Horn, Denise

Top Publications

Top Publications Authored or Co-Authored by "Horn, Denise"

• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

  American Journal of Human Genetics, Volume 80, No. 2, Year 2007, Citations 309
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 111
• Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  Journal of Medical Genetics, Volume 49, No. 2, Year 2012, Citations 82
• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69