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Elizabeth M. Rohlfs
Observed names:
E M Rohlfs,
E ROHLFS,
E. M. Rohlfs,
ELIZABETH M. ROHLFS,
Elizabeth M Rohlfs,
Elizabeth Rohlfs
show all 6
Observed institutions:
University of North Carolina at Chapel Hill,
Centers for Disease Control and Prevention,
Duke University,
Genome Canada,
Massachusetts General Hospital,
Duke Medical Center,
Génome Québec,
CenGen (Pty) Ltd,
Génome et Transcriptome - Plateforme Génomique
show all 9
OpenAlex ID:
A5030901227
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
2011
·
Elaine A Sugarman
, Narasimhan Nagan
, et al.
·
European Journal of Human Genetics
·
658
PDF
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
2004
·
Michael S. Watson
, Garry R. Cutting
, et al.
·
Genetics in Medicine
·
471
Impaired expression and functional activity of the beta 3- and beta 1- adrenergic receptors in adipose tissue of congenitally obese (C57BL/6J ob/ob) mice
1994
·
S Collins
, K W Daniel
, et al.
·
Molecular Endocrinology
·
221
Differences in SMN1 allele frequencies among ethnic groups within North America
2009
·
B C Hendrickson
, C Donohoe
, et al.
·
Journal of Medical Genetics
·
172
PDF
Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer
2003
·
N. J. Shaheen
, L. M. Silverman
, et al.
·
JNCI Journal of the National Cancer Institute
·
131
The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
2002
·
Elizabeth M. Rohlfs
, Zhaoqing Zhou
, et al.
·
Genetics in Medicine
·
85
PDF
Regulation of the Uncoupling Protein Gene (Ucp) by β1, β2, and β3-Adrenergic Receptor Subtypes in Immortalized Brown Adipose Cell Lines
1995
·
Elizabeth M. Rohlfs
, Kiefer W. Daniel
, et al.
·
Journal of Biological Chemistry
·
85
CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations
2004
·
Elaine A. Sugarman
, Elizabeth M. Rohlfs
, et al.
·
Genetics in Medicine
·
82
AnAlu-mediated 7.1 kb deletion ofBRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10
2000
·
Elizabeth M. Rohlfs
, Nadine Puget
, et al.
·
Genes Chromosomes and Cancer
·
80
Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population
2011
·
Elizabeth M Rohlfs
, Zhaoqing Zhou
, et al.
·
Clinical Chemistry
·
76
Prevalence and Instability of Fragile X Alleles
2008
·
Amy Cronister
, Jennifer Teicher
, et al.
·
Obstetrics and Gynecology
·
73
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis
1997
·
Elizabeth M Rohlfs
, William G Learning
, et al.
·
Clinical Chemistry
·
72
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina
2003
·
Lorna S. Timmreck
, Mark R. Gray
, et al.
·
American Journal of Medical Genetics Part A
·
65
Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing
2005
·
Bin Chen
, Catherine D. O'Connell
, et al.
·
Genetics in Medicine
·
58
Glycerophosphocholine and Phosphocholine Are the Major Choline Metabolites in Rat Milk
1993
·
Elizabeth M Rohlfs
, Sanford C Garner
, et al.
·
Journal of Nutrition
·
53
Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population
2000
·
Dana C. Crawford
, Charles E. Schwartz
, et al.
·
The American Journal of Human Genetics
·
50
Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study
2007
·
Jean Amos Wilson
, Victoria M. Pratt
, et al.
·
Journal of Molecular Diagnostics
·
46
PDF
Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing
2009
·
Victoria M. Pratt
, Michele Caggana
, et al.
·
Journal of Molecular Diagnostics
·
38
PDF
Is the Hemochromatosis Gene a Modifier Locus for Cystic Fibrosis?
1998
·
ELIZABETH M. ROHLFS
, NICHOLAS J. SHAHEEN
, et al.
·
Genetic Testing
·
30
In-frame deletions of BRCA1 may define critical functional domains
2000
·
Elizabeth Rohlfs
, Christine Chung
, et al.
·
Human Genetics
·
28
Development of genomic reference materials for Huntington disease genetic testing
2007
·
Lisa Kalman
, Monique A. Johnson
, et al.
·
Genetics in Medicine
·
23
Lipid synthesis and secretion by primary cultures of rat mammary epithelial cells
1993
·
Elizabeth M. Rohlfs
, Dexter S. Louie
, et al.
·
Journal of Cellular Physiology
·
18
PDF
HFE Genotyping Using Multiplex Allele-Specific Polymerase Chain Reaction and Capillary Electrophoresis
1999
·
Ira M. Lubin
, N. Alice Yamada
, et al.
·
Archives of Pathology & Laboratory Medicine
·
12
Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent
2009
·
Lisa Kalman
, Jean Amos Wilson
, et al.
·
Journal of Molecular Diagnostics
·
11
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
2005
·
Susan H Bernacki
, Jeanne C Beck
, et al.
·
Clinical Chemistry
·
11
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Works count:
32
Citation count:
2,663
H-index:
21
I10-index:
25
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