Detalhe da pesquisa
1.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37087635
2.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr
; 262: 113620, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37473993
3.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34969639
4.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32906214
5.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27181684
6.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30287922
7.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30670880
8.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25637381
9.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29907799
10.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Am J Hematol
; 93(1): 8-16, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28960434
11.
Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond.
Clin Chem
; 68(2): 269-275, 2022 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34927671
12.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artigo
Inglês
| MEDLINE | ID: mdl-26187847
13.
Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians.
Am J Hum Genet
; 90(2): 229-46, 2012 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22281367
14.
Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations.
Proc Natl Acad Sci U S A
; 109(22): 8471-6, 2012 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-22586127
15.
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
BMC Bioinformatics
; 15: 248, 2014 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-25047600
16.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27392081
17.
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Genet Med
; 15(11): 860-7, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24195999
18.
Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska.
Am J Phys Anthropol
; 148(3): 422-35, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22549307
19.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35065284
20.
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
BMC Bioinformatics
; 12: 402, 2011 Oct 19.
Artigo
Inglês
| MEDLINE | ID: mdl-22011106