Kremer, Hannie P.H.

Top Publications

Top Publications Authored or Co-Authored by "Kremer, Hannie P.H."

• CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness

  American Journal of Human Genetics, Volume 71, No. 2, Year 2002, Citations 213
• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications, Volume 7, Article 11491, Year 2016, Citations 201
• Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

  Nature Genetics, Volume 40, No. 11, Year 2008, Citations 74
• ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

  Genetics in Medicine, Volume 21, No. 10, Year 2019, Citations 70
• Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 65