Detalhe da pesquisa
1.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genet Med
; 26(5): 101082, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281098
2.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
3.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
4.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
5.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
6.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Acta Neuropathol
; 142(2): 259-278, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095977
7.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
J Med Genet
; 57(5): 339-346, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924698
8.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Mov Disord
; 35(8): 1336-1345, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506582
9.
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Brain
; 142(6): 1573-1586, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009047
10.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
11.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
12.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Am J Med Genet A
; 179(11): 2257-2262, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390136
13.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimers Dement
; 14(12): 1632-1639, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114415
14.
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Neurobiol Dis
; 104: 97-103, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461250
15.
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Am J Med Genet A
; 170A(5): 1317-24, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833990
16.
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Eur J Hum Genet
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433263
17.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682
18.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Nat Genet
; 54(12): 1786-1794, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411364
19.
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
Acta Neuropathol Commun
; 9(1): 196, 2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922638
20.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Eur J Hum Genet
; 29(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591635