Concepedia
Statistics
Publications
11
Citations
967
H-Index
Active since
2008
Affiliations
University of Washington(Current)
Howard Hughes Medical Institute
University of Michigan
Seattle Children's Hospital
Madigan Army Medical Center
Dana Knutzen is an author at University of Washington specializing in medicine, pregnancy, and prenatal diagnosis.
Top concepts
MedicineGeneticsPregnancyGynecologyNeurogeneticsPublic HealthMaternal HealthPrenatal DiagnosisMolecular NeurosciencePrenatal Genetic Testing
Publications per year
2008–2020
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi et al. · The American Journal of Human Genetics · 2008 · 227 citations · Full text
Molecular Neuroscience, Joubert Syndrome, Medicine +7
Mutations in 3 genes (<i>MKS3</i>, <i>CC2D2A</i> and <i>RPGRIP1L</i>) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D Doherty, Melissa A. Parisi, Laura S. Finn et al. · Journal of Medical Genetics · 2009 · 151 citations · Full text
<i>SEPT9</i> gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
Mark Hannibal, Elizabeth K. Ruzzo, Lauren Miller et al. · Neurology · 2009 · 60 citations · Full text
Non-recurrent <i>SEPT9</i> duplications cause hereditary neuralgic amyotrophy
Angela M. B. Collie, Megan Landsverk, Elizabeth K. Ruzzo et al. · Journal of Medical Genetics · 2009 · 52 citations
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