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MAGIE DORSCHNER, PHARMD
PHARMD
Pharmacist Clinician (PhC)/ Clinical Pharmacy Specialist
NPI: 1730604042Individual
Specialties, Licenses & Credentials
Pharmacist Clinician (PhC)/ Clinical Pharmacy SpecialistPrimary
Pharmacist — Pharmacist Clinician (PhC)/ Clinical Pharmacy Specialist
Code: 1835P0018X
PH237508(MA)
Research & Publications (18)
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 19574260·J Med Genet·2010
5-case
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells.
PMID 19055709·Genome Biol·2008
7-preclinical
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
PMID 18950740·Am J Hum Genet·2008
8-other
Mapping and sequencing of structural variation from eight human genomes.
PMID 18451855·Nature·2008
4-observational
Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells.
PMID 18283123·Genes Dev·2008
7-preclinical
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
PMID 17571346·Nature·2007
8-other
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma.
PMID 17546033·Nat Immunol·2007
7-preclinical
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays.
PMID 16791208·Nat Methods·2006
4-observational
High-throughput localization of functional elements by quantitative chromatin profiling.
PMID 15782197·Nat Methods·2004
4-observational
Discovery of functional noncoding elements by digital analysis of chromatin structure.
PMID 15550541·Proc Natl Acad Sci U S A·2004
8-other
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion.
PMID 15236313·Genes Chromosomes Cancer·2004
8-other
Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries.
PMID 15070753·Proc Natl Acad Sci U S A·2004
8-other
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
PMID 12696059·Genes Chromosomes Cancer·2003
4-observational
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1).
PMID 12393445·Blood·2002
4-observational
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
PMID 11986402·J Mol Diagn·2002
8-other
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
PMID 10587576·Hum Mol Genet·2000
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 75 FRANCIS ST
BOSTON, MA 02115 - Phone
- (617) 732-6040
Quick Facts
- NPI
- 1730604042
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 18
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