Concepedia
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Publications
7
Citations
1.6K
H-Index
Active since
2008
Affiliations
University of California San Diego(Current)
Howard Hughes Medical Institute
Casa Sollievo della Sofferenza
University of Messina
Hôpital Necker-Enfants Malades
Dominika Swistun is an author at University of California San Diego specializing in life sciences, genetics, and human genetics.
Publications per year
2008–2010
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 412 citations · Full text
Life Sciences, Genetics, Molecular Biology +12
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 399 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 311 citations · Full text
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations
Life Sciences, Genetics, Molecular Genetics +8
Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli et al. · Human Mutation · 2010 · 90 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
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