Dr. Susan Hayflick
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I've won the following awards
Rare Disease Research Hall of Fame, Rare Disease Research Hall of Fame
Top Doctors, Portland Monthly Magazine
Dean's Award, OHSU School of Medicine Alumni Association
Discovery Award, Medical Research Foundation of Oregon
I've published
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA.
Am. J. Hum. Genet., Dec;91(6):1144-9 (2012)
Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome.
J. Invest. Dermatol., Oct (2012)
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.
Neurosci. Lett., Aug;523(1):35-8 (2012)
Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.
Neurobiol. Dis., Jun;46(3):607-24 (2012)
Microenvironmental regulation by fibrillin-1.
PLoS Genet., Jan;8(1):e1002425 (2012)
As iron goes, so goes disease?
Haematologica., Nov;96(11):1571-2 (2011)
Fatty Acid Hydroxylase-Associated Neurodegeneration
GeneReviewsâ„¢. (1993)
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
Brain., Apr;134(Pt 4):947-58 (2011)
Genetics of neurodegeneration with brain iron accumulation.
Curr Neurol Neurosci Rep., Jun;11(3):254-61 (2011)
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Ann. Neurol., Nov;68(5):611-8 (2010)
Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse.
Mol. Genet. Metab., 101(2-3):292-5 (2010 Oct-Nov)
Characterization of the human PANK2 promoter.
Gene., Oct;465(1-2):53-60 (2010)
PLA2G6-Associated Neurodegeneration
GeneReviewsâ„¢. (1993)
Pantothenate Kinase-Associated Neurodegeneration
GeneReviewsâ„¢. (1993)
Dystonia-parkinsonism disease gene discovery: expect surprises.
Ann. Neurol., Jan;65(1):2-3 (2009)
Clinical and genetic delineation of neurodegeneration with brain iron accumulation.
J. Med. Genet., Feb;46(2):73-80 (2009)
Neurodegeneration associated with genetic defects in phospholipase A(2).
Neurology., Oct;71(18):1402-9 (2008)
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.
Neurology., Apr;70(18):1614-9 (2008)
Mutations in PLA2G6 and the riddle of Schindler disease.
J. Med. Genet., Jan;44(1):e64 (2007)
Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).
Hum. Genet., Jul;119(6):679 (2006)