KatherineBustinSimsMD
Child Neurology • Boston, MAProfessor, Neurology-Massachusetts General Hospital, Harvard Medical School
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Office
15 Parkman St
Wac 835
Boston, MA 02114Phone+1 617-726-5732Fax+1 617-726-2894
Education & Training
Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolResidency, Neurology, 1982 - 1986
Massachusetts General HospitalResidency, Pediatrics, 1979 - 1981
Columbia University Vagelos College of Physicians and SurgeonsClass of 1979
Certifications & Licensure
MA State Medical License 1980 - 2017- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Open-Label Phase 3 Long-Term Safety Study of Migalastat Start of enrollment: 2011 Oct 14
- North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Start of enrollment: 2010 Dec 01
- Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Start of enrollment: 2012 Aug 01
Publications & Presentations
PubMed
- 431 citationsSequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic BoundariesMichael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang
Cell. 2012-04-27 - 729 citationsExome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski, Peter C. Sapp, Patrick A. Dion
Science. 2015-03-27 - 146 citationsSurvey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.Yo Niida, Anat Stemmer-Rachamimov, Marian L. Logrip, Dagmar Tapon, Ronald Perez
American Journal of Human Genetics. 2001-09-01
Press Mentions
Drug- or Vaccine-Induced Dementias Are NOT Alzheimer’s (But They Are Iatrogenic)February 8th, 2018
Drug-Induced Dementia Isn’t Alzheimer’sFebruary 26th, 2015
MGH Hosts Norrie Disease ConferenceAugust 17th, 2012
Grant Support
- Clinical Trial: Aglu02704: Late-Onset Pompe Disease Treatment StudyNational Center For Research Resources2008
- Aglu02704: Late-Onset Pompe Disease Treatment StudyNational Center For Research Resources2007
- Core--PatientsNational Institute Of Neurological Disorders And Stroke2001–2002
- ND Gene In Retinal Dysplasia And Cell DeathNational Eye Institute1995–1999
- Molecular Genetic Study Of Norrie DiseaseEunice Kennedy Shriver National Institute Of Child Health &Human Development1989–1991
- Molecular Genetic Study Of Chromosome 21 Gene ExpressionEunice Kennedy Shriver National Institute Of Child Health &Human Development1987–1989
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