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Page 1
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12.
N Engl J Med. 2023.
PMID: 37043637
Free PMC article.
The rise of the genome and personalised medicine.
Brittain HK, Scott R, Thomas E.
Brittain HK, et al.
Clin Med (Lond). 2017 Dec;17(6):545-551. doi: 10.7861/clinmedicine.17-6-545.
Clin Med (Lond). 2017.
PMID: 29196356
Free PMC article.
Review.
Item in Clipboard
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Stark Z, Foulger RE, Williams E, Thompson BA, Patel C, Lunke S, Snow C, Leong IUS, Puzriakova A, Daugherty LC, Leigh S, Boustred C, Niblock O, Rueda-Martin A, Gerasimenko O, Savage K, Bellamy W, Lin VSK, Valls R, Gordon L, Brittain HK, Thomas ERA, Taylor Tavares AL, McEntagart M, White SM, Tan TY, Yeung A, Downie L, Macciocca I, Savva E, Lee C, Roesley A, De Fazio P, Deller J, Deans ZC, Hill SL, Caulfield MJ, North KN, Scott RH, Rendon A, Hofmann O, McDonagh EM.
Stark Z, et al. Among authors: brittain hk.
Am J Hum Genet. 2021 Sep 2;108(9):1551-1557. doi: 10.1016/j.ajhg.2021.06.020. Epub 2021 Jul 29.
Am J Hum Genet. 2021.
PMID: 34329581
Free PMC article.
Review.
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium.
Smith CEL, et al.
J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print.
J Med Genet. 2024.
PMID: 38458752
Free article.
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Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Brittain HK, Feary J, Rosenthal M, Spoudeas H; Deciphering Developmental Disorders (DDD) Study; Wilson LC.
Brittain HK, et al.
Am J Med Genet A. 2019 Jul;179(7):1346-1350. doi: 10.1002/ajmg.a.61169. Epub 2019 May 15.
Am J Med Genet A. 2019.
PMID: 31091003
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