Detalhe da pesquisa
1.
Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1.
Proc Natl Acad Sci U S A
; 121(10): e2308255121, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412125
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.
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
; 39(5): 897-905, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436103
4.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
5.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
6.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
7.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
8.
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
9.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
10.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord
; 38(10): 1950-1956, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470282
11.
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
J Neural Transm (Vienna)
; 130(3): 459-471, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436153
12.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
13.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
14.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
15.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906476
16.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
17.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
18.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
19.
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Clin Genet
; 102(4): 296-304, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821609
20.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775