Detalhe da pesquisa
1.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Am J Hum Genet
; 110(5): 846-862, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086723
2.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Proc Natl Acad Sci U S A
; 120(16): e2214997120, 2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043537
3.
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Hepatology
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557779
4.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128548
5.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
6.
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
PLoS Genet
; 18(6): e1010252, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35671298
7.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Brain
; 146(9): 3616-3623, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253099
8.
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
Cereb Cortex
; 33(6): 3012-3025, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851401
9.
A neural stem cell paradigm of pediatric hydrocephalus.
Cereb Cortex
; 33(8): 4262-4279, 2023 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097331
10.
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Hum Genet
; 142(1): 21-32, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997807
11.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
12.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
13.
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
J Lipid Res
; 63(6): 100209, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460704
14.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
15.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
16.
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.
Proc Natl Acad Sci U S A
; 116(28): 14049-14054, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235600
17.
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Proc Natl Acad Sci U S A
; 116(30): 15116-15121, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292255
18.
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Proc Natl Acad Sci U S A
; 121(12): e2319578121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466853
19.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
20.
Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen.
PLoS Pathog
; 15(4): e1007704, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951565