Detalhe da pesquisa
1.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
2.
Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.
Ann Surg Oncol
; 31(1): 325-334, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814187
3.
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel.
Genet Med
; 24(4): 821-830, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34961661
4.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
5.
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
Genet Med
; 22(5): 840-846, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32051609
6.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
7.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Haematologica
; 105(4): 870-887, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165484
8.
ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making.
Ann Surg Oncol
; 31(2): 1020, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978112
9.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Hum Mutat
; 39(12): 1875-1884, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157302
10.
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 175-186, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182442
11.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438
12.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731880
13.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genet Med
; 18(8): 823-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681312
14.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
15.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Genet Med
; 17(8): 623-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356966
16.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341575
17.
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.
Am J Obstet Gynecol
; 213(2): 214.e1-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843063
18.
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
J Natl Cancer Inst
; 116(2): 334-337, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756683
19.
Analysis of cardiac anomalies in VACTERL association.
Birth Defects Res A Clin Mol Teratol
; 97(12): 792-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24343877
20.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840