Philip Harrer

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Sara Reynhout, Sandra Jansen, Dorien Haesen et al. · The American Journal of Human Genetics · 2018 · 59 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Mendelian Disorder +11

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Luca Bartesaghi, Yiqiao Wang, Paula Fontanet et al. · Cell Reports · 2019 · 52 citations · Full text

Recessive <scp><i>NUP54</i></scp> Variants Underlie Early‐Onset Dystonia with Striatal Lesions

Philip Harrer, Audrey Schalk, Masaru Shimura et al. · Annals of Neurology · 2022 · 16 citations · Full text

Dystonia Linked to <scp><i>EIF4A2</i></scp> Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Philip Harrer, Matěj Škorvánek, Volker Kittke et al. · Movement Disorders · 2023 · 13 citations · Full text

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

Michael Zech, Ivana Dzinovic, Matěj Škorvánek et al. · Brain · 2025 · 13 citations · Full text