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1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36586412
2.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38526744
3.
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Anesthesiology
; 140(1): 52-61, 2024 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37787745
4.
Low adenoma burden in unselected patients with a pathogenic APC variant.
Genet Med
; 25(12): 100949, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37542411
5.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37161864
6.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37534744
7.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Brain
; 145(12): 4232-4245, 2022 12 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35139179
8.
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
BMC Med
; 20(1): 205, 2022 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35668420
9.
The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis.
J Genet Couns
; 31(6): 1290-1305, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35799446
10.
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Am J Med Genet C Semin Med Genet
; 187(1): 83-94, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33576083
11.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34120153
12.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32516855
13.
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Circulation
; 140(1): 42-54, 2019 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31216868
14.
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Genet Med
; 22(11): 1874-1882, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32601386
15.
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
BMC Pediatr
; 20(1): 222, 2020 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32414353
16.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29300372
17.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34408292
18.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(11): 880-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25611685
19.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(4): 319, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25835197
20.
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Genet Med
; 16(8): 601-8, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24503780