Detalhe da pesquisa
1.
Challenges and potential solutions to health disparities in genomic medicine.
Cell
; 185(12): 2007-2010, 2022 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688129
2.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
3.
B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations.
Proc Natl Acad Sci U S A
; 121(1): e2310727120, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150499
4.
Studying the impact of translational genomic research: Lessons from eMERGE.
Am J Hum Genet
; 110(7): 1021-1033, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343562
5.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
6.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
; 110(11): 1950-1958, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883979
7.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
8.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
9.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
10.
OARD: Open annotations for rare diseases and their phenotypes based on real-world data.
Am J Hum Genet
; 109(9): 1591-1604, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998640
11.
Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
Am J Hum Genet
; 109(6): 981-988, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659933
12.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Am J Hum Genet
; 109(5): 961-966, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397206
13.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Am J Hum Genet
; 109(4): 571-586, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240055
14.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet
; 109(8): 1549-1558, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858628
15.
The genetic architecture of pediatric cardiomyopathy.
Am J Hum Genet
; 109(2): 282-298, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026164
16.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
17.
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.
Brief Bioinform
; 24(1)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575831
18.
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Brain
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662784
19.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
20.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Am J Hum Genet
; 108(10): 1964-1980, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547244