Pediatric Genomic Medicine 2011 Research
Pediatric Genomic Medicine 2011 Research

Peer-Reviewed Articles

Bell, CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Woodward J, Peckham HE, Schroth GP, Kim R, Kingsmore SF. Comprehensive carrier testing for severe childhood recessive diseases by next generation sequencing. Science Translational Medicine 13(65): 65ra4 (2011)

Huang Y, Zaas AK, Rao A, Dobigeon N, Woolf PJ, Veldman T, Øien NC, McClain MT, Varkey JB, Nicholson B, Carin L, Kingsmore S, Woods CW, Ginsburg GS, Hero AO 3rd. Temporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection. PLoS Genet 7(8): e1002234 (2011)

Jie Z, Dinwiddie DL, Senft AP, Harrod KS. Regulation of STAT signaling in mouse bone marrow derived dendritic cells by respiratory syncytial virus. Virus Research 156(1-2): 127-133 (2011)

Kaukola T, Ojaniemi M, Tuimala J, Herva R, Saarela T, Kingsmore SF, Hallman M. Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies. Cytokine 54(1): 85-91 (2011)

Kingsmore, SF, Dinwiddie, DL, Miller, NA, Soden, SJ, Saunders, CJ for the Children’s Mercy Genomic Medicine Team. Adopting orphans: Comprehensive genetic testing of mendelian diseases of childhood by next-generation sequencing. Expert Reviews in Molecular Diagnostics 11(8): 855-868 (2011)

Kingsmore, SF, Dinwiddie, DL, Miller, NA, Soden, SJ, Saunders, CJ. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases: Applications: Preconception carrier screening, molecular diagnosis [Internet]. PLoS Currents: Evidence on Genomic Tests. (2011)

Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: When will it become routine? Science Transl Med 3: 87ps23 (2011)

Zhang G, Beck B, Luo W, Wu F, Kingsmore SF, Dai D. Development of a phylogenetic tree model to investigate the role of genetic mutations in endometrial tumors. Oncol Rep 25(5): 1447-1454 (2011)

Scientific Presentations-Oral or Poster Format

Dinwiddie DL “Clinical Molecular Testing for 591 619 Severe Childhood Diseases by Target Enrichment and Next Generation Sequencing” Invited Presentation, BioConference Live, webinar, October 2011 [Oral]

Dinwiddie DL “Clinical Molecular Testing for 591 619 Severe Childhood Recessive Diseases by Target Enrichment & Next Generation Sequencing” Illumina, La Jolla, CA, September 2011 [Oral]

Dinwiddie DL, Miller NA, Saunders CJ, Kingsmore SF “Clinical Molecular Testing for 591 619 Severe Childhood Recessive Diseases by Target Enrichment & Next-Generation Sequencing” Caliper Life Sciences Owner Group Meeting, San Diego, CA, September 2011 [Oral]

Dinwiddie DL “Clinical Molecular Testing for 591 Severe Childhood Diseases by Target Enrichment and Next-Generation Sequencing” Illumina User Group Meeting, St. Louis, MO, August 2011 [Oral]

Dinwiddie DL “Clinical Molecular Testing for 591 Severe Childhood Diseases by Target Enrichment and Next-Generation Sequencing” Agilent Technologies, Santa Rosa, CA, August 2011 [Oral]

Dinwiddie DL, Bell CJ, Miller NA, Hateley SL, Mudge JM, Saunders CJ, Kingsmore SF “Comprehensive Carrier Testing for Severe Childhood Recessive Diseases by Next Generation Sequencing” American College of Medical Genetics, Vancouver, Canada, March 2011 [Oral]

Dinwiddie DL, Kingsmore SF, et al “Epistatic Interaction of Mutations in DOCK8 and CLEC7A as a Cause of Intractable Diarrhea, Eczema and Immunodeficiency in Four Brothers” International Congress of Human Genetics, American Society of Human Genetics, Montreal, Canada, October 2011 [Oral]

Dinwiddie DL, Miller NA, Saunders CJ, Kingsmore SF “Molecular Testing for 595 Severe Childhood Recessive Diseases by
Next-Generation Sequencing” IBC's Next-Generation Sequencing and Genomics Medicine Applications Summit, San
Francisco, CA, August 2011 [Oral]

Dinwiddie DL, Miller NA, Saunders CJ, Kingsmore SF “Molecular Testing for 595 Severe Childhood Recessive Diseases by
Next-Generation Sequencing” Caliper Life Sciences Owner Group Meeting, Hopkington, MA, May 2011 [Oral]

 

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