Area of research
Genetics · Molecular Biology
Research interest
Research focused on Missense mutation and Spinal muscular atrophy, with related work in Genetics, Hypotonia, Library science. Notable publications include 'Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration', 'Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy', and 'Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration'.
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Mutations in <scp><i>HID1</i></scp> Cause Syndromic Infantile Encephalopathy and Hypopituitarism
Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
Ethische und rechtliche Aspekte im Umgang mit genetischen Zufallsbefunden – Herausforderungen und Lösungsansätze
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
A phenotype map for 14q32.3 terminal deletions