Detalhe da pesquisa
1.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Am J Hum Genet
; 111(1): 119-132, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141607
2.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
3.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
4.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681873
5.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
6.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
J Neurophysiol
; 128(1): 40-61, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583973
7.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
8.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
9.
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Hum Mutat
; 42(9): 1094-1100, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34157790
10.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
11.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
12.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
13.
Genome sequencing identifies major causes of severe intellectual disability.
Nature
; 511(7509): 344-7, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24896178
14.
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
PLoS Genet
; 13(10): e1006864, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069077
15.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
16.
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Epilepsia
; 60(1): 155-164, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30525188
17.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Am J Hum Genet
; 96(3): 386-96, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704603
18.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
19.
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Am J Med Genet A
; 173(7): 1821-1830, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498556
20.
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
J Med Genet
; 52(5): 330-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25725044