicago, Illinois., Leehey MA; Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado., Liu Y; Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado., Welt C; Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine, Salt Lake City, Utah., Warren ST; Department of Human Genetics, Emory University, Atlanta, Georgia; Department of Pediatrics, Emory University, Atlanta, Georgia; Department of Biochemistry, Emory University, Atlanta, Georgia., Sherman SL; Department of Human Genetics, Emory University, Atlanta, Georgia; Department of Pediatrics, Emory University, Atlanta, Georgia., Jin P; Department of Human Genetics, Emory University, Atlanta, Georgia., Allen EG; Department of Human Genetics, Emory University, Atlanta, Georgia. Electronic address: emgrave@emory.edu.

المصدر: Fertility and sterility [Fertil Steril] 2021 Sep; Vol. 116 (3), pp. 843-854. Date of Electronic Publication: 2021 May 18.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-5653 (Electronic) Linking ISSN: 00150282 NLM ISO Abbreviation: Fertil Steril Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Fragile X Mental Retardation Protein/*genetics , Menopause/*genetics , Ovary/*physiopathology , Primary Ovarian Insufficiency/*genetics, Adult ; Age Factors ; Animals ; Animals, Genetically Modified ; Case-Control Studies ; Drosophila melanogaster/genetics ; Female ; Fertility/genetics ; Genetic Background ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Middle Aged ; Phenotype ; Primary Ovarian Insufficiency/diagnosis ; Primary Ovarian Insufficiency/physiopathology ; Risk Assessment ; Risk Factors

المؤلفون: Trevino CE; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Holleman AM; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA., Corbitt H; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA., Maslen CL; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA., Rosser TC; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Johnston HR; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Rambo-Martin BL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Oberoi J; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Dooley KJ; Sibley Heart Center Cardiology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA., Capone GT; Kennedy Krieger Institute, Baltimore, MD, USA., Reeves RH; Department of Physiology and the Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Keavney BD; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Agopian AJ; Human Genetics Center; Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA., Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gruber PJ; Department of Surgery, Yale School of Medicine, New Haven, CT, USA., O'Brien JE Jr; The Ward Family Heart Center, Section of Cardiac Surgery, Children's Mercy Hospital, Kansas City, MO, USA., Bittel DC; College of Biosciences, Kansas City University of Medicine and Biosciences, Kansas City, MO, USA., Wadhwa L; Texas Children's Hospital, Houston, TX, USA., Cua CL; Heart Center, Nationwide Children's Hospital, Columbus, OH, USA., Moskowitz IP; Departments of Pediatrics, Pathology, and Human Genetics, The University of Chicago, Chicago, IL, USA., Mulle JG; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Sherman SL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Zwick ME; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA. mzwick@emory.edu.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. mzwick@emory.edu.

المصدر: Scientific reports [Sci Rep] 2021 Jul 20; Vol. 11 (1), pp. 15164. Date of Electronic Publication: 2021 Jul 20.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Trevino CE; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Holleman AM; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA., Corbitt H; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA., Maslen CL; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA., Rosser TC; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Johnston HR; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Rambo-Martin BL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Oberoi J; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Dooley KJ; Sibley Heart Center Cardiology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA., Capone GT; Kennedy Krieger Institute, Baltimore, MD, USA., Reeves RH; Department of Physiology and the Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Keavney BD; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Agopian AJ; Human Genetics Center; Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA., Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gruber PJ; Department of Surgery, Yale School of Medicine, New Haven, CT, USA., O'Brien JE Jr; The Ward Family Heart Center, Section of Cardiac Surgery, Children's Mercy Hospital, Kansas City, MO, USA., Bittel DC; College of Biosciences, Kansas City University of Medicine and Biosciences, Kansas City, MO, USA., Wadhwa L; Texas Children's Hospital, Houston, TX, USA., Cua CL; Heart Center, Nationwide Children's Hospital, Columbus, OH, USA., Moskowitz IP; Departments of Pediatrics, Pathology, and Human Genetics, The University of Chicago, Chicago, IL, USA., Mulle JG; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA., Sherman SL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Zwick ME; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA. mzwick@emory.edu.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. mzwick@emory.edu.

المصدر: Scientific reports [Sci Rep] 2020 Oct 22; Vol. 10 (1), pp. 18051. Date of Electronic Publication: 2020 Oct 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Antigens, Neoplasm* , Cell Cycle Proteins* , Cytoskeletal Proteins* , Genome-Wide Association Study* , Receptor, Notch4*, Down Syndrome/*genetics , Heart Septal Defects/*genetics, Cohort Studies ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Risk ; Whole Genome Sequencing

SCR Disease Name: Atrioventricular Septal Defect

المؤلفون: Kotlar AV; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Trevino CE; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Zwick ME; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Wingo TS; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. thomas.wingo@emory.edu.; Division of Neurology, Atlanta VA Medical Center, Atlanta, GA, USA. thomas.wingo@emory.edu.; Department of Neurology, Emory University School of Medicine, 505K Whitehead Building, 615 Michael Street NE, Atlanta, GA, 30322-1047, USA. thomas.wingo@emory.edu.

المصدر: Genome biology [Genome Biol] 2018 Feb 06; Vol. 19 (1), pp. 14. Date of Electronic Publication: 2018 Feb 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Software*, Molecular Sequence Annotation/*methods , Whole Genome Sequencing/*methods, Genomics ; Internet ; Natural Language Processing