Marc S Williams

Summary

Affiliation: LDS Hospital
Country: USA

Publications

  1. ncbi request reprint Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies
    Katharine E Brock
    Gundersen Lutheran Medical Foundation, LaCrosse, Wisconsin, USA
    Am J Med Genet A 123:111-21. 2003
  2. ncbi request reprint Pulmonary disease is a component of distal arthrogryposis type 5
    Marc S Williams
    Clinical Genetics Institute Intermountain Health Care, Salt Lake City, UT 84103, USA
    Am J Med Genet A 143:752-6. 2007
  3. ncbi request reprint Health insurance and chronic illness: is anything helping?
    Marc S Williams
    Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, UT 84103, USA
    Am J Med Genet A 143:718-20. 2007
  4. ncbi request reprint Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report
    Marc S Williams
    Clinical Genetics Institute Intermountain Healthcare, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2812-5. 2006
  5. doi request reprint How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling
    David P Taylor
    Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84112 5750, USA
    Genet Med 13:385-91. 2011
  6. doi request reprint Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk
    David P Taylor
    Department of Biomedical Informatics, University of Utah, School of Medicine, Salt Lake City, Utah 84112 5750, USA
    Genet Med 13:737-43. 2011
  7. pmc Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting
    David K Crockett
    University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA
    Genome Med 4:48. 2012
  8. pmc Development and early usage patterns of a consumer-facing family health history tool
    Nathan C Hulse
    Intermountain Healthcare, Salt Lake City, UT, USA
    AMIA Annu Symp Proc 2011:578-87. 2011
  9. pmc Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants
    David K Crockett
    Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    J Am Med Inform Assoc 19:207-11. 2012
  10. doi request reprint Familial clustering of hemangiomas
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA
    Arch Otolaryngol Head Neck Surg 137:757-60. 2011

Detail Information

Publications24

  1. ncbi request reprint Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies
    Katharine E Brock
    Gundersen Lutheran Medical Foundation, LaCrosse, Wisconsin, USA
    Am J Med Genet A 123:111-21. 2003
    ..Limb anomalies are seen more frequently in association with certain CHARGE anomalies, and these associations show gender differences. There is not a common limb anomaly seen in CHARGE syndrome...
  2. ncbi request reprint Pulmonary disease is a component of distal arthrogryposis type 5
    Marc S Williams
    Clinical Genetics Institute Intermountain Health Care, Salt Lake City, UT 84103, USA
    Am J Med Genet A 143:752-6. 2007
    ..All individuals diagnosed with DA5 should be evaluated for chest disease, alveolar hypoventilation, as treatment of chronic hypoxia may delay or reverse pulmonary hypertension...
  3. ncbi request reprint Health insurance and chronic illness: is anything helping?
    Marc S Williams
    Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, UT 84103, USA
    Am J Med Genet A 143:718-20. 2007
  4. ncbi request reprint Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report
    Marc S Williams
    Clinical Genetics Institute Intermountain Healthcare, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2812-5. 2006
  5. doi request reprint How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling
    David P Taylor
    Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84112 5750, USA
    Genet Med 13:385-91. 2011
    ..Using a large, retrospective cohort from the Utah Population Database, we assess how well family history predicts who will acquire colorectal cancer during a 20-year period...
  6. doi request reprint Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk
    David P Taylor
    Department of Biomedical Informatics, University of Utah, School of Medicine, Salt Lake City, Utah 84112 5750, USA
    Genet Med 13:737-43. 2011
    ..To compare colonoscopy screening/surveillance rates by level of risk for colorectal cancer based on age, personal history of adenomatous polyps or colorectal cancer, or family history of colorectal cancer...
  7. pmc Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting
    David K Crockett
    University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA
    Genome Med 4:48. 2012
    ..Data visualization for clinical reporting is also discussed...
  8. pmc Development and early usage patterns of a consumer-facing family health history tool
    Nathan C Hulse
    Intermountain Healthcare, Salt Lake City, UT, USA
    AMIA Annu Symp Proc 2011:578-87. 2011
    ..Data derived from the tool since its release are also compared against family history charting patterns in Intermountain's electronic health records, revealing differences in data availability...
  9. pmc Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants
    David K Crockett
    Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    J Am Med Inform Assoc 19:207-11. 2012
    ..Gene-specific computational prediction models derived from clinically curated gene variant disease datasets often outperform established generalized algorithms for novel and uncertain gene variants...
  10. doi request reprint Familial clustering of hemangiomas
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA
    Arch Otolaryngol Head Neck Surg 137:757-60. 2011
    ..To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas...
  11. ncbi request reprint Rapid ACCE: experience with a rapid and structured approach for evaluating gene-based testing
    James M Gudgeon
    Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah 84103, USA
    Genet Med 9:473-8. 2007
    ..To present the rapid-ACCE model and report our early experience of using the ACCE structure to guide systematic reviews for the rapid evaluation of emerging genetic tests...
  12. pmc Impact of age cutoffs on a lynch syndrome screening program
    James M Gudgeon
    Intermountain Healthcare, Salt Lake City, UT and Geisinger Health System, Danville, PA
    J Oncol Pract 9:175-9. 2013
    ..The project was undertaken to answer questions about implementation of the LS screening program in an integrated health care delivery system...
  13. pmc Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene
    David K Crockett
    Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
    PLoS ONE 6:e18380. 2011
    ..Reliable classification of RET uncertain gene variants will augment current clinical information of RET mutations and assist in improving prediction algorithms as knowledge increases...
  14. ncbi request reprint Lynch syndrome screening implementation: business analysis by a healthcare system
    James M Gudgeon
    Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, UT 84103, USA
    Am J Manag Care 17:e288-300. 2011
    ....
  15. doi request reprint Primary care physicians' experience with family history: an exploratory qualitative study
    Janet L Williams
    Clinical Genetics Institute, 324 10th Avenue, Suite 183, Salt Lake City, UT 84103, USA
    Genet Med 13:21-5. 2011
    ..Family history can guide patient care but is underused. Physician experience with family history has been inadequately characterized. The study's purpose was to assess primary care physicians' experiences with family history...
  16. doi request reprint Inflammatory bowel disease aggregation in Utah kindreds
    Stephen L Guthery
    Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Utah School of Medicine and Primary Children s Medical Center, Salt Lake City, Utah 84113, USA
    Inflamm Bowel Dis 17:823-30. 2011
    ..Kindred-specific genetic variants that cause IBD may be a source of "missing heritability." Given that they have been previously difficult to identify, we sought to identify high-risk IBD kindreds...
  17. doi request reprint Deriving consumer-facing disease concepts for family health histories using multi-source sampling
    Nathan C Hulse
    Intermountain Healthcare, Salt Lake City, UT, USA
    J Biomed Inform 43:716-24. 2010
    ..We expect that these concepts will be useful in providing meaningful data and education resources for patients and providers alike...
  18. pmc Population-based family history-specific risks for colorectal cancer: a constellation approach
    David P Taylor
    Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah
    Gastroenterology 138:877-85. 2010
    ..We report familial relative risk (FRR) in probands with various combinations, or constellations, of affected relatives, extending to third-degree...
  19. ncbi request reprint Speculations on the pathogenesis of CHARGE syndrome
    Marc S Williams
    Department of Pediatrics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin, USA
    Am J Med Genet A 133:318-25. 2005
    ..Given this gene classes' putative role as a general controller of developmental gene expression as well as mesodermal patterning, it would fit the hypothesized mechanisms discussed in the study...
  20. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  21. ncbi request reprint Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    Cheryl Descipio
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 134:3-11. 2005
    ..Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified...
  22. ncbi request reprint Re: "Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally occurring experiment"
    Marc S Williams
    Genet Med 7:514; author reply 514. 2005
  23. ncbi request reprint Analysis of 88 adult patients referred for genetics evaluation
    Stephanie N Maves
    Am J Med Genet C Semin Med Genet 145:232-40. 2007
    ..The role of the clinical geneticist as a member of the health care team in this population will be discussed...
  24. ncbi request reprint Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype
    Marc S Williams
    Department of Pediatrics, Gundersen Lutheran Medical Center LaCrosse, Wisconsin 54601, USA
    Am J Med Genet A 121:281-2. 2003
    ..We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed...