Detalhe da pesquisa
1.
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Genet Med
; 26(4): 101073, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245859
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.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273371
5.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet
; 140(4): 593-607, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095315
6.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Eur Respir J
; 58(2)2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33479112
7.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1005-1014, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123317
8.
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1129, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235935
9.
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
J Hum Genet
; 62(2): 229-234, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604558
10.
DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.
Hum Mol Genet
; 23(5): 1224-36, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186870
11.
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Am J Med Genet A
; 161A(6): 1329-38, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636926
12.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23345203
13.
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
medRxiv
; 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778464
14.
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
Healthcare (Basel)
; 11(24)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132069
15.
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.
medRxiv
; 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034701
16.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
ERJ Open Res
; 9(2)2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077557
17.
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.
Hum Genet
; 131(9): 1519-24, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22643917
18.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
NPJ Genom Med
; 7(1): 2, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027574
19.
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
20.
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
Am J Hum Genet
; 82(4): 927-36, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18371933