Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
3.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proc Natl Acad Sci U S A
; 120(21): e2302584120, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186866
4.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
5.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
6.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
7.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
8.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
9.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
10.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940898
11.
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
Am J Med Genet A
; 188(10): 3130-3134, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833697
12.
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Am J Med Genet A
; 173(5): 1319-1327, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28296084
13.
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
Am J Hum Genet
; 90(6): 941-9, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578325
14.
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Int J Mol Sci
; 16(4): 7627-43, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25853262
15.
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
Dev Period Med
; 19(2): 149-56, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384114
16.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
17.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293138
18.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782
19.
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933790
20.
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Sci Rep
; 11(1): 11295, 2021 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050248