Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program

Autor: van der Meij, Karuna R.M., van de Pol, Qiu Ying F., Bekker, Mireille N., Martin, Linda, Gitsels-van der Wal, Janneke, van Vliet-Lachotzki, Elsbeth H., Weiss, Janneke M., Galjaard, Robert Jan H., Sistermans, Erik A., Macville, Merryn V.E., Henneman, Lidewij

Publikováno v: van der Meij, KRM, van de Pol, Q Y, Bekker, MN, Martin, L, Gitsels-van der Wal, JT, van Vliet-Lachotzki, E H, Weiss, J M, Galjaard, R-J H, Sistermans, EA, Macville, M V E & Henneman, L 2023, ' Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program ', European Journal of Human Genetics, vol. 31, no. 5, pp. 555-561 . https://doi.org/10.1038/s41431-022-01248-x
European Journal of Human Genetics, 31, 5, pp. 555-561
European Journal of Human Genetics, 31, 555-561. Nature Publishing Group
European Journal of Human Genetics, 31, 555-561
European Journal of Human Genetics, 31(5), 555-561. Nature Publishing Group

Contains fulltext : 292727.pdf (Publisher’s version ) (Open Access) Pregnant women's perspectives should be included in the dialogue surrounding the expanding offers of non-invasive prenatal testing (NIPT), especially now that technological possibi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418f405ccbec9f47a5d506713a1959d1
http://www.scopus.com/inward/record.url?scp=85143825708&partnerID=8YFLogxK

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Autor: Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A L, Koene, Saskia, Robertson, Stephen P, Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M, Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O M, Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S, van Haaften, Gijs

Publikováno v: American journal of human genetics, Vol. 109, no.4, p. 750-758 (2022)
American journal of human genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 750-758
American Journal of Human Genetics, 109(4), 750-758. CELL PRESS
Deciphering Developmental Disorders Study 2022, ' Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 750-758 . https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 4, pp. 750-758

Contains fulltext : 252023.pdf (Publisher’s version ) (Open Access) Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular proc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26baf96963f72d8c775857dfc818214
https://doi.org/10.1016/j.ajhg.2022.02.003

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Autor: Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands., Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands., Knapp K; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Fellner M; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Smithson S; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Beleza Meireles A; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Elting MW; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., Waisfisz Q; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Nowak C; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Douglas J; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Ronan A; Clinical Genetics, Hunter Genetics Unit, Waratah, NSW 2298, Australia., Brunet T; Institute of Medical Genetics, 81675 Munchen, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Department of Pediatrics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Svihovec S; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Saenz MS; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Del Viso F; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Devine P; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Rego S; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Koene S; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Deshpande C; Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Verbeek N; Department of Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, the Netherlands., van de Kamp JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Weiss JMM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain., Banne E; Kaplan Medical Center, Clalit Health Services, Rehovot 76100, Israel., Pepler A; Praxis für Humangenetik Tübingen, 72076 Tuebingen, Germany., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Laurent S; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Bijlsma E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, 21078 Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21079 Dijon, France., Sorlin A; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs,' Centre de Génétique, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21079 Dijon, France., Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA 92134, USA., Powis Z; Ambry Genetics, CA 92656, USA., Smol T; Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, 59000 Lille, France., Vincent-Delorme C; Department of Clinical Genetics, CHU Lille, 59000 Lille, France., Baralle D; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Colin E; Service de Génétique Médicale, CHU d'Angers, 49933 Angers, France., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium., Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Cormier-Daire V; Université de Paris, Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015 Paris, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France., Afenjar A; CRMR Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France., Niceta M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Terracciano A; Area di Ricerca Medicina Multimodale di Laboratorio, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Specchio N; Area di Ricerca Scienze Neurologiche e Medicina Riabilitativa, Ospedale Pediatrico Bambino Gesù, IRCCS, 00163 Rome, Italy., Tartaglia M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Rio M; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Barcia G; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Rondeau S; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Colson C; CHU Lille, Clinique de Génétique, 59000 Lille, France., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands; Department of Pediatric Cardiology, Division of Pediatrics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Mace PD; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand. Electronic address: louise.bicknell@otago.ac.nz., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands. Electronic address: g.vanhaaften@umcutrecht.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 750-758. Date of Electronic Publication: 2022 Feb 23.