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Cancer Research|October 15, 2014
Common genetic variants in NEFL influence gene expression and neuroblastoma riskMario Capasso, Sharon Diskin, Flora Cimmino, et al.American Journal of Medical Genetics. Part A|March 21, 2025
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With GenodermatosesSneha A Rangu, Kierstin Keller, Dong Li, et al.European Journal of Human Genetics : EJHG|June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndromeDong Li, Leticia S Matsuoka, Sarah Donoghue, et al.Journal of Crohn'S & Colitis|April 10, 2020
Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide PolymorphismChristopher J Cardinale, Michael E March, Xiang Lin, et al.American Journal of Medical Genetics. Part A|December 28, 2020
Ciliopathies: Coloring outside of the linesAlanna Strong, Dong Li, Frank Mentch, et al.Molecular Genetics & Genomic Medicine|September 23, 2022
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individualMary Maj, Christie L Taylor, Kevin Landau, et al.American Journal of Medical Genetics. Part A|September 26, 2022
TBX6 as a cause of a combined skeletal-kidney dysplasia syndromeGuozhuang Li, Alanna Strong, Haojun Wang, et al.Critical Care Medicine|January 24, 2019
Midazolam Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic StudyAthena F Zuppa, Daniela J Conrado, Nicole R Zane, et al.Neuroimage|April 10, 2012
Being right is its own reward: load and performance related ventral striatum activation to correct responses during a working memory task in youthTheodore D Satterthwaite, Kosha Ruparel, James Loughead, et al.Human Genetics|October 10, 2013
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresiaEllen A Tsai, Christopher M Grochowski, Kathleen M Loomes, et al.Pageof 91