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Neurology. Genetics|December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS SyndromeKatherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
The Journal of Pediatrics|February 21, 2017
Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant MetabolismWhitney B Eldridge, Qunyuan Zhang, Albert Faro, et al.
The Journal of Pediatrics|March 25, 2014
Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndromeJennifer A Wambach, Daniel J Wegner, Hillary B Heins, et al.
American Journal of Respiratory Cell and Molecular Biology|July 22, 2020
Functional Genomics of ABCA3 VariantsJennifer A Wambach, Ping Yang, Daniel J Wegner, et al.
American Journal of Respiratory and Critical Care Medicine|May 30, 2014
Genotype-phenotype correlations for infants and children with ABCA3 deficiencyJennifer A Wambach, Alicia M Casey, Martha P Fishman, et al.
Cureus|August 6, 2015
Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3)Chester K Yarbrough, S Kathleen Bandt, Kyle Hurth, et al.
World Journal of Pediatrics : WJP|February 8, 2018
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese populationYu-Jun Chen, Julia Meyer, Jennifer A Wambach, et al.
American Journal of Medical Genetics. Part A|November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analysesJorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.
Pediatric Pulmonology|February 16, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiencyKathryn K Xu, Daniel J Wegner, Lucille C Geurts, et al.
Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.
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