Nina Ekhilevitch

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato et al. · Journal of Human Genetics · 2017 · 67 citations

Life Sciences, Genetics, Molecular Genetics +10

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato et al. · Human Molecular Genetics · 2018 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu et al. · The American Journal of Human Genetics · 2020 · 52 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

Alina Kurolap, Anja Armbruster, Tova Hershkovitz et al. · The American Journal of Human Genetics · 2016 · 40 citations · Full text

Life Sciences, Neurology, Neuroscience +11