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ELIZABETH ROHLFS, PHD

PHD

Clinical Molecular Genetics Physician

NPI: 1538352240Individual

Specialties, Licenses & Credentials

Clinical Molecular Genetics PhysicianPrimary

Medical Genetics — Clinical Molecular Genetics

Code: 207SG0203X

99130(MA)

Research & Publications (14)

Development of genomic reference materials for cystic fibrosis genetic testing.
PMID 19359498·J Mol Diagn·2009
8-other
Differences in SMN1 allele frequencies among ethnic groups within North America.
PMID 19625283·J Med Genet·2009
8-other
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
PMID 18310361·Obstet Gynecol·2008
8-other
Consensus characterization of 16 FMR1 reference materials: a consortium study.
PMID 18165276·J Mol Diagn·2008
8-other
Development of genomic reference materials for Huntington disease genetic testing.
PMID 18073586·Genet Med·2007
8-other
Genetically characterized positive control cell lines derived from residual clinical blood samples.
PMID 16166172·Clin Chem·2005
4-observational
Developing a sustainable process to provide quality control materials for genetic testing.
PMID 16247292·Genet Med·2005
6-review
Simultaneous detection of multiple point mutations using allele-specific oligonucleotides.
PMID 18428368·Curr Protoc Hum Genet·2004
8-other
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.
PMID 12794695·Am J Med Genet A·2003
8-other
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer.
PMID 12529348·J Natl Cancer Inst·2003
8-other
In-frame deletions of BRCA1 may define critical functional domains.
PMID 11129340·Hum Genet·2000
8-other
Tissue gene expression analysis using arrayed normalized cDNA libraries.
PMID 10958641·Genome Res·2000
7-preclinical
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
PMID 10862036·Genes Chromosomes Cancer·2000
8-other
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.
PMID 10677308·Am J Hum Genet·2000
4-observational

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
3400 COMPUTER DR, GENZYME GENETICS MOLECULAR DIAGNOSTIC LABORATORY
WESTBOROUGH, MA 01581

Location

Practice Location

3400 COMPUTER DR, WESTBOROUGH, MA
(508) 389-5569

Quick Facts

NPI
1538352240
Entity Type
Individual
Gender
Female
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
14

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