Detalhe da pesquisa
1.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
2.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894057
3.
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
4.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(5): 994-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091183
5.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
6.
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Am J Med Genet A
; 179(1): 43-49, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556256
7.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Hum Mutat
; 39(9): 1246-1261, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924900
8.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
9.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
10.
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
Clin Genet
; 95(2): 334-335, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30353918
11.
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Eur J Hum Genet
; 31(7): 749-760, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977837
12.
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Hum Mutat
; 31(6): 722-33, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513142
13.
IMAGe syndrome: Case report with a previously unreported feature and review of published literature.
Am J Med Genet A
; 152A(12): 3138-42, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108398
14.
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Eur J Med Genet
; 62(2): 109-114, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29908352
15.
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Nat Genet
; 50(10): 1442-1451, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224647
16.
Quantifying the contribution of recessive coding variation to developmental disorders.
Science
; 362(6419): 1161-1164, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409806
17.
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
Mol Genet Genomic Med
; 5(3): 261-268, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546996
18.
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Eur J Hum Genet
; 25(6): 669-679, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28327575
19.
Association of mutations in FLNA with craniosynostosis.
Eur J Hum Genet
; 23(12): 1684-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873011
20.
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Orphanet J Rare Dis
; 8: 146, 2013 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053514