Detalhe da pesquisa
1.
Gene Discovery for Complex Traits: Lessons from Africa.
Cell
; 171(2): 261-264, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985555
2.
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
Cell
; 154(3): 518-29, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911319
3.
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections.
Cell
; 148(3): 434-46, 2012 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22304914
4.
Genetic heterogeneity in human disease.
Cell
; 141(2): 210-7, 2010 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20403315
5.
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans.
Cell
; 140(5): 717-30, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20211140
6.
2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.
Am J Hum Genet
; 108(3): 386-391, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667391
7.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
8.
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
J Clin Immunol
; 43(1): 151-164, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063261
9.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321325
10.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
11.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864888
12.
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Breast Cancer Res Treat
; 193(2): 485-494, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353237
13.
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
J Med Genet
; 58(12): 850-852, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060287
14.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Proc Natl Acad Sci U S A
; 116(52): 26798-26807, 2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843900
15.
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.
Proc Natl Acad Sci U S A
; 116(18): 9008-9013, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975761
16.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Hum Mol Genet
; 28(1): 133-142, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247636
17.
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Am J Hum Genet
; 103(1): 19-29, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29887214
18.
Essential Role of BRCA2 in Ovarian Development and Function.
N Engl J Med
; 379(11): 1042-1049, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207912
19.
De novo mutation in RING1 with epigenetic effects on neurodevelopment.
Proc Natl Acad Sci U S A
; 115(7): 1558-1563, 2018 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386386
20.
BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.
Proc Natl Acad Sci U S A
; 115(6): 1316-1321, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367421