Elpeleg, Orly

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Spiegel, R., Saada, A., Flannery, P. J., Burté, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., et al. (2016) · Journal of Medical Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 117

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Dougherty, G. W., Mizuno, K., Nöthe-Menchen, T., Ikawa, Y., Boldt, K., Ta-Shma, A., Aprea, I., Minegishi, K., Pang, Y.-P., Pennekamp, P., et al. (2020) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 88

A human laterality disorder associated with a homozygous WDR16 deletion

Ta-Shma, A., Perles, Z., Yaacov, B., Werner, M., Frumkin, A., Rein, A. J., & Elpeleg, O. (2015) · European Journal of Human Genetics

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

Cited by 70

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., et al. (2016) · European Journal of Paediatric Neurology

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 49

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

Edvardson, S., Murakami, Y., Nguyen, T. T. M., Shahrour, M., St-Denis, A., Shaag, A., Damseh, N., Le Deist, F., Bryceson, Y., Abu-Libdeh, B., et al. (2017) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

Edvardson, S., Kose, S., Jalas, C., Fattal-Valevski, A., Watanabe, A., Ogawa, Y., Mamada, H., Fedick, A. M., Ben-Shachar, S., Treff, N. R., et al. (2016) · Journal of Medical Genetics

Hereditary Neurological DisordersHeat shock proteins research

Cited by 33