Volume 1, Number 2, Year 2012
Editorial Article
Myles S. Faith
Electronic medical records, genetics, and childhood obesity: A new direction for scientific discovery?
Review Articles
Michael T. Gabbett
The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence
Barkur S. Shastry
Pharmacogenomics and its importance in pediatric medicine
Original Articles
Kai Wang, Haitao Zhang, Frank D. Mentch, Jonathan P. Bradfield, Joseph T. Glessner, Haijun Qiu, Yiran Guo, Cuiping Hou, Edward C. Frackelton, Kelly Thomas, Amber Bender, Anthony Albano, George Otieno, Maria Garris, Kallyn Seidler, Alexander Moy, Cecilia E. Kim, Brendan Keating, Rosetta M. Chiavacci, Robert Grundmeier, Patrick A. Sleiman, Struan F.A. Grant, and Hakon Hakonarson
Examination of genetic variants influencing lipid traits in pediatric populations
Alessandra Patitucci, Angela Magariello, Carmine Ungaro, Maria Muglia, Francesca L. Conforti, Anna L. Gabriele, Luigi Citrigno, William Sproviero, and Rosalucia Mazzei
SMN1 gene copy number analyses for SMA healthy carriers in Italian population
Angharad R. Morgan, John M.D. Thompson, Karen E. Waldie, Christine M. Cornforth, Darko Turic, Edmund J.S. Sonuga-Barke, Wen-Jiun Lam, Lynnette R. Ferguson, and Edwin A. Mitchell
Initial evidence that polymorphisms in neurotransmitter-regulating genes contribute to being born small for gestational age
Feras M. Hantash, Boris T. Wang, Renius Owen, Leslie P. Ross, Loretta W. Mahon, Fatih Z. Boyar, Arturo Anguiano, and Charles M. Strom
Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology
Leigh Anne Flore, Eyby Leon, Tom A. Maher, and Jeff M. Milunsky
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation
Adriana Mimbacas, Graciela Vitarella, Jorge Souto, Ana Laura Reyes, Joaquina Farias, Mariana Fernández, Matias Fabregat, and Gerardo Javiel
The phenotype masks the genotype: A possible new expression of diabetes
Lilian Cohen, Joy Samanich, Quilu Pan, Lakshmi Mehta, and Robert Marion
17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature
Thomas Eggermann, Sabrina Spengler, Ulrike Gamerdinger, Bernd Denecke, Silke Grimm, Manfred Grimm, Regine Schubert, and Gesa Schwanitz
Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints