Detalhe da pesquisa
1.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Brain
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489591
2.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979702
3.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
4.
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Ear Hear
; 44(6): 1464-1484, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438890
5.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear Hear
; 43(3): 1049-1066, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753855
6.
Trio exome sequencing is highly relevant in prenatal diagnostics.
Prenat Diagn
; 42(7): 845-851, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958143
7.
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.
Hum Mutat
; 42(1): 25-30, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169910
8.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Front Neurol
; 14: 1276238, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125836
9.
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
Mol Syndromol
; 11(3): 135-140, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32903878
10.
The question of WGS's clinical utility remains unanswered.
Eur J Hum Genet
; 29(5): 722-723, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597733