Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
4.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906476
5.
Neurological outcome in WDR62 primary microcephaly.
Dev Med Child Neurol
; 64(4): 509-517, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35726608
6.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
J Clin Immunol
; 41(3): 603-609, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411153
7.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
8.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
J Med Genet
; 57(6): 389-399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015000
9.
Covid-19 crisis impact on the next generation of physicians: a survey of 800 medical students.
BMC Med Educ
; 21(1): 529, 2021 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645453
10.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Hum Mutat
; 41(2): 512-524, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696992
11.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Am J Hum Genet
; 99(2): 511-20, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453579
12.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Am J Hum Genet
; 99(2): 451-9, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476655
13.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647
14.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
15.
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Am J Hum Genet
; 96(4): 666-74, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817018
16.
Golgipathies in Neurodevelopment: A New View of Old Defects.
Dev Neurosci
; 40(5-6): 396-416, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30878996
17.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
18.
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Hum Mol Genet
; 24(10): 2771-83, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652408
19.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
20.
Loss of α1ß1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
Am J Hum Genet
; 94(3): 385-94, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24581742