Ginat Narkis

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Shareef Khateeb, Hagit Flusser, Rivka Ofir et al. · The American Journal of Human Genetics · 2006 · 192 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Orly Agamy, Bruria Ben Zeev, Dorit Lev et al. · The American Journal of Human Genetics · 2010 · 147 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Genetic Disorder +6

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

Ortal Barel, Zamir Shorer, Hagit Flusser et al. · The American Journal of Human Genetics · 2008 · 134 citations · Full text

Protein Quality Control, Mendelian Disorder, Mitochondrial Function +10

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

Shikma Mordechai, Libe Gradstein, Annika Pasanen et al. · The American Journal of Human Genetics · 2011 · 111 citations · Full text

Biology, High Myopia, Genetic Disorder +5

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway

Ginat Narkis, Rivka Ofir, Daniella Landau et al. · The American Journal of Human Genetics · 2007 · 108 citations · Full text

Disease Mechanism, Genetic Disorder, Genetics +9