Detalhe da pesquisa
1.
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification.
Hum Mol Genet
; 32(23): 3211-3224, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606238
2.
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Hum Mol Genet
; 31(23): 4087-4093, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849058
3.
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.
Genet Med
; 26(4): 101083, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281099
4.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
5.
Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager.
Am J Med Genet A
; 191(5): 1430-1433, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36808868
6.
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
Am J Med Genet A
; 191(9): 2337-2343, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37435845
7.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
J Allergy Clin Immunol
; 150(4): 947-954, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753512
8.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
9.
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Genet Med
; 24(3): 736-743, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906458
10.
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
BMC Bioinformatics
; 22(1): 181, 2021 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33832433
11.
Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.
Am J Hum Genet
; 102(4): 540-546, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526281
12.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet
; 103(6): 976-983, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449416
13.
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Am J Hum Genet
; 103(3): 358-366, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122538
14.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Genet Med
; 23(7): 1288-1295, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767344
15.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
; 23(10): 1882-1888, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040190
16.
Factors associated with provision of smoking cessation support to pregnant women - a cross-sectional survey of midwives in New South Wales, Australia.
BMC Pregnancy Childbirth
; 20(1): 219, 2020 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32295541
17.
Validity of a tool designed to assess the preventability of potentially preventable hospitalizations for chronic conditions.
Fam Pract
; 37(3): 390-394, 2020 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848589
18.
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
J Med Genet
; 56(7): 444-452, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842225
19.
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Am J Hum Genet
; 99(5): 1034-1044, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745835
20.
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