Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
2.
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
Am J Hum Genet
; 105(2): 334-350, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31374203
3.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
4.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
5.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
6.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
7.
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genet Med
; 21(1): 161-172, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907797
8.
Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).
Twin Res Hum Genet
; 21(5): 394-397, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30001766
9.
Using ERDS to infer copy-number variants in high-coverage genomes.
Am J Hum Genet
; 91(3): 408-21, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939633
10.
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
Am J Hum Genet
; 91(2): 303-12, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863191
11.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 100(1): 179, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061364
12.
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Am J Hum Genet
; 91(2): 293-302, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863189
13.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Genet Med
; 17(10): 774-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590979
14.
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Genet Med
; 16(2): 176-82, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23928913
15.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Genet Med
; 16(10): 751-8, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24651605
16.
Copy number variation of KIR genes influences HIV-1 control.
PLoS Biol
; 9(11): e1001208, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140359
17.
Large recurrent microdeletions associated with schizophrenia.
Nature
; 455(7210): 232-6, 2008 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-18668039
18.
Priorities and standards in pharmacogenetic research.
Nat Genet
; 37(7): 671-81, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15990888
19.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet
; 86(5): 707-18, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398883
20.
The importance of dynamic re-analysis in diagnostic whole exome sequencing.
J Med Genet
; 54(3): 155-156, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899421