Marc S Williams
Affiliation: LDS Hospital
- The natural history of severe anemia in cartilage-hair hypoplasiaMarc 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...
- Speculations on the pathogenesis of CHARGE syndromeMarc 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...
- Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on riskDavid 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...
- Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomaliesKatharine 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...
- Consensus: a framework for evaluation of uncertain gene variants in laboratory test reportingDavid 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...
- Development and early usage patterns of a consumer-facing family health history toolNathan 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...
- Familial clustering of hemangiomasJ 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...
- Developmental anomalies of the scapula-the "omo"st forgotten boneMarc 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...
- Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variantsDavid 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...
- How well does family history predict who will get colorectal cancer? Implications for cancer screening and counselingDavid 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...
- Lynch syndrome screening implementation: business analysis by a healthcare systemJames M Gudgeon
Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, UT 84103, USA
Am J Manag Care 17:e288-300. 2011....
- Inflammatory bowel disease aggregation in Utah kindredsStephen 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...
- Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical reportMarc S Williams
Clinical Genetics Institute Intermountain Healthcare, Salt Lake City, Utah, USA
Am J Med Genet A 140:2812-5. 2006
- Chronic granulomatous disease presenting with disseminated intracranial aspergillosisAbdul 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...
- Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary resultsMarc S Williams
Am J Med Genet A 138:66-7. 2005
- Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl 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...
- Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea 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...
- Analysis of 88 adult patients referred for genetics evaluationStephanie 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...
- Myostatin mutation associated with gross muscle hypertrophy in a childMarc S Williams
N Engl J Med 351:1030-1; author reply 1030-1. 2004
- Nongenetic male pseudohermaphroditismMarc S Williams
N Engl J Med 346:628-9. 2002