Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

Autor: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV

Publikováno v: Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
N Engl J Med

Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods We co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ca125a2f1e2095a7c5c211987eca09
https://doi.org/10.1056/nejmoa2209046

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

Autor: Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD

OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94342afc479c71541ed3bbb40f01394

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

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Autor: Chundru VK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK., Zhang Z; GeneDx, Gaithersburg, MD, USA.; Deka Biosciences, Germantown, MD, USA., Walter K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lindsay SJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Danecek P; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; MRC Epidemiology Unit, Cambridge, UK., Malawsky DS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Wigdor EM; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK., Torene R; GeneDx, Gaithersburg, MD, USA.; Geisinger, Danville, PA, USA., Retterer K; GeneDx, Gaithersburg, MD, USA.; Geisinger, Danville, PA, USA., Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK., Ólafsdóttir H; GeneDx Iceland, Reykjavík, Iceland., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Ayaz A; Istanbul Medipol University, Medical School, Department of Medical Genetics, Istanbul, Turkey., Akbeyaz IH; Marmara University Medical Faculty, Pendik Training and Research Hospital, Department of Pediatric Neurology, Istanbul, Turkey., Türkdoğan D; Marmara University Medical Faculty, Pendik Training and Research Hospital, Department of Pediatric Neurology, Istanbul, Turkey., Al Balushi AI; The Royal Hospital, Muscat Al Ghubra Area 111 Seeb, Muscat, Oman., Bertoli-Avella A; Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Bauer P; Medical Genetics, CENTOGENE GmbH, Rostock, Germany.; Clinic of Internal Medicine, Department of Hematology, Oncology, and Palliative Medicine, University Medicine Rostock, Rostock, Germany., Szenker-Ravi E; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia., Reversade B; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia., McWalter K; GeneDx, Gaithersburg, MD, USA., Sheridan E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ustach VD; GeneDx, Gaithersburg, MD, USA., Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2024 Oct; Vol. 56 (10), pp. 2046-2053. Date of Electronic Publication: 2024 Sep 23.