Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
3.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065709
4.
Systematic reanalysis of copy number losses of uncertain clinical significance.
J Med Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604752
5.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
6.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
7.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
J Med Genet
; 60(8): 740-746, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442995
8.
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
J Med Genet
; 59(4): 385-392, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766936
9.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716235
10.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910932
11.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
J Med Genet
; 59(2): 115-121, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758026
12.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879512
13.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet
; 101(2): 255-259, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713892
14.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Br J Dermatol
; 187(6): 948-961, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986704
15.
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
Am J Hum Genet
; 103(2): 213-220, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075112
16.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genet Med
; 23(10): 1969-1976, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113003
17.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469
18.
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
J Med Genet
; 55(2): 114-121, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074561
19.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
20.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Ophthalmology
; 124(7): 985-991, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341476