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.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
3.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772379
4.
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Am J Hum Genet
; 110(1): 92-104, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563679
5.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
6.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
7.
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
8.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
9.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
10.
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
em Inglês
| MEDLINE | ID: mdl-37580113
11.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
12.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
13.
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
em Inglês
| MEDLINE | ID: mdl-34375587
14.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
15.
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
16.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Hum Genomics
; 17(1): 39, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138343
17.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
18.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Hum Mol Genet
; 29(24): 3892-3899, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355653
19.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
20.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225