D. Swistun

发表

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

C. Truwit, N. Chuang, H. Kayserili, 2011, Neurology.

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

E. Bertini, S. Schurmans, H. Kayserili, 2009, Nature Genetics.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

Trends in Multidrug-Resistant Bacteria and Clostridium difficile in an Integrated Healthcare Network, 2008–2015

J. Burke, E. Stenehjem, R. Mehta, 2016 .

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

Expanding CEP290 mutational spectrum in ciliopathies

E. Bertini, F. Brancati, E. Valente, 2009, American journal of medical genetics. Part A.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

J. Gleeson, M. Zaki, J. Silhavy, 2011, European journal of medical genetics.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation

H. Freeze, R. Wevers, J. Gleeson, 2010 .