RuthAHeimMD

PubMed

• 1 citations
  Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
  N T Leach, D R Wilson Mathews, L S Rosenblum, Z Zhou, H Zhu, R A Heim> ;Genetics in Medicine. 2019 Jul 1
• 16 citations
  The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities
  Jodi D. Hoffman, Jessica J. Park, Nicole Schreiber-Agus, Ruth Kornreich, Alice K. Tanner, Steven Keiles, Kenneth J. Friedman, Ruth A. Heim> ;Prenatal Diagnosis. 2014 Dec 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
• 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
• 17 citations
  High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
  Salmo Raskin, Lilian Pereira, Francisco J.C. Reis, Nelson Rosario, Norberto Ludwig, Lairton Valentim, John A. Phillips, Bernice Allito, Ruth A. Heim, Elaine A Sugarman...> ;Genetic Testing. 2003 Jan 1
• 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
• Improved detection of CFTR mutations in southern California Hispanic CF patients.
  Wong, L.C., Wang, J., Zhang, Y., Hsu, E., Heim, R.A., Bowman, C.M., Woo, M.S.> ;Hum Mutat. 2002 Jan
• Improved detection of CFTR mutations in Southern California Hispanic CF patients.
  Wong, L. J., Wang, J., Zhang, Y. H., Hsu, E., Heim, R. A., Bowman, C. M., Woo, M. S.> ;Hum Mutat. 2001 Oct
• 81 citations
  Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
  Ruth A. Heim, Elaine A Sugarman, Bernice A Allitto> ;Genetics in Medicine. 2001 May 1
• 70 citations
  Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its...
  Kenneth J. Friedman, Ruth A. Heim, Michael R. Knowles, Lawrence M. Silverman> ;Human Mutation. 1997 Jan 1
• 145 citations
  Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
  Ruth A. Heim, Lauren Kam-Morgan, Cameron G. Binnie, David D. Corns, Matthew C. Cayouette, Rosann A. Farber, Arthur S. Aylsworth, Lawrence M. Silverman, Michael C. Luce> ;Human Molecular Genetics. 1995 Jun 1
• 3 citations
  Relatively high prevalence of the CFTR mutations, G85E and 1154insTC
  Kenneth J. Friedman, Michelle L. Blalock, Ruth A. Heim, Lawrence M. Silverman> ;Human Mutation. 1995 Jan 1
• 39 citations
  Screening for truncated NF1 proteins
  Ruth A. Heim, Lawrence M. Silverman, Rosann A. Farber, Lauren Kam-Morgan, Michael C. Luce> ;Nature Genetics. 1994 Jan 1
• 37 citations
  Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome
  Ruth A. Heim, Nicholas J. Lench, Michael Swift> ;Mutation Research. 1992 Dec 1
• Study of 30 DNA markers in three southern African populations.
  Morris, D. J., Heim, R. A., Verga, V., Denter, M., Dunn, D. S., Jenkins, T.> ;Gene Geogr. 1991 Apr 01
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