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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 3
2008 2
2009 1
2010 1
2011 1
2012 2
2013 2
2014 5
2015 8
2016 5
2017 7
2018 5
2019 6
2020 3
2021 13
2022 14
2023 11
2024 4

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79 results

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Page 1
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.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium; Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J. Schönauer R, et al. Gastroenterology. 2024 May;166(5):902-914. doi: 10.1053/j.gastro.2023.12.007. Epub 2023 Dec 13. Gastroenterology. 2024. PMID: 38101549 Free article.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Genomic newborn screening for rare diseases.
Stark Z, Scott RH. Stark Z, et al. Among authors: scott rh. Nat Rev Genet. 2023 Nov;24(11):755-766. doi: 10.1038/s41576-023-00621-w. Epub 2023 Jun 29. Nat Rev Genet. 2023. PMID: 37386126 Review.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
79 results