Mohammadreza Dehghani

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

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky et al. · Neurology · 2018 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh J. McMillan, Aida Telegrafi, Amanda Singleton et al. · Orphanet Journal of Rare Diseases · 2018 · 45 citations · Full text

Medicine, Molecular Genetics, Neurology +14

Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity

Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Nafi Dilaver et al. · European Journal of Medical Genetics · 2018 · 21 citations

Medicine, Endocrinology, Nutritional Sciences +15

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Holger Hengel, Shabab B. Hannan, Sarah Dyack et al. · The American Journal of Human Genetics · 2021 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14