Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Mol Psychiatry
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418578
3.
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
4.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
5.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
6.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
7.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495270
8.
X-Linked intellectual disability update 2022.
Am J Med Genet A
; 191(1): 144-159, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36300573
9.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
10.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856728
11.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417013
12.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
13.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175170
14.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
15.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
16.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
17.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277917
18.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579715
19.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
20.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705