المؤلفون: Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100016- (2021)

مصطلحات موضوعية: TMEM218, Joubert syndrome, Meckel syndrome, ciliopathy, cilia, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247720300166; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/cb17bef203d3435b852c3669f5b1bd38

المؤلفون: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

المساهمون: Leiden University Medical Center (LUMC), Universiteit Leiden, Erasmus University Medical Center [Rotterdam] (Erasmus MC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Rouen, Normandie Université (NU), Columbia University Medical Center (CUMC), Columbia University [New York], Baylor College of Medicine (BCM), Baylor University, This work was supported, in part, by grants from the National Institutes of Health (Grant No. R01 MH101221 [to E.E.E.]). E.E.E. is an investigator of the Howard Hughes Medical Institute.Sequencing and analysis for individual 30 was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute (Grant Nos. UM1 HG008900 and R01 HG009141).Sequencing and analysis of cases 5 and 18 was funded by the National Institute of Child Human Development (Grant Nos. K23 HD088742 and R01 HD105868 [to N.L.V.])., Emergency Medicine, Clinical Genetics, van der Sluijs, Pleuntje J, Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Arts, Peer, Byrne, Alicia, Scott, Hamish S, Santen, Gijs WE

المصدر: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, 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, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC

مصطلحات موضوعية: prenatal, genetic association, Chromosomal Proteins, Non-Histone, Micrognathism, SMARCB1, genetic vulnerability, Article, Fetal, SMARCA4, Intellectual Disability, Humans, Coffin-Siris syndrome, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BAF-complex, SMARCB, ARID1A, ARID1B BAFopathy, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Face, abnormalities, Hand Deformities, Congenital, Neck

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262acc
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK

المؤلفون: Laura C. Gemmell, Jessica L. Giordano, Eric J. Forman, Paula Brady

المصدر: Fertility and Sterility. 118:e18-e19

مصطلحات موضوعية: Reproductive Medicine, Obstetrics and Gynecology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::907eb4e68a335cc8322261142fe8d21d
https://doi.org/10.1016/j.fertnstert.2022.08.071

المؤلفون: Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C. Carmody, Sophie Collardeau‐Frachon, Esther A. Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G. Iliescu, Markus S. Ladewig, Monica C. Munoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A. Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa A Haendel, Peter N. Robinson

المساهمون: Institut Català de la Salut, [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, USA. [Chaudhari BP] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, 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, California, USA. [Lapunzina P] CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain. [Rodo C] Grup de Recerca en Medicina Materna i Fetal, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, American College of Medical Genetics and Genomics [Bethesda, MD, USA] (ACM2G), Nationwide Children's Hospital, University Hospital Basel [Basel], University of Basel (Unibas), University of California [San Francisco] (UC San Francisco), University of California (UC), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario La Paz, University of New South Wales [Canberra Campus] (UNSW), Liverpool Women's NHS Foundation Trust, Nizam's Institute of Medical Sciences (NIMS), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Mary University of London (QMUL), The Jackson Laboratory [Bar Harbor] (JAX), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Société Française de Foetopathologie [Paris] (SOFFOET), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), St George's, University of London, University of Tübingen, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Columbia University Irving Medical Center (CUIMC), University Hospital of North Norway [Tromsø] (UNN), Children's Clinical University Hospital [Riga, Latvia] (CCUH), University of Medicine and Pharmacy of Craiova, Saarland University Hospital (UKS), University of Colorado Anschutz [Aurora], AUSL di Reggio Emilia Istituto di Ricerca a Carattere Clinico Scientifico [Reggio Emilia, Italie], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Vall d'Hebron University Hospital [Barcelona], Hospital de Santa Maria [Lisboa], Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal] (CHULN), Baylor College of Medicine (BCM), Baylor University, CarMeN, laboratoire

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics, vol 190, iss 2
Scientia
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022, 190 (2), pp.231-242. ⟨10.1002/ajmg.c.31989⟩

مصطلحات موضوعية: prenatal phenotyping, [SDV]Life Sciences [q-bio], Placenta, Clinical Sciences, Diagnòstic prenatal, fetal pathology, Reproductive health and childbirth, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Rare Diseases, Pregnancy, Clinical Research, Exome Sequencing, Genetics, Humans, Genetics (clinical), Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Pediatric, Genetics & Heredity, diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas obstétricas y ginecológicas::diagnóstico prenatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], screening and diagnosis, prenatal diagnosis, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Prevention, Human Genome, Infant, Newborn, Computational Biology, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, 4.1 Discovery and preclinical testing of markers and technologies, [SDV] Life Sciences [q-bio], Fenotip, Detection, Phenotype, Good Health and Well Being, Neurological, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], GA4GH Phenopacket, Congenital Structural Anomalies, Female, Hpo, HPO, Malalties rares, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], human phenotype ontology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7868c6e2a3c2cf8b86d012bff20253c5
https://escholarship.org/uc/item/9m25x832

المؤلفون: Christie M. Buchovecky, Corette B. Parker, George R. Saade, Robert L. Goldenberg, Natalie Lippa, Halie Holmes, Andrew S. Allen, Joseph Hostyk, Mythily Ganapathi, Jessica L. Giordano, Vanessa Thorsten, Avinash V. Dharmadhikari, Halit Pinar, Ronald J. Wapner, Robert M. Silver, Uma M. Reddy, Jun Liao, David Goldstein, Anya Revah-Politi, Vimla Aggarwal, Carol J. R. Hogue, Kate E. Stanley, Gundula Povysil, Donald J. Dudley, Amanda Thomas, Michelle E. Ernst

المصدر: New England Journal of Medicine. 383:1107-1116

مصطلحات موضوعية: Genetics, 2019-20 coronavirus outbreak, Pregnancy, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), business.industry, Obstetrics, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Genetic variants, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, female genital diseases and pregnancy complications, Loss of function mutation, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, population characteristics, Medicine, 030212 general & internal medicine, business, reproductive and urinary physiology, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52253f0f7b7b7b3d470c946ad78874ae
https://doi.org/10.1056/nejmoa1908753

المؤلفون: Jessica L. Giordano, Mythily Ganapathi, Michelle E. Ernst, Ronald J. Wapner, Jun Liao, Gundula Povysil, Halit Pinar, Avinash V. Dharmadhikari, Anya Revah-Politi, Amanda Thomas, Natalie Lippa, Robert M. Silver, Vimla Aggarwal, Joseph Hostyk, David Goldstein, Halie Holmes, Andrew S. Allen, Robert L. Goldenberg, Corette B. Parker, Carol J. R. Hogue, Donald J. Dudley, Kate E. Stanley, Christie M. Buchovecky, Uma M. Reddy, George R. Saade, Vanessa Thorsten

المصدر: Obstetrical & Gynecological Survey. 76:79-81

مصطلحات موضوعية: Genetics, Casual, business.industry, Genetic variants, Obstetrics and Gynecology, Medicine, General Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b4c05737562235c2a191f2b0b5047b2
https://doi.org/10.1097/01.ogx.0000733520.96334.74

المؤلفون: David Goldstein, Melissa Stosic, Odelia Nahum, Louise Bier, Vimla S. Aggarwal, Colin D. Malone, Erica Spiegel, Brynn Levy, Jessica L. Giordano, Caroline Mebane, Ronald J. Wapner, Karen Wou, Kelly Brennan, Russell Miller, Nicholas Stong, Slavé Petrovski, Xiaolin Zhu, Quanli Wang, Sitharthan Kamalakaran, Kwame Anyane-Yeboa, Zhong Ren, Vaidehi Jobanputra

المصدر: The Lancet. 393:758-767

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Copy Number Variations, Genetic Carrier Screening, Abnormal Karyotype, Aneuploidy, Chorionic villus sampling, 030204 cardiovascular system & hematology, Ultrasonography, Prenatal, Fetal Development, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Prospective Studies, 030212 general & internal medicine, Copy-number variation, Prospective cohort study, Exome sequencing, medicine.diagnostic_test, Obstetrics, business.industry, General Medicine, medicine.disease, Chorionic Villi Sampling, Cohort, Amniocentesis, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efef268f5fe6e83dd0772d67bd974ed
https://doi.org/10.1016/s0140-6736(18)32042-7

المؤلفون: Stephen Sanders, Elise Valkanas, Charlotte Tolonen, Ryan L. Collins, Chelsea Lowther, Laura D. Gauthier, Bradford C. Powell, David Goldstein, Bernie Devlin, Benjamin Currall, Vimla S. Aggarwal, Harold Z. Wang, Heidi L. Rehm, Michael E. Talkowski, Joon Yong An, Nareh Sahakian, Diane Lucente, Xuefang Zhao, Harrison Brand, Anne H. O’Donnell-Luria, Francesco Vetrini, Jennelle C. Hodge, Shan Dong, Neeta L. Vora, Mary E. Norton, Brynn Levy, Tippi C. MacKenzie, Jessica L. Giordano, Michelle DiVito, Emily Evangelista, Kelly L. Gilmore, Kathryn O’Keefe, Alicia Brandt, Christina Austin-Tse, Ronald J. Wapner, Daniel G. MacArthur

مصطلحات موضوعية: Proband, Whole genome sequencing, Microarray, Additional diagnoses, Diagnostic test, Computational biology, Copy-number variation, Biology, Exome sequencing, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f585b72d7731ac11a0517720e6eb3459
https://doi.org/10.1101/2020.08.12.248526

المؤلفون: Elaine M. Pereira, Priyanka Ahimaz, Carli Andrews, Kwame Anyane-Yeboa, Todor Arsov, Sara M. Berger, Ilana Chilton, Diana M. Cory, Wendy K. Chung, Katia R. Dergham, Michele M. Disco, Michelle E. Ernst, Tamar Forman, Stephanie Galloway, Alexa R. Geltzeiler, Jessica L. Giordano, Emily Griffin, Edwin Guzman, Nina Harkavy, Rebecca Hernan, Anah K. Hetzler, Alejandro Iglesias, Rupinder Kakar, Catherine Kentros, Thandiwe C. Khonje, Carrie Koval, Elana Levinson, Scott Robinson, Meredith J. Ross, Fatema Sadeque-Iqbal, Erica Spiegel, Elana Spitz, Ronald J. Wapner

المصدر: Genetics in Medicine

مصطلحات موضوعية: medicine.medical_specialty, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Genetics, Medical, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Comment, New York, COVID-19, Family medicine, medicine, Humans, Center (algebra and category theory), Genetics(clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b8aa0c7a7510a6d45abf9d9e909216

المؤلفون: Melissa Stosic, Jessica L. Giordano, Brynn Levy, Ronald Wapner

المصدر: New Technologies and Perinatal Medicine ISBN: 9781315201955

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b53d21126df3922a4533a3f8a40e7335
https://doi.org/10.1201/9781315201955-36