Center for Human Genetics

Top Publications

Top Publications Authored or Co-Authored in "Center for Human Genetics"

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

  Proceedings of the National Academy of Sciences of the United States of America, Volume 111, No. 14, Year 2014, Citations 84
• The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 12, Year 2014, Citations 76
• The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

  British Journal of Ophthalmology, Volume 100, No. 6, Year 2016, Citations 25