Detalhe da pesquisa
1.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
2.
Predicting causal genes from psychiatric genome-wide association studies using high-level etiological knowledge.
Mol Psychiatry
; 27(7): 3095-3106, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411039
3.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
4.
Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.
J Allergy Clin Immunol
; 147(2): 727-733.e2, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980423
5.
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Am J Hum Genet
; 102(1): 142-155, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304372
6.
A copy number variation map of the human genome.
Nat Rev Genet
; 16(3): 172-83, 2015 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645873
7.
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
Blood
; 141(26): 3226-3230, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745868
8.
Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.
J Allergy Clin Immunol
; 142(2): 618-629, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29180244
9.
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
J Allergy Clin Immunol
; 141(5): 1818-1830.e2, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28826773
10.
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Genet Med
; 20(2): 172-180, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771244
11.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
12.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431110
13.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet
; 94(5): 677-94, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768552
14.
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Genet Med
; 19(11): 1268-1275, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471434
15.
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Am J Med Genet A
; 173(5): 1287-1293, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371330
16.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
17.
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Am J Hum Genet
; 93(2): 249-63, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849776
18.
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Am J Med Genet A
; 170(11): 3018-3022, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531570
19.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
20.
A novel amplification-based approach to enable gene expression profiling from small clinical tumor specimens.
J Neurooncol
; 126(1): 69-75, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26464146