Browsing by Author "Fatih, Jawid M."

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Marafi, Dana; Mitani, Tadahiro; Işıkay, Şedat; Hertecant, Jozef L.; Almannai, Mohammed; Manickam, Kandamurugu; Abou-Jamra, Rami; El-Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill Anne; Jhangiani, Shalini N.; Boerwinkle, Eric; Akdemir, Zeynep Coban; Erdin, Serkan; Hunter, Jill Vanessa; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R. (Wiley-Blackwell, 1 May 2020)

Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled ...
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Isikay, Sedat; Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M. (CELL PRESS, 2019-07-03)

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely ...