Ivailo Tournev

The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

Lev A. Zhivotovsky, Peter A. Underhill, Cengiz Cinnioğlu et al. · The American Journal of Human Genetics · 2004 · 398 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +12

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 325 citations · Full text

Medicine, Genetics, Ophthalmology +12

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva et al. · The American Journal of Human Genetics · 2004 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Raymonda Varon, Rebecca Gooding, Christina Steglich et al. · Nature Genetics · 2003 · 144 citations

Life Sciences, Genetics, Molecular Biology +16

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Pérez-Lezaun, Dora Angelicheva et al. · The American Journal of Human Genetics · 1999 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7