Search details
1.
The Parkinson's disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release.
Proc Natl Acad Sci U S A
; 118(1)2021 01 05.
Article
in English
| MEDLINE | ID: mdl-33443159
2.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32573057
3.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Genet Med
; 20(8): 855-866, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29144510
4.
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.
Hum Mutat
; 36(6): 631-7, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25765999
5.
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.
Hum Genet
; 133(2): 235-43, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24104524
6.
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.
Gastroenterology
; 144(5): 1107-1115.e3, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23336978
7.
DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments.
Bioinformatics
; 29(19): 2498-500, 2013 Oct 01.
Article
in English
| MEDLINE | ID: mdl-23943636
8.
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs.
Genome Biol
; 25(1): 29, 2024 Jan 22.
Article
in English
| MEDLINE | ID: mdl-38254182
9.
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.
Nat Commun
; 15(1): 1755, 2024 Feb 26.
Article
in English
| MEDLINE | ID: mdl-38409228
10.
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
Am J Med Genet A
; 161A(9): 2148-57, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23873582
11.
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Am J Med Genet A
; 161A(9): 2134-47, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23897863
12.
Rare genetic variants impact muscle strength.
Nat Commun
; 14(1): 3449, 2023 06 10.
Article
in English
| MEDLINE | ID: mdl-37301943
13.
The impact of rare protein coding genetic variation on adult cognitive function.
Nat Genet
; 55(6): 927-938, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37231097
14.
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
Nat Genet
; 55(3): 377-388, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36823318
15.
The burden of rare protein-truncating genetic variants on human lifespan.
Nat Aging
; 2(4): 289-294, 2022 04.
Article
in English
| MEDLINE | ID: mdl-37117740
16.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Cell Genom
; 2(9): 100168, 2022 Sep 14.
Article
in English
| MEDLINE | ID: mdl-36778668
17.
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake.
Nat Commun
; 12(1): 6411, 2021 11 05.
Article
in English
| MEDLINE | ID: mdl-34741066
18.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Nat Genet
; 53(7): 942-948, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34183854
19.
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Sci Rep
; 10(1): 2709, 2020 02 17.
Article
in English
| MEDLINE | ID: mdl-32066793
20.
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.
J Pers Med
; 6(1)2016 Feb 27.
Article
in English
| MEDLINE | ID: mdl-26927186