Detalhe da pesquisa
1.
Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants.
Cell
; 186(23): 5165-5182.e33, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852259
2.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
3.
Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment.
bioRxiv
; 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260577
4.
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
bioRxiv
; 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798479
5.
Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants.
bioRxiv
; 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425902
6.
Distinct genetic liability profiles define clinically relevant patient strata across common diseases.
medRxiv
; 2023 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214898
7.
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
BMC Med Genomics
; 10(1): 10, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228131
8.
Indel variant analysis of short-read sequencing data with Scalpel.
Nat Protoc
; 11(12): 2529-2548, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854363
9.
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
Cold Spring Harb Mol Case Stud
; 1(1): a000422, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148569