Detalhe da pesquisa
1.
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.
Cell
; 175(4): 1088-1104.e23, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30318146
2.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
3.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38244286
4.
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.
Neurobiol Dis
; 181: 106119, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37059210
5.
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
Hum Mol Genet
; 30(3-4): 265-276, 2021 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33693650
6.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33232677
7.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Epilepsia
; 64(8): e164-e169, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36810721
8.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906459
9.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33442900
10.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34436830
11.
Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.
Neurol Sci
; 42(10): 4309-4315, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34031796
12.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32170002
13.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34445317
14.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33530447
15.
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Am J Med Genet A
; 182(10): 2377-2383, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32744787
16.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33043602
17.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30190612
18.
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.
Int J Mol Sci
; 20(3)2019 Jan 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30691194
19.
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
Int J Mol Sci
; 19(10)2018 Oct 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30332768
20.
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.
Int J Mol Sci
; 19(7)2018 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29986434