Ercan-Şençiçek, Adife Gülhan

Top Publications

Top Publications Authored or Co-Authored by "Ercan-Şençiçek, Adife Gülhan"

• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

  Science, Volume 338, No. 6105, Year 2012, Citations 272
• Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

  Molecular Psychiatry, Volume 22, No. 4, Year 2017, Citations 184
• De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

  Cell Reports, Volume 9, No. 1, Year 2014, Citations 151
• Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

  American Journal of Human Genetics, Volume 99, No. 2, Year 2016, Citations 71
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69