Nurten Akarsu

Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, Simon J. H. Heaney, Marijke J. van Baren et al. · Proceedings of the National Academy of Sciences · 2002 · 457 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, Nurten Akarsu, Ihuoma Alozie et al. · The American Journal of Human Genetics · 1998 · 392 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 319 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Hans van Bokhoven, Jacopo Celli, Hülya Kayserili et al. · Nature Genetics · 2000 · 270 citations

Life Sciences, Genetics, Molecular Genetics +7

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai‐Man Chan et al. · Nature Genetics · 2003 · 262 citations

Medicine, Genetics, Molecular Genetics +14