GfH 2022

Malte Spielmann

Sortierung nach Typ Sortierung nach Zeit

Referate

	Zeit	ID	Programmpunkt
	17.03.2022 11:45–12:15		Beyond the Exome: Genome sequencing as a one-test-for-all strategy in the German healthcare system Redezeit: 30 min in Session: Technical Workshop Illumina Advances in WGS: latest innovations in rare diseases

Moderation

	Zeit		Titel der Session
	17.03.2022 10:00 – 11:30		Workshop 1 Technology and Bioinformatics
	18.03.2022 09:45 – 10:45		Symposium 6 Epigenetics and Chromosome Architecture

Vorsitz

	Zeit		Titel der Session
	18.03.2022 08:45 – 09:30		Plenary Session: Joris Veltmann A de novo paradigm for sporadic genetic disease

Abstracts (Beteiligung als Autor)

	Zeit	ID	Programmpunkt
	16.03.2022 15:00–15:15	SEL-001	Single-cell phenotyping of pleiotropic developmental disorders during embryonic development at single cell resolution
	17.03.2022 15:12–15:14	P-CancG-021	Identification of RAG1/RAG2- and AID-mediated recombination events in acute B-lymphoblastic leukemia with t(5;14)(q31.1;q32.3)/IL3-IGH-fusion
	17.03.2022 15:12–15:14	P-ClinG-057	Fourth Patient With Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria Caused By A Recurrent IDH1 Mosaic Mutation
	18.03.2022 11:44–11:46	P-MonoG-144	WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
	18.03.2022 11:48–11:50	P-Compl-120	SLC1A2 is a new candidate gene for neuromyelitis optica spectrum disorder
	18.03.2022 11:56–11:58	P-MonoG-160	EVPL is a novel candidate gene for dentin dysplasia typ I
	18.03.2022 11:56–11:58	P-ClinG-056	BCORL1 variant in two male fetuses with multiple ultrasonographic abnormalities
	18.03.2022 12:00–12:02	P-ClinG-094	Male patient with a novel likely pathogenic variant in TFAP2B causing Char syndrome
	18.03.2022 12:00–12:02	P-ClinG-060	Two sisters with a novel homozygous pathogenic variant in PSAP causing metachromatic leukodystrophy
	18.03.2022 12:06–12:08	P-ClinG-066	Novel OTUD5 variant detected in a patient with multiple congenital anomalies-neurodevelopmental syndrome and suggested in a fetus in the same family
	18.03.2022 12:12–12:14	P-ClinG-072	SCN1A-associated arthrogryposis multiplex cogenita – two new patients