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MP

Melissa Parisi

Medical Genetics / Clinical Genetics (M.D.)

Credentials: ·

Research

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Human Molecular Genetics · 1999 · 453 citations
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Nature Genetics · 2006 · 445 citations
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Nature Genetics · 2007 · 258 citations

Ian Glass
23 papers
Daniel Doherty
17 papers
Meral Gunay-Aygun
12 papers
William Gahl
10 papers
Raj Kapur
6 papers
FH
Friedhelm Hildebrandt
5 papers
William Dobyns
5 papers
AM
Andrew Mulberg
4 papers
Dennis Shaw
4 papers
TH
Theo Heller
4 papers
Virginia Sybert
4 papers
Adam Hartman
3 papers