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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genet Med. 2021 Mar;23(3):488-497. doi: 10.1038/s41436-020-01003-x. Epub 2020 Oct 20.
Genet Med. 2021.
PMID: 33077892
Free PMC article.
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A.
Steward CA, et al. Among authors: lucy raymond f.
NPJ Genom Med. 2019 Dec 2;4:31. doi: 10.1038/s41525-019-0106-7. eCollection 2019.
NPJ Genom Med. 2019.
PMID: 31814998
Free PMC article.
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'We have been in lockdown since he was born': a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK.
Wolstencroft J, Hull L, Warner L, Akhtar TN, Mandy W; IMAGINE-ID consortium; Skuse D.
Wolstencroft J, et al.
BMJ Open. 2021 Sep 30;11(9):e049386. doi: 10.1136/bmjopen-2021-049386.
BMJ Open. 2021.
PMID: 34593495
Free PMC article.
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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium; Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB.
Noor A, et al. Among authors: lucy raymond f.
Sci Transl Med. 2010 Sep 15;2(49):49ra68. doi: 10.1126/scitranslmed.3001267.
Sci Transl Med. 2010.
PMID: 20844286
Free PMC article.
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Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO.
Albuquerque AS, et al.
Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008.
Clin Exp Immunol. 2023.
PMID: 36722341
Free PMC article.
No abstract available.
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Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome.
Naville M, Ishibashi M, Ferg M, Bengani H, Rinkwitz S, Krecsmarik M, Hawkins TA, Wilson SW, Manning E, Chilamakuri CS, Wilson DI, Louis A, Lucy Raymond F, Rastegar S, Strähle U, Lenhard B, Bally-Cuif L, van Heyningen V, FitzPatrick DR, Becker TS, Roest Crollius H.
Naville M, et al. Among authors: lucy raymond f.
Nat Commun. 2015 Apr 24;6:6904. doi: 10.1038/ncomms7904.
Nat Commun. 2015.
PMID: 25908307
Free PMC article.
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