Detalhe da pesquisa
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
2.
H2A monoubiquitination: insights from human genetics and animal models.
Hum Genet
; 2023 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086328
3.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502066
4.
Histone H2A Monoubiquitination in Neurodevelopmental Disorders.
Trends Genet
; 33(8): 566-578, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669576
5.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Am J Hum Genet
; 99(2): 511-20, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453579
6.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Am J Hum Genet
; 99(2): 501-10, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453578
7.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
8.
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Hum Mol Genet
; 25(3): 597-608, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647312
9.
Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa.
Ann Rheum Dis
; 77(11): 1653-1664, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021804
10.
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Genet Med
; 20(9): 1022-1029, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300383
11.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280135
12.
Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Nat Commun
; 15(1): 1721, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409226
13.
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Cell Death Dis
; 15(5): 379, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38816421
14.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388531
15.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
; 4(3): 100198, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181331
16.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Am J Hum Genet
; 83(2): 170-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18674751
17.
Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes.
Stem Cell Reports
; 16(3): 470-477, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33577793
18.
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos.
Front Physiol
; 11: 75, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132929
19.
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Clin Dysmorphol
; 29(3): 127-131, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32459673
20.
CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression.
Sci Rep
; 10(1): 17445, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060836