Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Zuccarelli, BD"'
Autor:
Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
Publikováno v:
Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
https://europepmc.org/articles/PMC8206381/
Autor:
Cohen ASA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA. Electronic address: acohen1@cmh.edu., Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Zion TN; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Barrett CM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Moore R; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Boillat E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Farrow EG; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Zuccarelli BD; Salina Pediatric Care, Salina Regional Health Center, Salina, KS 67401, USA; Department of Pediatrics, University of Kansas School of Medicine - Salina Campus, Salina, KS 67401, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 825-832. Date of Electronic Publication: 2024 Apr 17.
Autor:
Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter EX2 5DW, UK., Quaife NM; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK., Ramos-Hernández L; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain., Danecek P; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Ferla MP; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Eberhardt RY; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge CB10 1SD, UK., Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield S10 2TH, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK., Gompertz L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK., Kirby A; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA., Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin D01 XD99, Ireland., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B4 6NH, UK., Pinz H; Department of Pediatrics, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4AY, UK., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Zuccarelli BD; Department of Neurology, University of Kansas School of Medicine-Salina Campus, Salina, KS 67401, USA., Cook SA; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Lara-Pezzi E; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain; CIBER de enfermedades CardioVasculares (CIBERCV), 28029 Madrid, Spain., Barton PJR; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK., Whiffin N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. Electronic address: nwhiffin@well.ox.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1083-1094. Date of Electronic Publication: 2021 May 21.
Autor:
Zuccarelli BD; Children's Mercy, Kansas City, MO, USA bzuccarelli@cmh.edu., Hall AS; Children's Mercy, Kansas City, MO, USA.
Publikováno v:
Clinical pediatrics [Clin Pediatr (Phila)] 2016 Jun; Vol. 55 (7), pp. 650-3. Date of Electronic Publication: 2016 Jan 24.
Autor:
Zuccarelli BD; Division of Neurology, Children's Mercy, Kansas City, Missouri. Electronic address: bzuccarelli@cmh.edu., Heshmati A; Division of Neurology, Children's Mercy, Kansas City, Missouri.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2016 Jan; Vol. 54, pp. 97-8. Date of Electronic Publication: 2015 Sep 05.