Jennifer A Wambach, M.D.

Profile picture
Researcher, Pathobiology
Co-Director, Neonatal Perinatal Medicine Fellowship Program
Associate Professor of Pediatrics, Newborn Medicine
Newborn Medicine

phone: (314) 454-6148


  • BS, Vanderbilt University1997
  • MD, Vanderbilt University School of Medicine2001
  • MS, Washington University School of Medicine2010


  • Resident, Pediatrics, Northwestern University School of Medicine2001 - 2004
  • Chief Resident, Pediatrics, Northwestern University School of Medicine2004 - 2005
  • Fellow, Newborn Medicine, Washington University School of Medicine2005 - 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 University1997
  • Amos Christie Scholar in Pediatrics, Vanderbilt University School of Medicine1998
  • Microbes and Defense Academic Honor Society, Vanderbilt University School of Medicine1998
  • Dean's Award for Leadership and Service, Vanderbilt University School of Medicine2001
  • Resident Teaching Award, Northwestern University School of Medicine2002
  • National Institutes of Health, Loan Repayment Program2007 - 2013
  • American Thoracic Society & chILD Travel Award2010
  • Pediatric UPDATE “Hyaline Membrane Disease and Other Surfactant Disorders.” Volume 32, Issue 8, Invited Discussant2011
  • National Heart, Lung, Blood Institute Workshop on Genomics and Lung Diseases, Invited Participant2011
  • Japanese Respiratory Society, International Session Award2015
  • American Thoracic Society Annual Meeting, Thematic Poster Session: Lung Development, Pulmonary Hypertension, and Rare Lung Diseases, Facilitator2015
  • National Heart, Lung, Blood Institute Workshop on Pediatric Rare Lung Diseases, Invited Participant2015
  • American Thoracic Annual Society, Poster Symposium: Neonatal and Congenital Lung Disorders, Moderator2016
  • Illumina, Whole Genome Sequencing, Advisory Group2017
  • Pediatric Academic Society/ Society for Pediatric Research, Thematic Poster Session: Neonatal Pulmonology: Lung Disease- Translational, Facilitator2019
  • American Thoracic Society Annual Meeting, Rare Lung Disease Symposium, Co-Moderator2019
  • American Thoracic Society Pediatric Assembly Robert C. Mellins Award2020

Recent Publications view all (61)

  1. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. Am J Med Genet A. 2021. 
  2. Effect of whole genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: results from the NICUSeq randomized time-delayed trial JAMA Peds. 2021. 
  3. First steps toward personalized therapies for ABCA3 deficiency Am J Resp Cell Mol Biol. 2021. 
  4. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease Cell Rep. 2021. PMID:34469722 
  5. The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling. Am J Physiol Lung Cell Mol Physiol. 2021. PMID:34132118 
  6. Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46 XY difference of sexual development (DSD). J Steroid BIochem Mol Biol. 2021. PMID:33984517 
  7. 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. 2021. PMID:33931933 
  8. Essentials of Neonatal Perinatal Medicine Fellowship: An Overview. J Perinatol. 2021. PMID:33883690 
  9. Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses. Am J Med Genet A. 2020. PMID:33184947 
  10. Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly. J Endocr Soc. 2020. 
  11. Functional Genomics of ATP-Binding Cassette Transporter A3 (ABCA3) Variants. Am J Resp Cell Mol Biol. 2020. PMID:32692933 
  12. Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery. Pediatr Pulmonol. 2020;55(7):1828-1837. PMID:32533908 
  13. 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 
  14. Functional Characterization of Four ATP Binding Cassette Transporter A3 Gene (ABCA3) Variants. Hum Mutat. 2020;41(7):1298-1307. PMID:32196812 
  15. Neuroendocrine Cell Hyperplasia of Infancy: Clinical Score and Comorbidities. Ann Am Thorac Soc. 2020;17(6):724-728. PMID:32109152 
  16. Postmenstrual Age at Discharge in Premature Infants with and without Respiratory Instability. J Perinatol. 2020;40(1):157-162. PMID:31611617 
  17. A Step Towards Treating a Lethal Neonatal Lung Disease: STAT3 and Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019. PMID:31343895 
  18. 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 
  19. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:PMC6454695  PMID:30961659 
  20. 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 
  21. 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 
  22. Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern,Pontocerebellar Hypoplasia, and Seizures. 2018. PMID:29967526 
  23. 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  
  24. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
  25. Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates. Neonatal Netw. 2018;37(3):169-177. PMID:29789058 
  26. Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth. Am J Perinatol. 2018;35(5):494-502. PMID:29183099 
  27. 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 
  28. 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 
  29. Survival among Children with “Lethal” Congenital Contracture Syndrome Caused by Novel Mutations in the Gliomedin Gene (GLDN) Hum Mutat. 2017. PMID:28726266 
  30. Generation of mature lung alveolar epithelial cells from human pluripotent stem cells. Cell Stem Cell. 2017. 
  31. 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 
  32. 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 
  33. 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 
  34. ATS Core Curriculum 2016: Part III. Pediatric Pulmonary Medicine. Ann Am Thorac Soc. 2016;13(6):955-66. PMID:27295156 
  35. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016;12(2):190-5. PMID:26547207 
  36. 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 
  37. 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 
  38. Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3). Cureus. 2015;7(7):e289. PMCID:PMC4523210  PMID:26244121 
  39. 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 
  40. Remission of severe neonatal diabetes with very early sulfonylurea treatment. Diabetes Care. 2015;38(3):e38-9. doi:10.2337/dc14-2124  PMID:25715421 
  41. 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 
  42. 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 
  43. 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 
  44. 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 
  45. Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14:e412. 
  46. 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 
  47. Visual Diagnosis: Term Newborn with Abdominal Wall Defect, Ambiguous Genitalia, and Respiratory Distress Neoreviews. 2013;14:e211. 
  48. 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 
  49. 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 
  50. Blueberry Muffin Rash and Respiratory Distress in a Late Preterm Infant American Academy of Pediatrics-Neoreviews. 2012;13:e506. 
  51. Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism American Academy of Pediatrics-Neoreviews. 2011;12:e55-60. 
  52. 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 
  53. 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 
  54. 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 
  55. Skin ulcerations in a preterm newborn American Academy of Pediatrics - Neoreviews. 2009;10:e575-81. 
  56. 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 
  57. 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 
  58. 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 
  59. SMAD4 germline mutations in juvenile polyposis coli. J Pediatr Gastroenterol Nutr. 1999;28(5):538-9. PMID:10328134 
  60. Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome. Am J Med Genet A. 182(5):1053-1065. PMID:32083401 
  61. First steps toward personalized therapies for ABCA3 deficiency Am J Resp Cell Mol Biol. 
Last updated: 10/01/2021
© 2022 by Washington University in St. Louis
One Brookings Drive, St. Louis, MO 63130