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.
Orally Bioavailable Macrocyclic Peptide That Inhibits Binding of PCSK9 to the Low Density Lipoprotein Receptor.
Circulation
; 148(2): 144-158, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125593
3.
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
4.
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
5.
A meta-analysis on the diagnostic utility of ultrasound in pediatric distal forearm fractures.
Emerg Radiol
; 31(2): 213-228, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38311698
6.
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
7.
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
8.
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
9.
Towards accountability-centred practices: governance in OSCEs subordinating patient and practitioner clinical experience.
Adv Health Sci Educ Theory Pract
; 28(5): 1593-1613, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204520
10.
Disparities in computed tomography utilization for pediatric blunt trauma: a systematic review and meta-analysis comparing pediatric and non-pediatric trauma centers.
Emerg Radiol
; 30(6): 743-764, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740844
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
Harnessing insights from an activity system - OSCEs past and present expanding future assessments.
Med Teach
; 43(1): 44-49, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32735153