Detalhe da pesquisa
1.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
3.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr
; 262: 113620, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473993
4.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat
; 43(11): 1531-1544, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36086952
5.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
6.
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Brain
; 144(7): 2092-2106, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704440
7.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Genet Med
; 23(2): 323-330, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077891
8.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944481
9.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
J Hum Genet
; 65(8): 705-709, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277176
10.
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
em Inglês
| MEDLINE | ID: mdl-27181684
11.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Genet Med
; 21(11): 2644-2649, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147633
12.
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
em Inglês
| MEDLINE | ID: mdl-30287922
13.
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
em Inglês
| MEDLINE | ID: mdl-30670880
14.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
15.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595809
16.
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
em Inglês
| MEDLINE | ID: mdl-29907799
17.
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.
Clin Chem
; 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170750
18.
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
Am J Med Genet A
; 176(1): 241-245, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130632
19.
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
em Inglês
| MEDLINE | ID: mdl-28960434
20.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861