Detalhe da pesquisa
1.
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.
Annu Rev Genomics Hum Genet
; 22: 285-307, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900788
2.
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Genet Med
; 26(1): 100995, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37838930
3.
Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Mol Genet Metab
; 139(1): 107565, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087815
4.
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Clin Genet
; 103(5): 503-512, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757664
5.
Fetal pharmacogenomics: A promising addition to complex neonatal care.
Mol Genet Metab
; 137(1-2): 140-145, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029725
6.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat
; 42(5): 626-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644936
7.
Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.
Curr Issues Mol Biol
; 43(2): 958-964, 2021 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449543
8.
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1807-1817, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140662
9.
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Genet Med
; 23(7): 1325-1333, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686258
10.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087887
11.
Early and consistent pattern of proximal weakness in GNE myopathy.
Muscle Nerve
; 63(2): 199-203, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197058
12.
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Annu Rev Genomics Hum Genet
; 18: 229-256, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28415856
13.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology
; 70(3): 899-910, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664273
14.
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Am J Hum Genet
; 99(5): 1140-1149, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843123
15.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040691
16.
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Clin Chem
; 70(4): 577-583, 2024 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565214
17.
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
Muscle Nerve
; 60(1): 98-103, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30990900
18.
Inferring the effect of genomic variation in the new era of genomics.
Hum Mutat
; 39(6): 756-773, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29633501
19.
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Hum Mutat
; 39(11): 1581-1592, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311380
20.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389