Jennifer L. Silhavy
Illumina (United States)(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Fetal and Pediatric Neurological Disorders, Cancer Genomics and Diagnostics, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly(2012)691 cited
- → Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders(2014)537 cited
- → Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies(2009)409 cited
- → Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome(2006)401 cited
- → Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome(2008)395 cited
- → Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy(2012)310 cited
- → SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder(2010)307 cited
- → Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria(2004)290 cited
- → Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes(2010)282 cited
- → CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration(2014)280 cited