ElizabethMaryRohlfsMD

Medical Genetics • Westborough, MA

Clinical Molecular Genetics

Physician

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Office
3400 Computer Dr
Genzyme Genetics Molecular Diagnostic Laboratory
Westborough, MA 01581
Phone+1 508-389-5569

Fax+1 508-389-5548
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Summary

Dr. Elizabeth Rohlfs, MD is a board certified medical geneticist in Westborough, Massachusetts.

Certifications & Licensure

American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics

Publications & Presentations

PubMed

401 citations
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, Viatcheslav R. Akmaev, Zhaoqing Zhou, Elizabeth M. Rohlfs, Kerry Flynn, Brant C. Hendrickson, Thomas Scholl, Deborah Alex...> ;European Journal of Human Genetics. 2012 Jan 1
55 citations
Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population
Elizabeth M. Rohlfs, Zhaoqing Zhou, Ruth A. Heim, Narasimhan Nagan, Lynne S Rosenblum, Kerry Flynn, Thomas Scholl, Viatcheslav R. Akmaev, D. Alexa Sirko-Osadsa, Bernic...> ;Clinical Chemistry. 2011 Jun 1
9 citations
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
Lisa V. Kalman, Jean Amos Wilson, Arlene Buller, John Dixon, Lisa Edelmann, Louis Geller, William Edward Highsmith, Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M....> ;The Journal of Molecular Diagnostics. 2009 Nov 1
117 citations
Differences in SMN1 allele frequencies among ethnic groups within North America
Brant C. Hendrickson, Colin Donohoe, Viatcheslav R. Akmaev, Elaine A Sugarman, Paul Labrousse, Leonid Boguslavskiy, Kerry Flynn, Elizabeth M. Rohlfs, Andrew M. Walker,...> ;Journal of Medical Genetics. 2009 Sep 1
26 citations
Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing
Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene Buller, Lisa DiAntonio, W. Edward Highsmith, Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M....> ;The Journal of Molecular Diagnostics. 2009 May 1
56 citations
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
Amy Cronister, Jennifer Teicher, Elizabeth M. Rohlfs, Alan E. Donnenfeld, Stephanie Hallam> ;Obstetrics and Gynecology. 2008 Mar 1
30 citations
Consensus characterization of 16 FMR1 reference materials: A consortium study
Jean Amos Wilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, W. Edward Highsmith, Jeanne C. Beck, Scott J. Bridgeman, Ebony M. Courtney, Lidia Epp, A...> ;The Journal of Molecular Diagnostics. 2008 Jan 1
16 citations
Development of genomic reference materials for Huntington disease genetic testing.
Lisa V. Kalman, Monique A. Johnson, Jeanne C. Beck, Elizabeth Berry-Kravis, Arlene Buller, Brett Casey, Gerald L. Feldman, James H. Handsfield, John P. Jakupciak, Sama...> ;Genetics in Medicine. 2007 Oct 1
6 citations
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Susan H. Bernacki, Jeanne C. Beck, Ana K. Stankovic, Laurina O. Williams, Jean A. Amos, Karen Snow-Bailey, Daniel H. Farkas, Michael J. Friez, Feras M. Hantash, Karla ...> ;Clinical Chemistry. 2005 Nov 1
41 citations
Developing a sustainable process to provide quality control materials for genetic testing.
Bin Chen, Catherine D. O'Connell, D. Joe Boone, Jean A. Amos, Jeanne C. Beck, Maria M. Chan, Daniel H. Farkas, Roger V. Lebo, Carolyn Sue Richards, Benjamin B. Roa, La...> ;Genetics in Medicine. 2005 Oct 1
315 citations
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Michael S. Watson, Garry R. Cutting, Robert J. Desnick, Deborah A. Driscoll, Katherine W. Klinger, Michael T. Mennuti, Glenn E. Palomaki, Bradley W. Popovich, Victoria...> ;Genetics in Medicine. 2004 Sep 1
3 citations
Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.
Elizabeth M. Rohlfs, Vivian Weinblatt, Karen J Treat, Elaine A Sugarman> ;Genetics in Medicine. 2004 Sep 1
3 citations
Simultaneous Detection of Multiple Point Mutations Using Allele‐Specific Oligonucleotides
Nichole M. Napolitano, Elizabeth M. Rohlfs, Ruth A. Heim> ;Current Protocols in Human Genetics. 2004 Sep 1
60 citations
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
Elaine A Sugarman, Elizabeth M. Rohlfs, Lawrence M. Silverman, Bernice A Allitto> ;Genetics in Medicine. 2004 Sep 1
45 citations
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.
Lorna S. Timmreck, Mark R. Gray, Barbara Handelin, Bernice Allito, Elizabeth M. Rohlfs, Ann J. Davis, Gita P. Gidwani, Richard H. Reindollar> ;American Journal of Medical Genetics. Part A. 2003 Jul 1
101 citations
Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer
Nicholas J. Shaheen, Lawrence M. Silverman, Temitope O. Keku, Laura B. Lawrence, Elizabeth M. Rohlfs, Christopher F. Martin, Joseph A. Galanko, Robert S. Sandler> ;Journal of the National Cancer Institute. 2003 Jan 15
63 citations
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
Elizabeth M. Rohlfs, Zhaoqing Zhou, Elaine A Sugarman, Ruth A. Heim, Rhonda G. Pace, Michael R. Knowles, Lawrence M. Silverman, Bernice A Allitto> ;Genetics in Medicine. 2002 Sep 1
Tissue gene expression analysis using arrayed normalized cDNA libraries.
Eickhoff, H., Schuchhardt, J., Ivanov, I., Meier-Ewert, S., O'Brien, J., Malik, A., Tandon, N., Wolski, E. W., Rohlfs, E., Nyarsik, L., Reinhardt, R., Nietfeld, W., Le...> ;Genome Res. 2000 Aug
63 citations
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.
Elizabeth M. Rohlfs, Nadine Puget, Mark L. Graham, Barbara L. Weber, Judy Garber, Cécile Skrzynia, Joseph L. Halperin, Gilbert M. Lenoir, Lawrence M. Silverman, Sylvie...> ;Genes, Chromosomes & Cancer. 2000 Jul 1
42 citations
Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population
Dana C. Crawford, Charles E. Schwartz, Kellen L. Meadows, James L. Newman, Lisa Taft, Chris Gunter, W. Ted Brown, N. J. Carpenter, Patricia N. Howard-Peebles, Kristin ...> ;American Journal of Human Genetics. 2000 Feb 1
24 citations
In-frame deletions of BRCA1 may define critical functional domains
Elizabeth M. Rohlfs, Christine H. Chung, Qing Yang, Cécile Skrzynia, Wayne W. Grody, Mark L. Graham, Lawrence M. Silverman> ;Human Genetics. 2000 Jan 1
HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis.
Lubin, I. M., Yamada, N. A., Stansel, R. M., Pace, R. G., Rohlfs, E. M., Silverman, L. M.> ;Arch Pathol Lab Med. 1999 Dec
Depressed expression of adipocyte beta-adrenergic receptors is a common feature of congenital and diet-induced obesity in rodents.
Collins, S., Daniel, K. W., Rohlfs, E. M.> ;Int J Obes Relat Metab Disord. 1999 Jul
22 citations
Is the hemochromatosis gene a modifier locus for cystic fibrosis
Elizabeth M. Rohlfs, Nicholas J. Shaheen, Lawrence M. Silverman> ;Genetic Testing. 1998 Jan 1
63 citations
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis
Elizabeth M. Rohlfs, William G. Learning, Kenneth J. Friedman, Fergus J. Couch, Barbara L. Weber, Lawrence M. Silverman> ;Clinical Chemistry. 1997 Jan 1
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