Concepedia
Statistics
Publications
7
Citations
403
H-Index
Active since
2009
Affiliations
Institute of Human Genetics(Current)
Polish Academy of Sciences
Hospital Metropolitano
Poznan University of Medical Sciences
Washington State University Spokane
Jose A. Pitarque is an author at Institute of Human Genetics specializing in human genetics, genetics, and molecular genetics.
Publications per year
2009–2016
Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32
Marzena Gajęcka, Uppala Radhakrishna, Daniel Winters et al. · Investigative Ophthalmology & Visual Science · 2009 · 114 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
Marta Czugala, Justyna A. Karolak, Dorota Nowak et al. · European Journal of Human Genetics · 2011 · 82 citations
Life Sciences, Genetics, Molecular Genetics +8
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio et al. · American Journal of Medical Genetics Part A · 2011 · 48 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Substitution at<i>IL1RN</i>and Deletion at<i>SLC4A11</i>Segregating with Phenotype in Familial Keratoconus
Dorota Nowak, Justyna A. Karolak, Joanna Kubiak et al. · Investigative Ophthalmology & Visual Science · 2013 · 47 citations
Medicine, Genetics, Molecular Genetics +12
Variant c.2262A>C in<i>DOCK9</i>Leads to Exon Skipping in Keratoconus Family
Justyna A. Karolak, Małgorzata Rydzanicz, Barbara Ginter-Matuszewska et al. · Investigative Ophthalmology & Visual Science · 2015 · 43 citations
Medicine, Genetics, Molecular Genetics +15
1–5 of 7