Detalhe da pesquisa
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934770
2.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Am J Hum Genet
; 109(7): 1217-1241, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675825
3.
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
J Med Genet
; 61(4): 405-409, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050058
4.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
5.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
6.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
7.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
8.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab
; 140(3): 107657, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523899
9.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
10.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
11.
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Clin Genet
; 102(6): 494-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046955
12.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999436
13.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Hum Mol Genet
; 28(21): 3543-3551, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31423530
14.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
15.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
16.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
17.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet
; 32(3): 353-356, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396997
18.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949313
19.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203228
20.
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med
; 21(4): 982-986, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279471