Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
J Cell Mol Med
; 28(8): e18119, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38534090
3.
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Hum Mol Genet
; 30(5): 331-342, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517449
4.
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Hum Genet
; 142(4): 483-494, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797380
5.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
6.
Editorial for the IJMS Special Issue on "Molecular Genetics of Autism and Intellectual Disability".
Int J Mol Sci
; 24(12)2023 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373542
7.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Hum Mutat
; 43(10): 1472-1489, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815345
8.
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Hum Genet
; 140(4): 667-680, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469725
9.
Unexplained Female Infertility Associated with Genetic Disease Variants.
N Engl J Med
; 388(11): 1055-1056, 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920765
10.
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Am J Med Genet A
; 185(12): 3916-3923, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405946
11.
Targeted knockout of a chemokine-like gene increases anxiety and fear responses.
Proc Natl Acad Sci U S A
; 115(5): E1041-E1050, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339520
12.
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
EMBO Rep
; 19(2): 269-289, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263200
13.
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Int J Mol Sci
; 21(1)2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31906439
14.
Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish.
Am J Pathol
; 188(4): 1043-1058, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353058
15.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Hum Mol Genet
; 23(23): 6163-76, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986922
16.
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
Hum Genet
; 135(7): 757-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106595
17.
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.
N Engl J Med
; 369(2): 164-71, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23841731
18.
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
BMC Neurol
; 16: 132, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506666
19.
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Hum Mol Genet
; 22(9): 1816-25, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376982
20.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22770980