Detalhe da pesquisa
1.
Are Data Sharing and Privacy Protection Mutually Exclusive?
Cell
; 167(5): 1150-1154, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863233
2.
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Am J Hum Genet
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636509
3.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
4.
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Am J Hum Genet
; 110(2): 240-250, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669496
5.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
6.
EpiVar Browser: advanced exploration of epigenomics data under controlled access.
Bioinformatics
; 40(3)2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38449289
7.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526744
8.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Brain
; 146(8): 3162-3171, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043503
9.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379543
10.
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.
Genet Med
; 25(9): 100895, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194653
11.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
12.
The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine.
Clin Infect Dis
; 75(1): e902-e904, 2022 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34551091
13.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
14.
HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure.
Pharmacogenomics J
; 22(2): 124-129, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169303
15.
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Genet Med
; 23(12): 2289-2299, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257423
16.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
17.
A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation.
Biometrics
; 77(2): 424-438, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32438470
18.
An epigenome-wide association study of total serum immunoglobulin E concentration.
Nature
; 520(7549): 670-674, 2015 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25707804
19.
Pitx1 directly modulates the core limb development program to implement hindlimb identity.
Development
; 144(18): 3325-3335, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807899
20.
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Blood
; 132(19): 2040-2052, 2018 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194254