Session

17.03.2022     10:00–11:30

Titel:
Workshop 2
Neurodevelopmental Disorders
Art:
Workshop
Raum:
Room 5+6

17.03.2022
10:00–11:30

Titel:
Workshop 2
Neurodevelopmental Disorders
Art:
Workshop
Raum:
Room 5+6

10:00–10:15
W2-001 De novo variants in the PABP-domain of PABPC1 lead to developmental delay
Meret Wegler (Leipzig/DE)
Redezeit: 15 min

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
Anne Gregor (Bern/CH)
Redezeit: 15 min

10:30–10:45
W2-003 Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
Barbara Vona (Göttingen/DE)
Redezeit: 15 min

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
Joohyun Park (Tübingen/DE)
Redezeit: 15 min

11:00–11:15
W2-005 SKI haploinsufficiency causes a neurodevelopmental disorder
Arne Jahn (Dresden/DE)
Redezeit: 15 min

11:15–11:30
W2-006 Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Gökhan Yigit (Göttingen/DE)
Redezeit: 15 min