Detalhe da pesquisa
1.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541186
2.
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.
Genet Med
; 26(6): 101115, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436216
3.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Genet Med
; : 101166, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767059
4.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
5.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
6.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Genet Med
; 25(4): 100353, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481303
7.
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Europace
; 26(1)2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195854
8.
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Circulation
; 144(20): 1600-1611, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587765
9.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
10.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
11.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med
; 23(2): 259-271, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093671
12.
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
J Genet Couns
; 30(6): 1707-1718, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34096130
13.
Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient.
J Genet Couns
; 28(4): 878-886, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050105
14.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964584
15.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706981
16.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
J Genet Couns
; 28(6): 1107-1118, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31478310
17.
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.
J Genet Couns
; 27(4): 751-760, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234989
18.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408292
19.
Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?
Genet Med
; 21(3): 539-541, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997392
20.
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy.
Circ Genom Precis Med
; 17(2): e004370, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38506054