Mohammad Doosti

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh, Kerstin Becker, He Huang et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Biallelic Mutations, Genetic Disorder, Encoding Adp-ribosylhydrolase 3 +5

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 · 68 citations · Full text

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 66 citations · Full text

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Carola Hedberg‐Oldfors, Alexandra Abramsson, Daniel P. S. Osborn et al. · Human Molecular Genetics · 2019 · 54 citations · Full text