László Sztriha

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 289 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 251 citations

Genetic Disorder, Natural Sciences, Genetics +5

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 222 citations · Full text

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Isabelle Thiffault, Nicole I. Wolf, Diane Forget et al. · Nature Communications · 2015 · 176 citations · Full text