Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503299
2.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37071997
3.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36458889
4.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37580113
5.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35604360
6.
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
Inglês
| MEDLINE | ID: mdl-34375587
7.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33811806
8.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38251460
9.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 95(3): 201-205, 2024 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38041684
10.
Inferring Epistasis from Genetic Time-series Data.
Mol Biol Evol
; 39(10)2022 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36130322
11.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37598857
12.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet
; 106(2): 234-245, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31928709
13.
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
Inglês
| MEDLINE | ID: mdl-33232675
14.
High activation levels maintained in receptor-binding domain-specific memory B cells in people with severe coronavirus disease 2019.
Immunol Cell Biol
; 101(2): 142-155, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36353774
15.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399132
16.
Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells.
Blood
; 138(16): 1391-1405, 2021 10 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33974080
17.
X-Linked intellectual disability update 2022.
Am J Med Genet A
; 191(1): 144-159, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36300573
18.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35904121
19.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35027293
20.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35678782