GfH 2022

15:00–15:02

P-MonoG-145

Minigene splice assay and Luciferase assay for functional analysis of a potential splice site variant
Angela Borst (Würzburg/DE)
Redezeit: 2 min

15:02–15:04

P-MonoG-147

Functional characterization of a JAG1 promoter variant in a patient with clinically observed Alagille Syndrome
Amelie Stalke (Hannover/DE), Nicole Buhl (Hannover/DE)
Redezeit: 2 min

15:04–15:06

P-MonoG-149

Functional analyses of pathogenic variants in SNRPE associated with the rare hair loss disorder hypotrichosis simplex
Nicole Cesarato (Bonn/DE)
Redezeit: 2 min

15:06–15:08

P-MonoG-151

Monoallelic and biallelic variants in RELN underlie a graded series of neurodevelopmental disorder
Philine Dinkel (Dresden/DE)
Redezeit: 2 min

15:08–15:10

P-MonoG-153

CDKL5 Deficiency Disorder develops in female mice during vulnerable time windows
Verena Engelhardt (Mainz/DE)
Redezeit: 2 min

15:10–15:12

P-MonoG-155

Deciphering MALSU1 in a consanguineous family with mitochondrial cardiomyopathy
Laura Holthöfer (Mainz/DE), Mareike Selig (Mainz/DE)
Redezeit: 2 min

15:12–15:14

P-MonoG-157

Transcriptomes of MPO-deficient psoriasis patients reveals expansion of CD4+ cytotoxic T cells and an involvement of the complement system
Ulrike Hüffmeier (Erlangen/DE)
Redezeit: 2 min

15:14–15:16

P-MonoG-159

Diagnosing rare disorders in low and middle income countries (LMICs) using next-generation sequencing and automated phenotyping
Alexej Knaus (Bonn/DE)
Redezeit: 2 min

15:16–15:18

P-MonoG-161

Serological protein profiles in systemic auto-inflammatory diseases
Julie Krainer (Wien/AT)
Redezeit: 2 min

15:18–15:20

P-MonoG-165

Aberrant cell-death response switch in a novel syndrome characterized by intrauterine multisystem anomalies and early demise
Ivana Lessel (Hamburg/DE)
Redezeit: 2 min

15:20–15:22

P-MonoG-167

Novel variants broaden the mutational spectrum of Hereditary Sensory and Autonomic Neuropathy disorders
Annette Lischka (Aachen/DE)
Redezeit: 2 min

15:22–15:24

P-MonoG-169

VPS13A disease shows variable chorein expression due to distinctive VPS13A mutations as observed in the largest cohort of 106 international patients
Gabriel Miltenberger-Miltenyi (Munich/DE)
Redezeit: 2 min

15:24–15:26

P-MonoG-171

Detection of a Structural Variant with Short Read Whole Genome Sequencing in a Young Woman with Recessive Limb Girdle Muscular Dystrophy
Natalie Pluta (Würzburg/DE), Ann-Kathrin Zaum (Würzburg/DE)
Redezeit: 2 min

15:26–15:28

P-MonoG-173

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Christian Schlein (Hamburg/DE)
Redezeit: 2 min

15:28–15:30

P-MonoG-175

Genetic Polymorphisms and their impact on the Age at Onset in Spinocerebellar Ataxia Type 3
Thorsten Schmidt (Tübingen/DE)
Redezeit: 2 min

15:30–15:32

P-MonoG-177

Homozygous variant in SERPING1 causes hereditary angioedema in a consanguineous Brazilian family
Luana Sella Motta Maia (Basel Stadt/CH)
Redezeit: 2 min

15:32–15:34

P-MonoG-179

KIF12 variants and disturbed hepatocyte polarity in children with a phenotypic spectrum of cholestatic liver disease
Amelie Stalke (Hannover/DE)
Redezeit: 2 min

15:34–15:36

P-MonoG-181

A homozygous STING1 gene variant causes STING-associated vasculopathy with onset in infancy (SAVI)
Rensheng Wan (Hannover/DE)
Redezeit: 2 min

15:36–15:38

P-MonoG-183

Comprehensive characterization of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster in patients with Blue Cone Monochromacy
Bernd Wissinger (Tübingen/DE)
Redezeit: 2 min

Session

17.03.2022 15:00–15:45

17.03.2022
15:00–15:45