Genetics 2012 Research
Genetics 2012 Research

Peer-Reviewed Articles

Rosenfeld, JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BD, Paciorkowski AR, Shaffer LG. Genotype-phenotype Ccorrelation in Interstitial 6q Deletions: A Report of 12 New Cases. Neurogenetics 13(1):31-47 (2012)

Sass JO, Walter M, Shield JPH, Atherton AM, Garg U, Scott D, Woods CG, Smith LD. 3-Hydroxyisobutyrate Aciduria and Mutations in the ALDH6A1 Gene Coding for Methylmalonate -Semialdehyde Dehydrogenase. J Inh Metab Dis 35(3):437-442 (2012)

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and Phenotypic Analysis of 396 Individuals with Mutations in Sonic Hedgehog. J Med Genet 49: 473-439 (2012)

Welsh HI, Stockley TL, Parkinson N, Ardinger HH. CDKN1C Mutations and Genital Anomalies. Am J Med Genet A 158A(1):265 (2012)

Book or Book Chapters

Atherton AM, Smith LD, Heese BA, Garg U. Lysosomal Storage Disorders: Mucopolysaccharidoses and Mucolipidoses. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 105-118 (2012)

Atherton AM, Smith LD, Heese BA, Garg U. (Lysosomal Storage Disorders: Sphingolipidoses and Lysosomal Transport Disorders. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 119-132 (2012)

Ferguson A, Smith LD, Garg U. Disorders of Carbohydrate Metabolism. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 93-104 (2012)

Garg U, Heese BA, Smith LD. (Newborn Screening. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 219-228 (2012)

Garg U, Smith LD. Other Inherited Metabolic Diseases. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 229-234 (2012)

Garg U, Smith LD, Heese BA. Introduction to the Laboratory Diagnosis of Inherited Metabolic Diseases. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 1-12 (2012)

Smith LD, Garg U. Peroxisomal Disorders. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 133-142 (2012)

Smith LD, Garg U. The Urea Cycle Disorders. In: Laboratory Diagnosis of Inherited Metabolic Diseases. Eds. U Garg, LD Smith and BA Heese, AACC Press, pp 55-64 (2012)


Scientific Presentations-Oral or Poster Format

 

Ardinger HH, Begleiter ML “Evolution of a Diagnosis—The Journey to Myhre Syndrome” David W. Smith Workshop on Malformations and Morphogenesis, Buford GA, August 2012 [Poster]

Benolkin K, Atherton A, Rogers P, Hetherington M, Srivastava T, Garg U, Smith L “Rhabdomyolysis in a 12-year-old African American Female” Society for Inherited Metabolic Diseases Meeting, Charlotte NC, April 2012 [Poster]

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Farrow EG, Safina NP, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Petrikin JE, Hall KP, Kingsmore SF “Whole Genome Sequencing in Two Brothers with Heterotaxy Reveals BCL9L as a Novel Gene Associated with Autosomal Recessive Heterotaxy (HTX6)” ASHG, San Francisco CA, November 2012 [Poster]

Saunders C, Smith L, Dinwiddie D, Atherton A, Soden S, Miller N, Kingsmore S “Exome Sequencing in Two Sisters with Cerebellar Ataxia Revealing Homozygous APTX mutation” American College of Medical Genetics Meeting, Charlotte NC, March 2012 [Poster]

 



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