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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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-16001401
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