Detalhe da pesquisa
1.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Epilepsia
; 63(7): e68-e73, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474188
2.
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay.
Reprod Biomed Online
; 44(2): 228-238, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039224
3.
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Hum Mutat
; 42(9): 1165-1172, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196078
4.
Democratizing genomics: Leveraging software to make genetics an integral part of routine care.
Am J Med Genet C Semin Med Genet
; 187(1): 14-27, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296144
5.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
6.
The potential impact of tumor suppressor genes on human gametogenesis: a case-control study.
J Assist Reprod Genet
; 37(2): 341-346, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792669
7.
Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates.
Genet Med
; 21(6): 1400-1406, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327537
8.
Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre.
Reprod Biomed Online
; 38(2): 225-232, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30616939
9.
Two successful pregnancies following fertility preservation in a patient with anaplastic astrocytoma: a case report.
BMC Cancer
; 18(1): 544, 2018 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739361
10.
Editing the human genome: where ART and science intersect.
J Assist Reprod Genet
; 35(8): 1367-1370, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882090
11.
Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.
BMC Genet
; 18(1): 99, 2017 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29179688
12.
Validation of a multiplex genotyping platform using a novel genomic database approach.
Genet Med
; 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26226136
13.
Rate of Pathogenic Germline Variants in Patients With Lung Cancer.
JCO Precis Oncol
; 7: e2300190, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992258
14.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Front Genet
; 13: 867226, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783293
15.
Validation of Pharmacogenomic Interaction Probability (PIP) Scores in Predicting Drug-Gene, Drug-Drug-Gene, and Drug-Gene-Gene Interaction Risks in a Large Patient Population.
J Pers Med
; 12(12)2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556194
16.
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
J Bone Miner Res
; 37(2): 202-214, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633109
17.
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.
Neurol Genet
; 8(1): e650, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34926809
18.
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Kidney360
; 3(5): 900-909, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128480
19.
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
JCO Glob Oncol
; 8: e2200104, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867948
20.
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Cancers (Basel)
; 14(10)2022 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626031