Tobias B. Haack

Referate
Zeit ID Programmpunkt  
17.03.2022
10:00–10:15
W1-001 
Factors impacting scalability of genome analyses beyond the exome in clinical routine
Redezeit: 15 min
in Session:
Workshop 1
Technology and Bioinformatics

Abstracts (Beteiligung als Autor)
Zeit ID Programmpunkt  
17.03.2022
10:00–10:15
W1-001 
Factors impacting scalability of genome analyses beyond the exome in clinical routine
17.03.2022
10:15–10:30
W2-002 
FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model
17.03.2022
10:30–10:45
W3-003 
Secondary findings in patients undergoing exome and genome sequencing: Experience based on 12788 patients
17.03.2022
10:45–11:00
W2-004 
Gene burden analysis identifies UCHL1 as a novel cause of autosomal dominant neurodegeneration with spasticity, ataxia, neuropathy, and optic atrophy
17.03.2022
11:00–11:15
W3-005 
Loss-of-function variants in KIF21A cause autosomal recessive severe fetal akinesia with arthrogryposis multiplex
17.03.2022
14:24–14:27
P-CancG-033 
Genome sequencing of HBOC patients in routine diagnostics
17.03.2022
14:39–14:42
P-MonoG-185 
Single center study to identify the genetic pathology in 1000 cases of hereditary retinal disease and optic neuropathy using genome sequencing
17.03.2022
14:42–14:45
P-Techno-197 
Efficacy of conventional fragment analyses and exome sequencing as diagnostic approach for movement disorders- data from a single center study
17.03.2022
15:08–15:10
P-ClinG-049 
Diagnostic RFC1 fragment length analysis in 372 patients with suspected CANVAS disease
17.03.2022
15:24–15:26
P-Techno-199 
Gene Expression and Genomic Variant Validation with RNA from Blood
17.03.2022
15:24–15:26
P-ClinG-069 
Compound heterozygous variants in spart cause mitochondrial dysfunction and cell cycle arrest associated with troyer syndrome
18.03.2022
11:12–11:15
P-MonoG-146 
Diagnostic yield of trio genome sequencing as first-tier analysis for rare diseases
18.03.2022
11:42–11:44
P-MonoG-142 
Further delineation of the ZNF292-associated phenotypic spectrum
18.03.2022
12:08–12:10
P-ClinG-068 
PHIP-associated Chung-Jansen syndrome: report of 14 new individuals
18.03.2022
12:10–12:12
P-ClinG-070 
Diagnosis of congenital contractural arachnodactyly (CCA) in a 12-year-old boy by clinical score and a novel de novo missense variant in FBN2