Jennifer A Wambach, M.D.

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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
  • American Pediatric Society2022 - Pres

Recent Publications view all (66)

  1. Identifying the essential knowledge and skills for Neonatal-Perinatal Medicine: A systematic analysis of practice. J Perinatol. 2022. doi:10.1038/s41372-022-01429-y  PMID:35732728  
  2. Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. Pediatr Nephrol. 2022. doi:10.1007/s00467-022-05616-z  PMID:35695966  
  3. Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency. Pediatr Pulm. 2022;57(5):1325-1330. PMCID:9148430  PMID:35170262  
  4. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022;119(6)(e2105228119). PMCID:8832968  PMID:35121658  
  5. Gene therapy potential for genetic disorders of surfactant dysfunction. Front Genome Ed. 2022;3(785829). PMCID:8798122   PMID:35098209  
  6. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. Am J Med Genet A. 2021. PMCID:8758552   PMID:34773388  
  7. 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. PMCID:8477301  PMID:34570182  
  8. First steps toward personalized therapies for ABCA3 deficiency Am J Resp Cell Mol Biol. 2021. PMCID:8990116  PMID:35077664  
  9. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease Cell Rep. 2021. PMCID:8432578   PMID:34469722 
  10. 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. PMCID:8410113   PMID:34132118 
  11. 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. PMCID:8725205   PMID:33984517 
  12. 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. PMCID:8725206   PMID:33931933 
  13. Essentials of Neonatal Perinatal Medicine Fellowship: An Overview. J Perinatol. 2021. PMID:33883690 
  14. Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses. Am J Med Genet A. 2020. PMCID:8218330  PMID:33184947 
  15. Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly. J Endocr Soc. 2020. PMCID:7653638  PMID:33210059  
  16. Functional Genomics of ATP-Binding Cassette Transporter A3 (ABCA3) Variants. Am J Resp Cell Mol Biol. 2020. PMCID:7528924  PMID:32692933 
  17. Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery. Pediatr Pulmonol. 2020;55(7):1828-1837. PMCID:8711209  PMID:32533908 
  18. 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. PMCID:7295006  PMID:32083401 
  19. Functional Characterization of Four ATP Binding Cassette Transporter A3 Gene (ABCA3) Variants. Hum Mutat. 2020;41(7):1298-1307. PMCID:7292786  PMID:32196812 
  20. Neuroendocrine Cell Hyperplasia of Infancy: Clinical Score and Comorbidities. Ann Am Thorac Soc. 2020;17(6):724-728. PMCID:7258416  PMID:32109152 
  21. Postmenstrual Age at Discharge in Premature Infants with and without Respiratory Instability. J Perinatol. 2020;40(1):157-162. PMCID:7480785  PMID:31611617 
  22. A Step Towards Treating a Lethal Neonatal Lung Disease: STAT3 and Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019. PMCID:6794102   PMID:31343895 
  23. 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:6551519  PMID:30914273 
  24. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:6454695  PMID:30961659 
  25. CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. PLoS One. 2019;14(3):e0214257. doi:10.1371/journal.pone.0214257  PMCID:6435234  PMID:30913273 
  26. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018;103(6):968-975. PMCID:6288318  PMID:30414627 
  27. Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern,Pontocerebellar Hypoplasia, and Seizures. 2018. PMCID:6258334  PMID:29967526 
  28. 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:6240370  PMID:30084155  
  29. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMCID:6258334  PMID:29967526 
  30. Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates. Neonatal Netw. 2018;37(3):169-177. PMID:29789058 
  31. Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth. Am J Perinatol. 2018;35(5):494-502. PMID:29183099 
  32. 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:5826830  PMID:29198536 
  33. 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 
  34. Survival among Children with “Lethal” Congenital Contracture Syndrome Caused by Novel Mutations in the Gliomedin Gene (GLDN) Hum Mutat. 2017. PMCID:5638693  PMID:28726266 
  35. Generation of mature lung alveolar epithelial cells from human pluripotent stem cells. Cell Stem Cell. 2017. PMCID:5755620   PMID:28965766  
  36. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr. 2017;184:157-164.e2. PMCID:5443678  PMID:28215425 
  37. 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. PMCID:5291498  PMID:27925785 
  38. 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:5105181  PMID:27374344 
  39. ATS Core Curriculum 2016: Part III. Pediatric Pulmonary Medicine. Ann Am Thorac Soc. 2016;13(6):955-66. PMCID:5461990  PMID:27295156 
  40. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016;12(2):190-5. PMID:26547207 
  41. 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 
  42. 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. PMCID:8792801  PMID:26768185 
  43. Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3). Cureus. 2015;7(7):e289. PMCID:4523210  PMID:26244121 
  44. 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:4341920   PMID:25712598 
  45. Remission of severe neonatal diabetes with very early sulfonylurea treatment. Diabetes Care. 2015;38(3):e38-9. doi:10.2337/dc14-2124  PMCID:4876698  PMID:25715421 
  46. 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  PMCID:8785119  PMID:25138715 
  47. 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  PMCID:4226019  PMID:24871971 
  48. 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 
  49. 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  PMCID:4107046  PMID:24842713 
  50. Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14:e412. 
  51. 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:3663886  PMID:23505205 
  52. Visual Diagnosis: Term Newborn with Abdominal Wall Defect, Ambiguous Genitalia, and Respiratory Distress Neoreviews. 2013;14:e211. 
  53. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130(6):e1575-82. doi:10.1542/peds.2012-0918  PMCID:3507255  PMID:23166334 
  54. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res. 2012;71(6):633-7. doi:10.1038/pr.2012.21  PMCID:3607324  PMID:22337229 
  55. Blueberry Muffin Rash and Respiratory Distress in a Late Preterm Infant American Academy of Pediatrics-Neoreviews. 2012;13:e506. 
  56. Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism American Academy of Pediatrics-Neoreviews. 2011;12:e55-60. 
  57. 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:2921462  PMID:20539253 
  58. 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:3245710  PMID:19656320 
  59. 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 
  60. Skin ulcerations in a preterm newborn American Academy of Pediatrics - Neoreviews. 2009;10:e575-81. 
  61. 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:2765719  PMID:18317237 
  62. 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:2765708  PMID:18383112 
  63. 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 
  64. SMAD4 germline mutations in juvenile polyposis coli. J Pediatr Gastroenterol Nutr. 1999;28(5):538-9. PMID:10328134 
  65. Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome. Am J Med Genet A. 182(5):1053-1065. PMID:32083401 
  66. First steps toward personalized therapies for ABCA3 deficiency Am J Resp Cell Mol Biol. 
Last updated: 07/31/2022
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