Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4Antje Brockschmidt, Ruthild G. Weber, Stefanie Birnbaum et al.|Human Molecular Genetics|2007Cited by 173
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegiaAlma Osmanovic, Ruthild G. Weber|Journal of Neurology|2020Cited by 29
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial originAlisa Förster, Ruthild G. Weber|Acta Neuropathologica|2021Cited by 15
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamicsAlma Osmanovic, Ruthild G. Weber|Journal of Neurology|2022Cited by 9
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2Anne Christians, Ruthild G. Weber|Human Genetics|2022Cited by 9