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MICHAEL DORSCHNER, PH.D.
PH.D.
Clinical Molecular Genetics Physician
NPI: 1447581145Individual
Specialties, Licenses & Credentials
Medical Genetics — Clinical Molecular Genetics
Code: 207SG0203X
DRN 00000066(CA)
Research & Publications (18)
High-throughput localization of functional elements by quantitative chromatin profiling.
PMID 15782197·Nat Methods·2004
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
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
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1959 NE PACIFIC ST, HSC, H-466
SEATTLE, WA 98195 - Phone
- (206) 310-5381
Quick Facts
- NPI
- 1447581145
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 18
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