المؤلفون: Ronald J. Wapner, DB Goldstein, Ruth Y. Eberhardt, Eamonn R. Maher, Kilby, Dominic J. McMullan, JL Giordano, Vimla Aggarwal, Rhiannon Mellis, LS Chitty, Matthew E. Hurles, Susan Hamilton

المصدر: BJOG

مصطلحات موضوعية: Adult, medicine.medical_specialty, Population, Trisomy, Ultrasonography, Prenatal, Article, Cohort Studies, symbols.namesake, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Prospective Studies, Prospective cohort study, education, Increased nuchal translucency, Fisher's exact test, Exome sequencing, Retrospective Studies, Fetus, education.field_of_study, Obstetrics, business.industry, Obstetrics and Gynecology, medicine.disease, United Kingdom, United States, Pregnancy Trimester, First, symbols, Gestation, Female, Nuchal Translucency Measurement, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e5f0f2738357711a7d725b169ff575
https://doi.org/10.1111/1471-0528.16869

المؤلفون: Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tx, USA. Electronic address: roni.zemetlazar@bcm.edu., Ali Maktabi M; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Tx, USA., Tinfow A; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Giordano JL; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Heisler TM; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Yan Q; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Plaschkes R; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Israel., Stokes J; Department of Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland., Walsh JM; Department of Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland., Corcoran S; Department of Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland., Schindewolf E; The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Miller K; The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Talati AN; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA., Miller KA; Department of Gynecology and Obstetrics, Division of Maternal-Fetal Medicine, Johns Hopkins University School of Medicine Baltimore, MD, USA., Blakemore K; Department of Gynecology and Obstetrics, Division of Maternal-Fetal Medicine, Johns Hopkins University School of Medicine Baltimore, MD, USA., Swanson K; Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA., Ramm J; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Giessen, Germany., Bedei I; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Giessen, Germany., Sparks TN; Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA., Jelin AC; Department of Gynecology and Obstetrics, Division of Maternal-Fetal Medicine, Johns Hopkins University School of Medicine Baltimore, MD, USA., Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA., Gebb JS; The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Crosby DA; Department of Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland., Berkenstadt M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Weisz B; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Israel., Wapner RJ; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., VAN DEN Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tx, USA; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine and Reproductive and Prenatal Genetics, Baylor College of Medicine and Texas Children's Fetal Center, Houston, Tx. Electronic address: iveyver@bcm.edu.

المصدر: American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2024 Jun 22. Date of Electronic Publication: 2024 Jun 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0370476 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6868 (Electronic) Linking ISSN: 00029378 NLM ISO Abbreviation: Am J Obstet Gynecol Subsets: MEDLINE

المؤلفون: Zhao E; Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Bomback M; Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Khan A; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA., Krishna Murthy S; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA., Solowiejczyk D; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Vora NL; Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, School of Medicine, Chapel Hill, North Carolina, USA., Gilmore KL; Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, School of Medicine, Chapel Hill, North Carolina, USA., Giordano JL; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA., Wapner RJ; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA., Sanna-Cherchi S; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA., Lyford A; Department of Mathematics and Statistics, Middlebury College, Middlebury, Vermont, USA., Jelin AC; Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Gharavi AG; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA., Hays T; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 343-351. Date of Electronic Publication: 2024 Jan 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Heart Defects, Congenital*/epidemiology , Heart Defects, Congenital*/genetics , Kidney Diseases*/congenital , Urogenital Abnormalities*/genetics, Female ; Humans ; Kidney/abnormalities ; Neoplasm Proteins/genetics

المؤلفون: Giordano JL; Division of Women's Genetics, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center. Electronic address: jlg2197@cumc.columbia.edu., Wapner RJ; Division of Women's Genetics, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center.

المصدر: Seminars in perinatology [Semin Perinatol] 2024 Feb; Vol. 48 (1), pp. 151866. Date of Electronic Publication: 2023 Dec 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 7801132 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-075X (Electronic) Linking ISSN: 01460005 NLM ISO Abbreviation: Semin Perinatol Subsets: MEDLINE

مواضيع طبية MeSH: Stillbirth*/genetics , Placenta*, Pregnancy ; Humans ; Female ; Fetal Death/etiology ; Pregnancy Outcome ; Genomics

المؤلفون: Florido ME; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Genetics and Development, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA., Giordano JL; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Obstetrics and Gynecology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.

المصدر: Journal of genetic counseling [J Genet Couns] 2024 Feb; Vol. 33 (1), pp. 111-117. Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Counselors*, Humans ; Students ; Empathy ; Genetic Counseling

المؤلفون: Martino J; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Liu Q; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Vukojevic K; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Split, Croatia., Ke J; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Lim TY; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy., Khan A; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Gupta Y; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Institute for Inflammation Medicine, University of Lubeck, Germany., Perez A; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Department of Urology, Mount Sinai Medical Center, Miami, FL., Yan Z; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Milo Rasouly H; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Vena N; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Lippa N; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Giordano JL; Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY., Saraga M; Department of Pediatrics, University Hospital of Split, Split, Croatia; School of Medicine, University of Split, Split, Croatia., Saraga-Babic M; Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Split, Croatia., Westland R; Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Bodria M; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Piaggio G; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Bendapudi PK; Division of Hematology and Blood Transfusion Service, Massachusetts General Hospital, Boston, MA; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Boston, MA; Harvard Medical School, Boston, MA., Iglesias AD; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Wapner RJ; Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY., Tasic V; Medical Faculty of Skopje, University Children's Hospital, Skopje, Macedonia., Wang F; Department of Biostatistics, Columbia University, New York, NY., Ionita-Laza I; Department of Biostatistics, Columbia University, New York, NY., Ghiggeri GM; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Kiryluk K; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Sampogna RV; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Mendelsohn CL; Department of Urology, Columbia University Irving Medical Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY; Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, NY., D'Agati VD; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, NY., Gharavi AG; Department of Medicine, Columbia University Irving Medical Center, New York, NY., Sanna-Cherchi S; Department of Medicine, Columbia University Irving Medical Center, New York, NY. Electronic address: ss2517@cumc.columbia.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100983. Date of Electronic Publication: 2023 Sep 21.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Urinary Tract* , Urogenital Abnormalities*/genetics , Epilepsy*/genetics, Animals ; Mice ; Humans ; Penetrance ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Kidney/abnormalities ; Risk Factors ; Receptor-Interacting Protein Serine-Threonine Kinases/genetics

SCR Disease Name: Cakut

المؤلفون: Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Valkanas E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Biological and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Giordano JL; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA., Wang HZ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Currall BB; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pierce-Hoffman E; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kurtas NE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Whelan CW; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hao SP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jalili V; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Wong I; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Pathology, Harvard Medical School, Boston, MA, USA., Evangelista E; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemire G; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Aggarwal VS; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Gauthier LD; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tolonen C; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sahakian N; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Stevens C; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., An JY; School of Biosystem and Biomedical Science, Korea University, Seoul, South Korea., Dong S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Norton ME; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, CA, USA; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California, USA., MacKenzie TC; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, CA, USA., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Gilmore K; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Powell BC; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Brandt A; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., DiVito M; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., MacArthur DG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Levy B; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Wapner RJ; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Program in Biological and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA. Electronic address: mtalkowski@mgh.harvard.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Sep 07; Vol. 110 (9), pp. 1454-1469. Date of Electronic Publication: 2023 Aug 17.

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: 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

مواضيع طبية MeSH: Autism Spectrum Disorder*/diagnosis , Autism Spectrum Disorder*/genetics, Female ; Pregnancy ; Humans ; Pregnancy Trimester, First ; Ultrasonography, Prenatal ; Chromosome Mapping ; Exome

المؤلفون: van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100004.

نوع المنشور: Published Erratum

بيانات الدورية: 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

المؤلفون: van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Alby C; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France., Attié-Bitach T; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France., Gilmore K; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital Center (CHU), Rennes, France., Fradin M; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA., Kurtz-Nelson EC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Ahlers KP; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Ashfaq M; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., Baban A; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Borrie S; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., Busa T; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Byrne A; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia., Carriero M; Medical Genetics, University of Siena, Siena, Italy., Cesario C; Medical Genetics Lab, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy., Chong K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA., Farholt S; Department of Children and Adolescents, University Hospital Rigshospitalet, Copenhagen, Denmark., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Gorokhova S; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France; Aix Marseille University, INSERM, Marseille Medical Genetics, U 1251, Marseille, France., Govaerts LCP; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH., Lefebvre M; Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Functional Unit of Fœtal Pathology, Pathological Anatomy Department, CHR Orleans, Orleans, France., Mari F; Medical Genetics, University of Siena, Siena, Italy., Martinovic J; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; Unit of Fetal Pathology, Antoine Beclere Hospital, AP-HP, Clamart, France., Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Patrier S; Department of Pathology, CHU Charles Nicolle, Rouen, France., Popp B; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Santos-Simarro F; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Stoltenburg C; Department of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany., Thauvin-Robinet C; Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Reference Center for Rare Diseases, « Intellectual Disabilities from rare causes », CHU Dijon Bourgogne, F21000 Dijon, France., Thompson E; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Zahir FR; Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA; Howard Hughes Medical Institute, University of Washington, Seattle, WA., Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Giordano JL; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY., Wapner RJ; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Haak MC; Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1753-1760. Date of Electronic Publication: 2022 May 18.

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

بيانات الدورية: 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

مواضيع طبية MeSH: Hand Deformities, Congenital*/genetics , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Micrognathism*/genetics, Abnormalities, Multiple ; Chromosomal Proteins, Non-Histone/genetics ; Face/abnormalities ; Genetic Association Studies ; Humans ; Neck/abnormalities ; Phenotype

SCR Disease Name: Coffin-Siris syndrome

المؤلفون: Dhombres F; Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP, Paris, France., Morgan P; American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network, Bethesda, Maryland, USA., Chaudhari BP; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Filges I; University Hospital Basel and University of Basel, Medical Genetics, Basel, Switzerland., Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, San Francisco, California, USA., Lapunzina P; CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain., Roscioli T; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, New South Wales, Australia., Agarwal U; Department of Maternal and Fetal Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Beneteau C; Service de Génétique Médicale, UF 9321 de Fœtopathologie et Génétique, CHU de Nantes, Nantes, France., Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London, UK., Carmody LC; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA., Collardeau-Frachon S; Department of Pathology, University Hospital of Lyon and Soffoet, Lyon, France., Dempsey EA; St George's University of London, Molecular and Clinical Sciences Research Institute, London, UK., Dufke A; University of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany., Duyzend MH; Department of Pediatrics, Boston Children's Hospital, Boston/Cambridge, Massachusetts, USA., El Ghosh M; Sorbonne University, INSERM, LIMICS, Paris, France., Giordano JL; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA., Glad R; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway., Grinfelde I; Department of Medical Genetics and Prenatal diagnosis, Children's University Hospital, Riga, Latvia., Iliescu DG; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Craiova, Craiova, Dolj, Romania., Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Saarland, Germany., Munoz-Torres MC; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Pollazzon M; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, Reggio Emilia, Italy., Radio FC; Genetics and Rare Diseases Research Division, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Rodo C; Vall d'Hebron Hospital Campus, Maternal & Fetal Medicine, Barcelona, Spain., Silva RG; Hospital Santa Maria, Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisboa, Portugal., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Sundaramurthi JC; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA., Toro S; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Valenzuela I; Hospital Vall d'Hebron, Clinical and Molecular Genetics Area, Barcelona, Spain., Vasilevsky NA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Wapner RJ; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA., Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Haendel MA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Robinson PN; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Jun; Vol. 190 (2), pp. 231-242. Date of Electronic Publication: 2022 Jul 24.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Placenta* , Computational Biology*/methods, Infant, Newborn ; Humans ; Female ; Pregnancy ; Phenotype ; Rare Diseases ; Exome Sequencing