Ziva Ben‐Neriah

Mutant Cohesin in Premature Ovarian Failure

Sandrine Caburet, Valerie A. Arboleda, Elena Llano et al. · New England Journal of Medicine · 2014 · 322 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Michal Sagi, Ziva Ben‐Neriah, Tieling Wang et al. · Human Mutation · 2001 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

Ruben Attali, Nasim Warwar, Alain Israël et al. · Human Molecular Genetics · 2009 · 172 citations

Life Sciences, Genetics, Molecular Genetics +17

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas‐Rothschild, Marlène Rio et al. · The American Journal of Human Genetics · 2005 · 158 citations · Full text

Medicine, Neurology, Neuroscience +14

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott et al. · Human Molecular Genetics · 2012 · 139 citations · Full text

Medicine, Genetics, Molecular Genetics +16