Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
3.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
J Med Genet
; 60(5): 417-429, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411032
4.
Novel Variants of SOX4 in Patients with Intellectual Disability.
Int J Mol Sci
; 24(4)2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834931
5.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Br J Cancer
; 126(9): 1339-1345, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184155
6.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
7.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
8.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
9.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873933
10.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
11.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
12.
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
J Med Genet
; 56(7): 444-452, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842225
13.
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Mol Vis
; 24: 847-852, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30713423
14.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
15.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 237, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934366
16.
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Am J Med Genet A
; 167A(9): 2052-64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097203
17.
Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control study.
PLoS One
; 15(2): e0227908, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32092068
18.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Wellcome Open Res
; 3: 46, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900417
19.
Cranio-osteoarthropathy in sibs.
Clin Dysmorphol
; 16(3): 197-201, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17551338
20.
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.
Mol Genet Genomic Med
; 5(5): 495-507, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944233