Detalhe da pesquisa
1.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
2.
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Am J Med Genet A
; 188(9): 2617-2626, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670295
3.
ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Am J Hum Genet
; 102(6): 1158-1168, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861105
4.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
5.
Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Dev Neurosci
; 43(3-4): 222-229, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350863
6.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
7.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
8.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Am J Med Genet A
; 185(6): 1700-1711, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751773
9.
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach.
Epilepsia
; 62(7): 1617-1628, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075580
10.
Intracranial calcifications in childhood: Part 2.
Pediatr Radiol
; 50(10): 1448-1475, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32642802
11.
Intracranial calcifications in childhood: Part 1.
Pediatr Radiol
; 50(10): 1424-1447, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32734340
12.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041561
13.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040692
14.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
; 99(4): 802-816, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616483
15.
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ann Neurol
; 83(1): 153-165, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283439
16.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
17.
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet
; 97(3): 457-64, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299366
18.
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Am J Med Genet A
; 176(12): 2710-2719, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450772
19.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
20.
De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain
; 140(1): 49-67, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864268