Detalhe da pesquisa
1.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
2.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
3.
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Am J Med Genet A
; 191(9): 2440-2445, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294112
4.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805041
5.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
6.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
7.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(11): 2206, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739836
8.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269351
9.
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Hum Mutat
; 38(12): 1786-1795, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905505
10.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
; 136(7): 821-834, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28393272
11.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 105(3): 669, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491409
12.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
13.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet
; 22(11): 2177-85, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418306
14.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
15.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123976
16.
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Bone Rep
; 19: 101699, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501674
17.
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Eur J Hum Genet
; 30(3): 271-281, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521999
18.
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Eur J Hum Genet
; 28(6): 763-769, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157189
19.
EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.
Mol Autism
; 9: 5, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29416845
20.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Wellcome Open Res
; 3: 46, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900417