Detalhe da pesquisa
1.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Am J Hum Genet
; 110(7): 1034-1045, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37279760
2.
Author Correction: Tumour lineage shapes BRCA-mediated phenotypes.
Nature
; 577(7789): E1, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822847
3.
Tumour lineage shapes BRCA-mediated phenotypes.
Nature
; 571(7766): 576-579, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292550
4.
Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.
Haematologica
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450530
5.
Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.
Haematologica
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572560
6.
Germline drivers of gynecologic carcinosarcomas.
Gynecol Oncol
; 174: 34-41, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149903
7.
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Am J Hum Genet
; 105(1): 177-188, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256874
8.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609409
9.
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
Genet Med
; 24(6): 1187-1195, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346574
10.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Genet Med
; 23(7): 1372-1375, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772220
11.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Hum Mutat
; 41(1): 103-109, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444830
12.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
13.
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
Breast Cancer Res Treat
; 173(1): 79-86, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255452
14.
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Hum Mutat
; 39(7): 954-958, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696744
15.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311369
16.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986673
17.
A curated gene list for reporting results of newborn genomic sequencing.
Genet Med
; 19(7): 809-818, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079900
18.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
19.
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
BMC Med Genet
; 15: 134, 2014 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25714468
20.
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
NPJ Precis Oncol
; 7(1): 1, 2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593350