Detalhe da pesquisa
1.
A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.
J Genet Couns
; 32(6): 1280-1287, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424058
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
4.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
5.
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
J Hum Genet
; 64(4): 271-280, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670789
6.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
7.
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
BMC Genomics
; 18(1): 403, 2017 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28539120
8.
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
Am J Med Genet A
; 170(11): 2916-2926, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748065
9.
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
10.
Laparoscopic fundoplication after lung transplantation does not appear to alter lung function trajectory.
J Heart Lung Transplant
; 42(5): 603-609, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609090
11.
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
Am J Med Genet A
; 158A(10): 2606-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903878
12.
Editorial on the Paper "The Epidemiology and Genetics of Hyperuricemia and Gout across Major Racial Groups: A Literature Review and Population Genetics Secondary Database Analysis" by Butler, Alghoubayshi and Roman.
J Pers Med
; 12(8)2022 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013280
13.
Epigenomic impacts of meditative practices.
Epigenomics
; 14(24): 1593-1608, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891912
14.
Recent Major Transcriptomics and Epitranscriptomics Contributions toward Personalized and Precision Medicine.
J Pers Med
; 12(2)2022 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207687
15.
Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action.
Pediatr Res
; 69(5 Pt 2): 92R-100R, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21293311
16.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
J Med Genet
; 47(3): 155-61, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19833603
17.
The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.
J Pers Med
; 11(12)2021 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34945826
18.
Understanding environmental epigenomics in autism spectrum disorder: an interview with Farah R Zahir.
Epigenomics
; 13(17): 1341-1345, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34553604
19.
Maternal Prenatal Exposures in Pregnancy and Autism Spectrum Disorder: An Insight into the Epigenetics of Drugs and Diet as Key Environmental Influences.
Adv Neurobiol
; 24: 143-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006359
20.
First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes.
Cureus
; 12(11): e11571, 2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33282601