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Journal of Human Genetics|January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patientsParith Wongkittichote, Daniel J Wegner, Marwan S ShinawiFrontiers in Pediatrics|September 8, 2017
The Genomics of Neonatal Abstinence SyndromeF Sessions Cole, Daniel J Wegner, Jonathan M DavisJournal of the Endocrine Society|November 19, 2020
Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and PseudoacromegalyStephen I Stone, Daniel J Wegner, Jennifer A Wambach, et al.Pediatric Research|June 12, 2010
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcriptionJennifer A Wambach, Ping Yang, Daniel J Wegner, et al.BMC Medical Genetics|October 10, 2013
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotypeEline van Meel, Daniel J Wegner, Paul Cliften, et al.JIMD Reports|November 7, 2025
Severe Neurological Presentation in Siblings With <i>COQ5</i>-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular SpectrumParith Wongkittichote, Rachel M Guerra, Daniel J Wegner, et al.Bone|March 28, 2019
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiencyCarla Sandler-Wilson, Jennifer A Wambach, Bess A Marshall, et al.Pediatric Nephrology (Berlin, Germany)|June 13, 2022
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21BLuke Viehl, Daniel J Wegner, Stanley P Hmiel, et al.Neurology. Genetics|December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in <i>RFC1</i> Resulting in CANVAS SyndromeKatherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.Archives of Pediatrics & Adolescent Medicine|June 9, 2004
Informed consent for genetic researchAaron Hamvas, Katherine K Madden, Lawrence M Nogee, et al.Pageof 6