Pediatric Genomic Medicine Publications
Pediatric Genomic Medicine Publications

Peer-Reviewed Articles

Sarah E. Soden, Carol J. Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E. Petrikin, Jean-Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darrell L. Dinwiddie, Greyson Twist, Aaron Noll, Bryce A. Heese, Lee Zellmer, Andrea M. Atherton, Ahmed T. Abdelmoity, Nicole Safina, Sarah S. Nyp, Britton Zuccarelli, Ingrid A. Larson, Ann Modrcin, Suzanne Herd, Mitchell Creed, Zhaohui Ye, Xuan Yuan, Robert A. Brodsky, and Stephen F. KingsmoreEffectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 3 December 2014 6:265ra168. DOI:10.1126/scitranslmed.3010076

Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Schroth GP, Plebani A, Parolini S, Kingsmore SFExome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like Primary Immunodeficiency Syndrome. Blood 119(13):3185-3187 (2012) 

Kingsmore SFLantos JDDinwiddie DLMiller NASoden SEFarrow EGSaunders CJNext-generation Community Genetics for Low- and Middle-income Countries. Genome Med 4(3):25 (2012) 

Lamour KH, Mudge J, Gobena D, Hurtado-Gonzales OP, Schmutz J, Kuo A,Miller NA, Rice BJ, Raffaele S, Cano LM, Bharti AK, Donahoo RS, Finley S, Huitema E, Hulvey J, Platt D, Salamov A, Savidor A, Sharma R, Stam R, Storey D, Thines M, Win J, Haas BJ, Dinwiddie DL, Jenkins J, Knight JR, Affourtit JP, Han CS, Chertkov O, Lindquist EA, Detter C, Grigoriev IV, Kamoun S, Kingsmore SFGenome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora Capsici. Mol Plant Microbe Interact 25(10):1350-1360 (2012) 

Saunders CJMiller NASoden SEDinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SFRapid Whole-genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. Sci Transl Med. 4(154):154ra135 (2012) 

Soden SESaunders CJDinwiddie DLMiller NA, Atherton AM, Alnadi NA, Leeder JS, Smith LD, Kingsmore SFA Systematic Approach to Implementing Monogenic Genomic Medicine: Genotype-driven Diagnosis of Genetic Diseases. J Genomes and Exomes1: 1-10 (2012) 

Soden SEFarrow EGSaunders CJLantos JDGenomic Medicine: Evolving Science, Evolving Ethics. Per Med 9(5):523-528 (2012) 

Soden SE, Garrison CB, Egan AM, Beckwith AM. Nutrition, Physical Activity, and Bone Mineral Density in Youth with Autistic Spectrum Disorders. J Dev Behav Pediatr 33(8):618-624 (2012) 

Tsalik EL, Jaggers LB, Glickman SW, Langley RJ, van Velkinburgh JC, Park LP, Fowler VG, Cairns CB, Kingsmore SF, Woods CW. Discriminative Value of Inflammatory Biomarkers for Suspected Sepsis. J Emerg Med 43(1):97-106 (2012) 

Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY. Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques. Cytogenet Genome Res 136(1):6-14 (2012)

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