Detalhe da pesquisa
1.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
2.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518176
3.
Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(7): 1669, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127414
4.
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(3): 683-693, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054569
5.
RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome.
Gastroenterology
; 156(6): 1924-1925.e4, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710526
6.
Comparison of pelvic muscle architecture between humans and commonly used laboratory species.
Int Urogynecol J
; 25(11): 1507-15, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24915840
7.
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.
Cold Spring Harb Mol Case Stud
; 8(1)2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716202
8.
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
NPJ Genom Med
; 7(1): 49, 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008414
9.
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532877
10.
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
NPJ Precis Oncol
; 4: 4, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133419