Shalev, Stavit

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 350

Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1

Bose, H. S., Sato, S., Aisenberg, J., Shalev, S. A., Matsuo, N., & Miller, W. L. (2000) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 131

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

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Peled, A., Sarig, O., Samuelov, L., Bertolini, M., Ziv, L., Weissglas-Volkov, D., Eskin-Schwartz, M., Adase, C. A., Malchin, N., Bochner, R., et al. (2016) · PLOS Genetics

dental development and anomaliesHair Growth and Disorders

Cited by 55

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

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

Felipe-Medina, N., Caburet, S., Sánchez-Sáez, F., Condezo, Y. B., de Rooij, D. G., Gómez-H, L., Garcia-Valiente, R., Todeschini, A. L., Duque, P., Sánchez-Martin, M. A., et al. (2020) · eLife

Reproductive Biology and FertilityDNA Repair Mechanisms

Cited by 45