Detalhe da pesquisa
1.
WNT signalling control by KDM5C during development affects cognition.
Nature
; 627(8004): 594-603, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38383780
2.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36868206
3.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37552066
4.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35108495
5.
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/ß-catenin signalling pathway.
Mol Psychiatry
; 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38454084
6.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38526744
7.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37977818
8.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Nature
; 562(7726): 268-271, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30258228
9.
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Hum Mol Genet
; 30(7): 575-594, 2021 05 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33772537
10.
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
Am J Hum Genet
; 107(4): 654-669, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32937144
11.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33159883
12.
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
Development
; 147(21)2020 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32994169
13.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Epilepsia
; 64 Suppl 1: S14-S21, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37021642
14.
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Brain
; 145(1): 119-141, 2022 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34077496
15.
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
Nature
; 551(7680): 389-393, 2017 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-29144457
16.
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Hum Mol Genet
; 29(15): 2568-2578, 2020 08 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32667670
17.
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Am Heart J
; 244: 1-13, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34670123
18.
Common data elements to standardize genomics studies in cerebral palsy.
Dev Med Child Neurol
; 64(12): 1470-1476, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35441707
19.
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Hum Mutat
; 42(8): 1030-1041, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34082468
20.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat
; 42(7): 835-847, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33847015