Rüstem Yilmaz

<scp>ALS</scp> ‐linked <scp>KIF5A ΔExon27</scp> mutant causes neuronal toxicity through gain‐of‐function

Devesh C. Pant, Janani Parameswaran, Lu Rao et al. · EMBO Reports · 2022 · 63 citations · Full text

Neurodegenerative Diseases, Synaptic Plasticity, Molecular Neuroscience +13

Exome sequencing and CRISPR/Cas genome editing identify mutations of <i>ZAK</i> as a cause of limb defects in humans and mice

Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi et al. · Genome Research · 2016 · 60 citations · Full text

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Lina Basel‐Vanagaite, Rüstem Yilmaz, Sha Tang et al. · Human Genetics · 2014 · 38 citations

Mendelian Disorder, Genetic Disorder, Genetics +9

The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

Mateusz C. Ambrozkiewicz, Manuela Schwark, Silvia Ripamonti et al. · Molecular Psychiatry · 2020 · 27 citations

Murine Ortholog, Synaptic Plasticity, Protein Function +8

A recurrent synonymous <i>KAT6B</i> mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

Rüstem Yilmaz, Ana Beleza‐Meireles, Susan Price et al. · American Journal of Medical Genetics Part A · 2015 · 22 citations · Full text