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1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38593811
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36528028
3.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32330417
4.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32197074
5.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol
; 92(1): 138-153, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35340043
6.
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Am J Med Genet A
; 191(6): 1619-1625, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36905087
7.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35194938
8.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35934918
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36868207
10.
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Am J Hum Genet
; 100(6): 843-853, 2017 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28502612
11.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet
; 100(1): 128-137, 2017 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28017372
12.
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 22(4): 821, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31857706
13.
Building dialogues between clinical and biomedical research through cross-species collaborations.
Semin Cell Dev Biol
; 70: 49-57, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28579453
14.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 21(12): 2755-2764, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31263215
15.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Am J Med Genet A
; 179(3): 475-479, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30569621
16.
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Am J Med Genet A
; 173(10): 2680-2689, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28815871
17.
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Nature
; 468(7321): 263-9, 2010 Nov 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-21068835
18.
Investigation of synapse formation and function in a glutamatergic-GABAergic two-neuron microcircuit.
J Neurosci
; 34(3): 855-68, 2014 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24431444
19.
Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome.
J Neurosci
; 33(50): 19518-33, 2013 Dec 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-24336718
20.
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition.
bioRxiv
; 2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38260399