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

• 2004 - PresAmerican Board of Pediatrics, General Pediatrics
• 2005 - PresNeonatal Resuscitation Program Provider
• 2008 - PresState of Missouri, Division of Professional Registration, Physician
• 2010 - PresAmerican Board of Pediatrics, Neonatal-Perinatal Medicine

Honors and Awards

• 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 for Leadership and Service, Vanderbilt University School of Medicine, 2001
• Resident Teaching Award, Northwestern University School of Medicine, 2002
• National Institutes of Health, Loan Repayment Program, 2007 - 2013
• American Thoracic Society & chILD Travel Award, 2010
• Pediatric UPDATE “Hyaline Membrane Disease and Other Surfactant Disorders.” Volume 32, Issue 8, Invited Discussant, 2011
• National Heart, Lung, Blood Institute Workshop on Genomics and Lung Diseases, Invited Participant, 2011
• Japanese Respiratory Society, International Session Award, 2015
• American Thoracic Society Annual Meeting, Thematic Poster Session: Lung Development, Pulmonary Hypertension, and Rare Lung Diseases, Facilitator, 2015
• National Heart, Lung, Blood Institute Workshop on Pediatric Rare Lung Diseases, Invited Participant, 2015
• American Thoracic Annual Society, Poster Symposium: Neonatal and Congenital Lung Disorders, Moderator, 2016
• Illumina, Whole Genome Sequencing, Advisory Group, 2017
• Pediatric Academic Society/ Society for Pediatric Research, Thematic Poster Session: Neonatal Pulmonology: Lung Disease- Translational, Facilitator, 2019
• American Thoracic Society Annual Meeting, Rare Lung Disease Symposium, Co-Moderator, 2019
• American Thoracic Society Pediatric Assembly Robert C. Mellins Award, 2020

Recent Publications view all (51)

Publication Co-Authors

James Kemp, M.D.

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.

Melissa Riley

Christopher McPherson

Cliff J. Luke, Ph.D.

Justin Buland

Ina E. Amarillo, PhD FACMG ErCLG

Barbara B. Warner, M.D., MSc

Thomas Ferkol, M.D.

Neil H. White, M.D.

Stephen C. Pak, Ph.D.

Caroline K. Lee, M.D.

Dorothy Katherine Grange, M.D.

Patricia Dickson

Gary A. Silverman, M.D., Ph.D.

R. Mark Grady, M.D.

Bess A. Marshall, M.D.

Huiyan Huang

Tomi L. Toler, MS, CGC

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. Stone S, Wegner DJ, Wambach JA, Cole FS, Urano F, Ornitz DM.. Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly. J Endocr Soc. 2020. 
2. Wambach JA, Yang P, Wegner DJ, Heins HB, Luke CJ, Li F, White FV, Cole FS. . Functional Genomics of ATP-Binding Cassette Transporter A3 (ABCA3) Variants. Am J Resp Cell Mol Biol. 2020. PMID:32692933 
3. Vece TJ, Wambach JA, Hagood JS.. Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery. Pediatr Pulmonol. 2020;55(7):1828-1837. PMID:32533908 
4. 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. Am J Med Genet A.. 2020;182(5):1053-1065. PMID:32083401 
5. 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;41(7):1298-1307. PMID:32196812 
6. Liptzin D, Pickett K, Brinton J, Agarwal A, Fishman M, Casey A, Towe C, Taylor J, Kurland G, Hagood J, Wambach J, Srivastava R, Al-Saleh Hani, Dell S, Young L, Deterding RA.. Neuroendocrine Cell Hyperplasia of Infancy: Clinical Score and Comorbidities. Ann Am Thorac Soc. 2020;17(6):724-728. PMID:32109152 
7. Hoover J, Wambach J, Vachharajani A, Warner B, Carroll JL, Kemp JS.. Postmenstrual Age at Discharge in Premature Infants with and without Respiratory Instability. J Perinatol. 2020;40(1):157-162. PMID:31611617 
8. 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 
9. 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. doi:10.1016/j.bone.2019.03.029  PMCID:PMC6551519  PMID:30914273 
10. Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:PMC6454695  PMID:30961659 
11. Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ. CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. PLoS One. 2019;14(3):e0214257. doi:10.1371/journal.pone.0214257  PMCID:PMC6435234  PMID:30913273 
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. Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, 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. 2018. PMID:29967526 
14. Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. . LINE and Alu genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV Hum Mut. 2018;39(12):1916-1925. PMCID:PMC6240370  PMID:30084155  
15. 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 
16. McPherson C, Wambach JA. Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates. Neonatal Netw. 2018;37(3):169-177. PMID:29789058 
17. 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 
18. 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 
19. 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 
20. 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 
21. 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. 
22. 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 
23. 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 
24. 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 
25. 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 
26. 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 
27. 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 
28. 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 
29. 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 
30. 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 
31. 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 
32. 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 
33. 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 
34. 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 
35. 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 
36. Moeckel D, Grange DK, Wambach J. Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14:e412. 
37. 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 
38. Julian S, Coplen DE, Wambach J. Visual Diagnosis: Term Newborn with Abdominal Wall Defect, Ambiguous Genitalia, and Respiratory Distress Neoreviews. 2013;14:e211. 
39. 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 
40. 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 
41. 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. 
42. Wolfe MB, Beck AM, Wambach J. Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism American Academy of Pediatrics-Neoreviews. 2011;12:e55-60. 
43. 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 
44. 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 
45. 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 
46. Wambach J, Morley SC. Skin ulcerations in a preterm newborn American Academy of Pediatrics - Neoreviews. 2009;10:e575-81. 
47. 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 
48. 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 
49. 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 
50. Wambach J, Barnard J. SMAD4 germline mutations in juvenile polyposis coli. J Pediatr Gastroenterol Nutr. 1999;28(5):538-9. PMID:10328134 
51. 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. 182(5):1053-1065. PMID:32083401