Detalhe da pesquisa
1.
Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage.
Cell
; 151(1): 206-20, 2012 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22981692
2.
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
3.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743207
4.
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Hum Mutat
; 43(2): 143-157, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806794
5.
Prioritizing genes for systematic variant effect mapping.
Bioinformatics
; 36(22-23): 5448-5455, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300982
6.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Am J Med Genet A
; 188(9): 2642-2651, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570716
7.
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
8.
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
Pediatr Cardiol
; 43(3): 616-623, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714385
9.
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
10.
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
11.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
12.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573057
13.
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Genet Med
; 21(1): 114-123, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895855
14.
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
J Pediatr
; 215: 172-177.e2, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31610925
15.
Integrating diverse datasets improves developmental enhancer prediction.
PLoS Comput Biol
; 10(6): e1003677, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24967590
16.
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
Lancet Respir Med
; 10(5): 459-468, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051411
17.
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.
Fam Cancer
; 21(3): 305-308, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622392
18.
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
19.
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
20.
Scalable detection of technically challenging variants through modified next-generation sequencing.
Mol Genet Genomic Med
; 10(12): e2072, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251442