Marc S Williams

Summary

Affiliation: LDS Hospital
Country: USA

Publications

  1. 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
  2. ncbi request reprint The natural history of severe anemia in cartilage-hair hypoplasia
    Marc S Williams
    Intermountain Health Care Clinical Genetics Institute, LDS Hospital, Salt Lake City, Utah 84103, USA
    Am J Med Genet A 138:35-40. 2005
  3. pmc Examining the challenges of family recruitment to behavioral intervention trials: factors associated with participation and enrollment in a multi-state colonoscopy intervention trial
    Rebecca G Simmons
    Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
    Trials 14:116. 2013
  4. 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
  5. doi request reprint Hemangioma is associated with atopic disease
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, Utah, USA
    Otolaryngol Head Neck Surg 146:206-9. 2012
  6. 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
  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. ncbi request reprint Developmental anomalies of the scapula-the "omo"st forgotten bone
    Marc S Williams
    Department of Pediatrics, Gundersen Lutheran Medical Center La Crosse, Wisconsin 54601, USA
    Am J Med Genet A 120:583-7. 2003
  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

Collaborators

Detail Information

Publications23

  1. 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...
  2. ncbi request reprint The natural history of severe anemia in cartilage-hair hypoplasia
    Marc S Williams
    Intermountain Health Care Clinical Genetics Institute, LDS Hospital, Salt Lake City, Utah 84103, USA
    Am J Med Genet A 138:35-40. 2005
    ..Thrombocytosis, though not previously reported in CHH, was noted in five patients, similar to that seen in DBA. The role of possible gene-gene and gene-environment interactions is discussed...
  3. pmc Examining the challenges of family recruitment to behavioral intervention trials: factors associated with participation and enrollment in a multi-state colonoscopy intervention trial
    Rebecca G Simmons
    Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
    Trials 14:116. 2013
    ..Furthermore, although use of cancer registries to identify initial cases has increased, to our knowledge no study has examined the relationship between registries and family recruitment outcomes...
  4. 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...
  5. doi request reprint Hemangioma is associated with atopic disease
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, Utah, USA
    Otolaryngol Head Neck Surg 146:206-9. 2012
    ..Understanding the relationship between atopic disease and infantile hemangioma may elucidate the pathophysiology of each and ultimately lead to better treatment options. ..
  6. 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...
  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. ncbi request reprint Developmental anomalies of the scapula-the "omo"st forgotten bone
    Marc S Williams
    Department of Pediatrics, Gundersen Lutheran Medical Center La Crosse, Wisconsin 54601, USA
    Am J Med Genet A 120:583-7. 2003
    ..Data on gene expression in the scapula will be reviewed. Based on this information, the author proposes that the scapula arises from 2 or more distinct embryologic anlage under different genetic control than the upper limb...
  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. doi request reprint Primary sclerosing cholangitis, autoimmune hepatitis, and overlap in Utah children: epidemiology and natural history
    Mark Deneau
    Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Utah, Salt Lake City, UT
    Hepatology 58:1392-400. 2013
    ..4%) overall. Conclusion: Immune-mediated liver diseases are important sources of morbidity in children. Using a population-based design, this study quantifies the burden and natural history of immune-mediated liver disease in children...
  12. 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...
  13. 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
    ....
  14. 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
  15. 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...
  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. ncbi request reprint Chronic granulomatous disease presenting with disseminated intracranial aspergillosis
    Abdul Alsultan
    Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Pediatr Blood Cancer 47:107-10. 2006
    ..Whereas, optimal pharmacologic therapy is still unknown for CNS aspergillosis, voriconazole may have an advantage due to its ability to cross the blood brain barrier and excellent oral absorption and bioavailability...
  18. 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...
  19. 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...
  20. ncbi request reprint Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results
    Marc S Williams
    Am J Med Genet A 138:66-7. 2005
  21. 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...
  22. ncbi request reprint Myostatin mutation associated with gross muscle hypertrophy in a child
    Marc S Williams
    N Engl J Med 351:1030-1; author reply 1030-1. 2004
  23. ncbi request reprint Nongenetic male pseudohermaphroditism
    Marc S Williams
    N Engl J Med 346:628-9. 2002