Umut Altunoğlu

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 280 citations · Full text

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili et al. · The American Journal of Human Genetics · 2013 · 277 citations · Full text

Bone Disease, Bone Fragility, Bone Morphogenic Protein +4

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 190 citations

Signal Transduction, Molecular Physiology, Developmental Biology +6

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text