Publications

  1. Wambach JA, Marshall BA, Koster JC, White NH, Nichols CG. Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatr Diabetes. 2010;11(4):286-8. PMCID:PMC3245710 PMID:19656320
  2. Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A. Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res. 2010;68(3):216- 20. PMCID:PMC2921462 PMID:20539253

  3. Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130(6):e1575-82. PMCID:PMC3507255 PMID:23166334
  4. Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014;164(6):1316-1321.e3. PMCID:PMC4035386 PMID:24657120
  5. Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014;189(12):1538-43. PMCID:PMC4226019 PMID:24871971
  6. Shen CL, Zhang Q, Meyer Hudson J, Cole FS, Wambach JA. Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants. J Pediatr. 2016;172:69-74.e2. PMCID:PMC4876036 PMID:26935785
  7. Amarillo IE, O'Connor S, Lee CK, Willing M, Wambach JA. De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. Am J Med Genet A. 2015;167A(12):2966-74. PMID:26768185
  8. Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr. 2017;184:157-164.e2. PMCID: PMC5443678 PMID: 28215425

  9. Wambach JA, Stettner GM, Haack TB, Writzl K, Skofljanec A, Maver A, Muell F, Ossowski S,. Survival among Children with “Lethal” Congenital Contracture Syndrome Caused by Novel Mutations in the Gliomedin Gene (GLDN) Hum Mutat. 2017. PMCID: PMC5638693 PMID: 28726266

  10. Towe CT, White FV, Grady RM, Sweet SC, Eghtesady P, Wegner DJ, Sen P, Szafranski P, Stankiewicz P, Hamvas A, Cole FS, Wambach JA. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018;194:158-164.e1. PMCID: PMC5826830 PMID: 29198536

  11. Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMCID: PMC6258334 PMID: 29967526

  12. Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018;103(6):968-975. PMCID: PMC6288318 PMID: 30414627

  13. Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, Shinawi M. Phenotype and Response to Growth Hormone Therapy in Siblings with B4GALT7 Deficiency. Bone. 2019;124:14-21. PMCID: PMC6551519 PMID: 30914273

  14. Wambach JA, Nogee LM. A Step Towards Treating a Lethal Neonatal Lung Disease: STAT3 and Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019. PMID:31343895

  15. Baldridge A, Spillman RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome. Am J Med Genet A. 2020 May;182(5):1053-1065. PMID: 32083401

  16. Hu JY, Yang P, Wegner DJ, Heins HB, Luke CJ, Li F, White FV, Silverman GA, Cole FS, Wambach JA. Functional Characterization of Four ATP Binding Cassette Transporter A3 Gene (ABCA3) Variants. Hum Mutat. 2020 Mar 20. PMID: 32196812

  17. Wambach JA, Yang P, Wegner DJ, Heins HB, Luke CJ, Li F, White FV, Cole FS. Functional Genomics of ATP-Binding Cassette Transport A3 (ABCA3) Variants. Am J Resp Cell Mol Biol. 2020 Jul 21. PMID: 32692933

  18. Granadillo De Luque J, Wegner DJ, Paul A, Willing M, Tedder M, Sadikovic B, Sisco K, Baldridge D, Wambach JA, Cole FS. Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses. Am J Med Genet A. 2020 Nov 13. PMID: 33184947

  19. Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. Biallelic ASCC1 Variants including a Novel Intronic Variant Result in Expanded Phenotypic Spectrum of Spinal Muscle Atrophy with Congenital Bone Fractures 2. Am J Med Genet A. In press.    

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