GfH 2022

Tobias B. Haack

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	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