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Journal of Pediatric Gastroenterology and Nutrition|March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemiaClaudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.Pediatric Neurology|June 26, 2016
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset EncephalopathiesPawel Gawlinski, Renata Posmyk, Tomasz Gambin, et al.Medrxiv : the Preprint Server for Health Sciences|May 4, 2026
Antenatal Screening for Sexually Transmitted Infections to Reduce Preterm Birth or Low Birthweight (Philani Ndiphile Study): A Randomized Three-Group TrialAndrew Medina-Marino, Chibuzor M Babalola, Mandisa M Mdingi, et al.Circulation. Cardiovascular Genetics|May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionMatthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.Plos Neglected Tropical Diseases|February 1, 2012
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequenceDarina Cejková, Marie Zobaníková, Lei Chen, et al.Cold Spring Harbor Molecular Case Studies|December 1, 2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndromeLinda M Polfus, Eric Boerwinkle, Richard A Gibbs, et al.Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Single cell long read whole genome sequencing reveals somatic transposon activity in human brainMichal B Izydorczyk, Ester Kalef-Ezra, Dominic W Horner, et al.Cancer Genetics|March 2, 2011
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallelSharon E Plon, David A Wheeler, Louise C Strong, et al.Nature Methods|October 16, 2007
Direct selection of human genomic loci by microarray hybridizationThomas J Albert, Michael N Molla, Donna M Muzny, et al.Scientific Data|February 17, 2016
An open access pilot freely sharing cancer genomic data from participants in TexasLauren B Becnel, Stacey Pereira, Jennifer A Drummond, et al.Pageof 65