Detalhe da pesquisa
1.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329581
2.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558402
3.
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Hum Genet
; 142(3): 351-362, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477409
4.
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
Genet Med
; 24(8): 1697-1707, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532742
5.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670808
6.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
7.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Genome Med
; 14(1): 79, 2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883178
8.
Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.
Am J Med Genet A
; 161A(5): 1185-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532973
9.
Quantitative measurements of alternating finger tapping in Parkinson's disease correlate with UPDRS motor disability and reveal the improvement in fine motor control from medication and deep brain stimulation.
Mov Disord
; 20(10): 1286-98, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16001401