PhillipFChanceMD

Clinical Genetics, Clinical Molecular Genetics

Physician

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PubMed

201 citations
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O'Roak, Dana M. Knutzen
Journal of Medical Genetics. 2015-06-19
37 citations
The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.
Majeed Al-Mateen, Alexa Kanwit Craig, Phillip F. Chance
Journal of Child Neurology. 2014-03-01
28 citations
Non-recurrent SEPT9 duplications cause Hereditary Neuralgic Amyotrophy
Angela M. B. Collie, Megan L. Landsverk, Elizabeth K. Ruzzo, Heather C Mefford, Karen Buysse
Journal of Medical Genetics. 2010-09-01

Core--GeneticsEunice Kennedy Shriver National Institute Of Child Health &Human Development2004–2008
Molecular Basis Of Hereditary Neuralgic AmyotrophyNational Institute Of Neurological Disorders And Stroke1998–2007
Identification And Characterization Of The ALS4 GeneNational Institute Of Neurological Disorders And Stroke2002–2006
Genetics Of Juvenile Amyotrophic Lateral Sclerosis (JALS)National Institute Of Neurological Disorders And Stroke1997–2001
Genetic Analysis In Hereditary NeuropathyNational Institute Of Neurological Disorders And Stroke1993–1996
Genetic Analysis Of Charcot-Marie-Tooth DiseaseNational Institute Of Neurological Disorders And Stroke1989–1992
Genetic Analysis Of Charcot-Marie-Tooth DiseaseNational Institute Of Neurological Disorders And Stroke1986–1987