Detalhe da pesquisa
1.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(2): 246-259, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661772
2.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
3.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Brain
; 144(9): 2879-2891, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687210
4.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343942
5.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
6.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
7.
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Brain
; 142(8): 2303-2318, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302675
8.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain
; 141(3): 698-712, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365063
9.
Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
Am J Med Genet B Neuropsychiatr Genet
; 177(5): 520-528, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134084
10.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(4): 777, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951678
11.
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Am J Hum Genet
; 94(4): 634-41, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702957
12.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
13.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(6): 1054-1055, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526864
14.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet
; 92(5): 807-19, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623389
15.
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
BMC Med Genet
; 17(1): 34, 2016 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27113213
16.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
17.
The genetics of lissencephaly.
Am J Med Genet C Semin Med Genet
; 166C(2): 198-210, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24862549
18.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain
; 136(Pt 2): 536-48, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361065
19.
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Am J Hum Genet
; 87(3): 354-64, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727516
20.
Neuropsychiatric disease in patients with periventricular heterotopia.
J Neuropsychiatry Clin Neurosci
; 25(1): 26-31, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23487190