Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.

Autor: Mone F; Centre for Public Health, Queen's University Belfast, Belfast, UK., Abu Subieh H; Department of Maternal & Fetal Medicine, Kanad Hospital, Al Ain, Abu Dhabi, United Arab Emirates., Doyle S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Mcmullan DJ; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Marton T; West Midland's Perinatal Pathology Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK., Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, UK.; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, UK.

Publikováno v: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2022 Jun; Vol. 59 (6), pp. 723-730.

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Autor: Mellis, R, Eberhardt, RY, Hamilton, SJ, PAGE Consortium, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS

Funder: National Institute for Health Research (NIHR) Biomedical Research Centre, Great Ormond Street Hospital; Id: http://dx.doi.org/10.13039/501100019256
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d927ba68607661de24123e35265fd97
https://www.repository.cam.ac.uk/handle/1810/327974

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

Autor: Mone F, McMullan DJ, Williams D, Chitty LS, Maher ER, Kilby MD

Publikováno v: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2021 Aug; Vol. 128 (9), pp. e39-e50. Date of Electronic Publication: 2021 Feb 15.

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review

Autor: Mone, F, Eberhardt, RY, Morris, RK, Hurles, ME, McMullan, DJ, Maher, ER, Lord, J, Chitty, LS, Giordano, JL, Wapner, RJ, Kilby, MD, CODE Study Collaborators

OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d2066530d2476b9af46cf720f84d37
https://www.repository.cam.ac.uk/handle/1810/310143

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Autor: Hardcastle A; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA., Berry AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Gerard AE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sisoudiya SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Tommaso S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Capolino R; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Graziani L; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Neas K; Genetic Health Service NZ, Wellington, New Zealand., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy., Di Gregorio E; Città della Salute e della Scienza University Hospital, Torino, Italy., Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.; University Hospital Southampton, Southampton, Hampshire, UK., Beneteau C; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Joubert M; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., McMullan DJ; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, UK., Dean J; Clinical Genetics Service, Ashgrove House, NHS Grampian, Aberdeen, UK., Giuffrida MG; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Bernardini L; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Varghese V; All Wales Medical Genomics Service, Cardiff, UK., Shannon NL; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Lam WWK; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, Scotland, UK., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, UK., Cole T; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Morton J; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones MC; University of California, San Diego and Rady Children's Hospital, San Diego, California, USA., Hall R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Wright M; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horridge K; South Tyneside and Sunderland NHS Foundation Trust, Sunderland, UK., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chung WK; Department of Pediatrics, Columbia University, New York, USA.; Department of Medicine, Columbia University, New York, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2958-2968. Date of Electronic Publication: 2022 Jul 29.