Milen Velinov

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Mark Consugar, Wai C. Wong, Patrick A. Lundquist et al. · Kidney International · 2008 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The gene for achondroplasia maps to the telomeric region of chromosome 4p

Milen Velinov, Susan A. Slaugenhaupt, Ivaylo Stoilov et al. · Nature Genetics · 1994 · 117 citations

Life Sciences, Genetics, Molecular Genetics +9

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge et al. · Genetics in Medicine · 2016 · 99 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

Michael X. Henderson, Gregory S. Wirak, Yong-quan Zhang et al. · Acta Neuropathologica · 2015 · 91 citations · Full text

Life Sciences, Genetics, Pathology +11

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez et al. · PLoS ONE · 2012 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17