Department of Pediatrics

Education

• BS, Vanderbilt University, 1997
• MD, Vanderbilt University School of Medicine, 2001
• MS, Washington University School of Medicine, 2010

Training

• Resident, Pediatrics, Northwestern University School of Medicine, 2001 - 2004
• Chief Resident, Pediatrics, Northwestern University School of Medicine, 2004 - 2005
• Fellow, Newborn Medicine, Washington University School of Medicine, 2005 - 2008

Licensure and Board Certification

• American Board of Pediatrics, General Pediatrics , 2004
• American Board of Pediatrics, Neonatal-Perinatal Medicine , 2010

Honors

• Phi Beta Kappa, Vanderbilt University, 1997
• Amos Christie Scholar in Pediatrics, Vanderbilt University School of Medicine, 1998
• Microbes and Defense Academic Honor Society, Vanderbilt University School of Medicine, 1998
• Dean's Award, Vanderbilt University School of Medicine, 2001
• Resident Teaching Award, Northwestern University School of Medicine, 2002
• National Institutes of Health, Loan Repayment Program, 2007 - 2013
• Spotlight on Women in Medicine, Washington University School of Medicine, Invited Speaker, 2009
• American Thoracic Society & chILD Travel Award, 2010
• Pediatric UPDATE “Hyaline Membrane Disease and Other Surfactant Disorders.” Volume 32, Issue 8, Invited Discussant, 2011
• NHLBI Workshop on Genomics and Lung Diseases, 2011
• Japanese Respiratory Society, International Session Award, 2015
• American Thoracic Society Meeting, Lead Facilitator for Thematic Poster Session: Lung Development, Pulmonary Hypertension, and Rare Lung Diseases, 2015
• Childhood Interstitial Lung Disease (chILD) Annual Meeting, Invited Speaker, Genetic Disorders of Surfactant Function, 2015
• NHLBI Workshop on Pediatric Rare Lung Diseases, Invited Participant, 2015
• Childhood Interstitial Lung Disease (chILD) Surfactant Week, Invited Webinar Speaker, 2015
• American Thoracic Society, Pediatric Core Curriculum, Invited Speaker, 2016
• American Thoracic Society, Moderator for Poster Symposium, Neonatal and Congenital Lung Disorders, 2016
• NIH Respiratory Integrative Biology and Translational Research Study Section, Early Career Reviewer, 2016
• Illumina Whole Genome Sequencing Customer Advisory Group, 2017
• Rare Pediatric Respiratory Disease: Science Shapes Precision Care, Scientific Advisory, 2017
• Perinatal Institute, Cincinnati Children’s Hospital, Pulmonary Biology and Pulmonary Medicine, Invited Speaker, 2018
• American Thoracic Society, Sunrise Seminar, What's all the VUS about testing for pediatric lung diseases?", Invited Speaker, 2018 - 2018

Recent Publications view all (37)

Publication Co-Authors

Marcia C. Willing, M.D., Ph. D.

Dustin Baldridge

Todd Druley, M.D., Ph.D.

Shawn O'Connor

Stuart C. Sweet, M.D., Ph.D.

Marwan Shinawi, M.D.

Barbara B. Warner, M.D.

Thomas Ferkol, M.D.

Neil H. White, M.D.

Caroline K. Lee, M.D.

Dorothy Katherine Grange, M.D.

R. Mark Grady, M.D.

Bess A. Marshall, M.D.

Francis Sessions Cole, III, M.D.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Jennifer A Wambach, M.D.

1. 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. PMID:29967526 
2. McPherson C, Wambach JA. Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates. Neonatal Netw. 2018;37(3):169-177. PMID:29789058 
3. Stout MJ, Demaree D, Merfeld E, Tuuli MG, Wambach JA, Cole FS, Cahill AG. Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth. Am J Perinatol. 2018;35(5):494-502. PMID:29183099 
4. 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 
5. Chen YJ, Meyer J, Wambach JA, DePass K, Wegner DJ, Fan X, Zhang QY, Hillary H, Cole FS, Hamvas A.. Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population. World J Pediatr. 2018;14(1):52-56. PMID:29411327 
6. 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. PMID:28726266 
7. Jacobs A, Morley M, Hawkins F, McCauley KB, Jean JC, Heins H, Na CL, Weaver TE, Vediae M, Hinds A, Russo SJ, Kook S, Zacharias W, Ochs M, Traber K, Quinton LJ, Crance A, Davis BR, White FV, Wambach J, Whitsett JA, Cole FS, Morrissey EE, Guttentag SG, Beers MF, Kotton DN. . Generation of mature lung alveolar epithelial cells from human pluripotent stem cells. Cell Stem Cell. 2017. 
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. Young LR, Trapnell BC, Mandl KD, Swarr DT, Wambach JA, Blaisdell CJ. Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research: Report from a NIH-NHLBI Workshop, September 3-4, 2015. Ann Am Thorac Soc. 2016;12:385-393. PMID:27925785 
10. Wambach JA, Yang P, Wegner DJ, Heins HB, Kaliberova LN, Kaliberov SA, Curiel DT, White FV, Hamvas A, Hackett BP, Cole FS. Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. Am J Respir Cell Mol Biol. 2016;55(5):716-721. PMCID:PMC5105181  PMID:27374344 
11. Boyer D, Thomson CC, Cohen R, Rao D, Dell S, Rayment J, Wang R, Dy FJ, Wambach J, Tam-Williams J, Simon D, Price E, Oermann CM, Singh A, Rettig JS, Duncan ED, Baker CD, Liptzin DR, Moore PE. ATS Core Curriculum 2016: Part III. Pediatric Pulmonary Medicine. Ann Am Thorac Soc. 2016;13(6):955-66. PMID:27295156 
12. Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016;12(2):190-5. PMID:26547207 
13. 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 
14. 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 
15. Yarbrough CK, Bandt SK, Hurth K, Wambach JA, Rao R, Kulkarni S, White FV, Frater JL, Leonard JR. Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3). Cureus. 2015;7(7):e289. PMCID:PMC4523210  PMID:26244121 
16. Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA. Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol. 2015;35(3):231-2. doi:10.1038/jp.2014.236  PMCID:PMC4341920   PMID:25712598 
17. Marshall BA, Green RP, Wambach J, White NH, Remedi MS, Nichols CG. Remission of severe neonatal diabetes with very early sulfonylurea treatment. Diabetes Care. 2015;38(3):e38-9. doi:10.2337/dc14-2124  PMID:25715421 
18. Wambach JA, Young LR. New clinical practice guidelines on the classification, evaluation and management of childhood interstitial lung disease in infants: what do they mean? Expert Rev Respir Med. 2014;1-3. doi:10.1586/17476348.2014.951334  PMID:25138715 
19. 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. doi:10.1164/rccm.201402-0342OC  PMID:24871971 
20. 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. doi:10.1016/j.jpeds.2014.02.021  PMCID:PMC4035386  PMID:24657120 
21. Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014. doi:10.1002/ajmg.a.36606  PMID:24842713 
22. Moeckel D, Grange DK, Wambach J. Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14:e412. 
23. Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013;34(6):801-11. doi:10.1002/humu.22313  PMCID:PMC3663886  PMID:23505205 
24. Julian S, Coplen DE, Wambach J. Visual Diagnosis: Term Newborn with Abdominal Wall Defect, Ambiguous Genitalia, and Respiratory Distress Neoreviews. 2013;14:e211. 
25. 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. doi:10.1542/peds.2012-0918  PMCID:PMC3507255  PMID:23166334 
26. Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res. 2012;71(6):633-7. doi:10.1038/pr.2012.21  PMCID:PMC3607324  PMID:22337229 
27. Farrell K, Hayashi RJ, Wambach J. Blueberry Muffin Rash and Respiratory Distress in a Late Preterm Infant American Academy of Pediatrics-Neoreviews. 2012;13:e506. 
28. Wolfe MB, Beck AM, Wambach J. Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism American Academy of Pediatrics-Neoreviews. 2011;12:e55-60. 
29. 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. doi:10.1203/PDR.0b013e3181eb5d68  PMCID:PMC2921462  PMID:20539253 
30. 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. doi:10.1111/j.1399-5448.2009.00557.x  PMCID:PMC3245710  PMID:19656320 
31. Collins JW Jr, Wambach J, David RJ, Rankin KM. Women's lifelong exposure to neighborhood poverty and low birth weight: a population-based study. Matern Child Health J. 2009;13(3):326-33. doi:10.1007/s10995-008-0354-0  PMID:18459039 
32. Wambach J, Morley SC. Skin ulcerations in a preterm newborn American Academy of Pediatrics - Neoreviews. 2009;10:e575-81. 
33. Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63(6):645-9. doi:10.1203/PDR.0b013e31816fdbeb  PMCID:PMC2765719  PMID:18317237 
34. McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol. 2008;43(5):443-50. doi:10.1002/ppul.20782  PMCID:PMC2765708  PMID:18383112 
35. Corredor J, Wambach J, Barnard J. Gastrointestinal polyps in children: advances in molecular genetics, diagnosis, and management. J Pediatr. 2001;138(5):621-8. doi:10.1067/mpd.2001.113619  PMID:11343034 
36. Wambach J, Barnard J. SMAD4 germline mutations in juvenile polyposis coli. J Pediatr Gastroenterol Nutr. 1999;28(5):538-9. PMID:10328134 
37. Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Schrier Vergano SA, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A. Biallelic POLR3A Loss of Function Variants Cause Autosomal Recessive Wiedemann-Rautenstrauch Syndrome (WRS) Am J Hum Genet.