Umut Altunoğlu
Koç University(TR)
Publications by Year
Research Areas
Connective tissue disorders research, Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Genomics and Rare Diseases, Sexual Differentiation and Disorders
Most-Cited Works
- → Mutations in WNT1 Cause Different Forms of Bone Fragility(2013)281 cited
- → CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration(2014)280 cited
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6(2018)193 cited
- → Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2(2016)188 cited
- → Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing(2017)100 cited
- → De novo mutations in PLXND1 and REV3L cause Möbius syndrome(2015)99 cited
- → Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey(2016)97 cited
- → Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome(2017)83 cited
- → Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies(2017)70 cited