Detalhe da pesquisa
1.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Am J Hum Genet
; 107(1): 124-136, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32574564
2.
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.
Hum Mol Genet
; 29(2): 238-247, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813999
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.
Open Excision of Olecranon Melorheostosis to Relieve Elbow Extension Block.
J Hand Surg Am
; 47(1): 93.e1-93.e5, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648811
5.
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
Hum Genet
; 139(12): 1531-1539, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533363
6.
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Hum Genet
; 139(2): 215-226, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848685
7.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology
; 70(3): 899-910, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664273
8.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A
; 114(10): E1923-E1932, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223510
9.
Identification and Repurposing of Trisubstituted Harmine Derivatives as Novel Inhibitors of Mycobacterium tuberculosis Phosphoserine Phosphatase.
Molecules
; 25(2)2020 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31963843
10.
Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.
Gastroenterology
; 152(1): 206-217.e2, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693347
11.
Identification of consensus binding sites clarifies FMRP binding determinants.
Nucleic Acids Res
; 44(14): 6649-59, 2016 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378784
12.
Genome-wide alterations in hippocampal 5-hydroxymethylcytosine links plasticity genes to acute stress.
Neurobiol Dis
; 86: 99-108, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26598390
13.
Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress.
Neurobiol Dis
; 96: 54-66, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27576189
14.
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.
Hum Mol Genet
; 23(20): 5479-91, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24876161
15.
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Gastroenterology
; 149(6): 1575-1586, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278503
16.
Differentially methylated plasticity genes in the amygdala of young primates are linked to anxious temperament, an at risk phenotype for anxiety and depressive disorders.
J Neurosci
; 34(47): 15548-56, 2014 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411484
17.
Age-associated DNA methylation in pediatric populations.
Genome Res
; 22(4): 623-32, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300631
18.
Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
Proc Natl Acad Sci U S A
; 114(40): E8323, 2017 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916730
19.
Array-based assay detects genome-wide 5-mC and 5-hmC in the brains of humans, non-human primates, and mice.
BMC Genomics
; 15: 131, 2014 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24524199
20.
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus.
BMC Med Genet
; 14: 18, 2013 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23356558