Detalhe da pesquisa
1.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Hum Mol Genet
; 27(18): 3233-3245, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905864
2.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
; 99(4): 802-816, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616483
3.
Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
J Immunol
; 195(4): 1599-607, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188062
4.
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
Nature
; 469(7329): 216-20, 2011 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21124317
5.
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.
Neuroimage
; 124(Pt B): 1115-1119, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840117
6.
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.
BMC Med Genet
; 17: 24, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005825
7.
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
J Med Genet
; 52(2): 104-10, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25412741
8.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
BMC Urol
; 16(1): 62, 2016 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27769252
9.
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
BMC Musculoskelet Disord
; 17: 80, 2016 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26879370
10.
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord
; 17(1): 462, 2016 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829420
11.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
JAMA
; 315(1): 47-57, 2016 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26746457
12.
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Hum Mol Genet
; 22(7): 1457-64, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263863
13.
Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
J Urol
; 193(5): 1637-45, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390077
14.
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.
Hum Reprod
; 30(10): 2439-51, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26209787
15.
The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.
J Child Psychol Psychiatry
; 56(12): 1356-1369, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858255
16.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404256
17.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Nature
; 459(7246): 569-73, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404257
18.
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
PLoS Genet
; 7(9): e1002293, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21980299
19.
A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
Am J Hum Genet
; 87(5): 661-6, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950786
20.
Variants of DENND1B associated with asthma in children.
N Engl J Med
; 362(1): 36-44, 2010 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20032318