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Jennifer Wambach

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Jennifer Wambach

Richard G. Engelsmann Distinguished Professor of Pediatrics SLCH, Professor of Pediatrics

 https://orcid.org/0000-0002-9299-0499
    • 3841
      Citations
    1999 …2026

    Research activity per year

    Personal profile

    Research interests

    I am a clinically active neonatologist and have a longstanding interest in understanding the genetic causes of birth defects and extreme phenotypes in infants and children. My research goals are (1) to use genomic sequencing technologies to identify the etiologies of birth defects and extreme phenotypes among infants and children and (2) to use functional studies to determine the disease mechanisms underlying these rare diseases. Specifically, our research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD) in infants and children. 

    Clinical interests

    newborn medicine

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    • Association between Subspecialty In-Training Examination Scores and First Attempt Results in Neonatal-Perinatal Medicine Boards

      Mir, I. N., Chokshi, R., Wambach, J. A., French, H., Frost, M. & Brion, L. P., Apr 1 2026, In: American journal of perinatology. 43, 6, p. 830-838 9 p.

      Research output: Contribution to journal › Article › peer-review

    • Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

      Keehan, L. A., Ono-Minagi, H., Hadhud, M., Rips, J., Hinds, D. M., Fischer, A. J., Bartlett, J. A., McCray, P. B., Qawasmi, N., Nathan, N., Louvrier, C., Desroziers, T., Damme, M., Griese, M., Wegner, D. J., Cole, F. S., Wambach, J. A., Wheeler, M. T., Burbelo, P. D. & Bonner, D. E. & 335 others, Tran, A. A., Tarakad, A., Balasubramanyam, A., Lee, B. H., Bacino, C. A., Scott, D. A., Seto, E., Clark, G. D., Dai, H., Chao, H. T., Chinn, I., Orengo, J. P., Posey, J. E., Rosenfeld, J. A., Worley, K., Burrage, L. C., Emrick, L. T., Potocki, L., Hubshman, M. W., Lewis, R. A., Marom, R., Lalani, S. R., Ketkar, S., Vogel, T. P., Craigen, W. J., Sninsky, J., Blieden, L., Nagamani, S., Bellen, H. J., Wangler, M. F., Kanca, O., Yamamoto, S., Eng, C. M., Ward, P. A., Liu, P., Vanderver, A., Skraban, C., Behrens, E., Kilich, G., Sullivan, K., Hassey, K., Rajagopalan, R., Ganetzky, R., Cuddapah, V., Raper, A., Rader, D. J., Sirugo, G., Jobanputra, V., McConkie-Rosell, A., Schoch, K., Mikati, M., Walley, N. M., Spillmann, R. C., Shashi, V., Beggs, A. H., MacRae, C. A., Sweetser, D. A., Rao, D. A., Silverman, E. K., Fieg, E. L., High, F., Berry, G. T., Holm, I. A., Pallais, J. C., Stoler, J. M., Loscalzo, J., Rodan, L. H., Cobban, L. A., Briere, L. C., Coggins, M., Walker, M., Maas, R. L., Korrick, S., Douglas, J., Esteves, C., Glanton, E., Kohane, I. S., LeBlanc, K., Mahoney, R., Sunyaev, S. R., Kobren, S. N., Graham, B. H., Conboy, E., Vetrini, F., Treat, K. M., Liaqat, K., Mantcheva, L., Ware, S. M., Mitchell, B., Lanpher, B. C., Oglesbee, D., Klee, E., Pinto e Vairo, F., Lanza, I. R., Darr, K., Mulvihill, L., Schimmenti, L., Tan, Q., Dasari, S., Elkadri, A., Bordini, B., Basel, D., Verbsky, J., McCarrier, J., Muriello, M., Zimmermann, M., Rebelo, A., Smith, C. A., Barbouth, D., Bademci, G., Gonzalez, J. M., Latchman, K., Peart, L., Tekin, M., Borja, N., Zuchner, S., Bivona, S., Thorson, W., Taylor, H., Quarells, R. C., Iverson, A., Gelb, B., Cunningham-Rundles, C., Gayle, E., Jen, J., Bier, L., Barbosa, M., Balwani, M., Shadrina, M., Evard, R., Shuman, S., Shin, S., Gropman, A., Pusey Swerdzewski, B. N., Toro, C., Wahl, C. E., Novacic, D., Macnamara, E. F., Mulvihill, J. J., Acosta, M. T., D'Souza, P., Maduro, V. V., Afzali, B., Solomon, B., Tifft, C. J., Adams, D. R., Burke, E. A., Rossignol, F., Wood, H., Fu, J., Davis, J., Petcharet, L., Wolfe, L. A., Delgado, M., Morimoto, M., Sabaii, M., Malicdan, M. C. V., Hanchard, N., Jean-Marie, O., Introne, W., Gahl, W. A., Huang, Y., Stergachis, A., Miller, D., Rosenthal, E., Blue, E., Balton, E., Shelkowitz, E., Allenspach, E., Hisama, F. M., Jarvik, G. P., Mirzaa, G., Glass, I., Leppig, K. A., Dipple, K., Wener, M., Horike-Pyne, M., Bamshad, M., Byers, P., Kumar, R., Perlman, S., Chanprasert, S., Sybert, V., Raskind, W., Dargie, N. K., Chan, C. H., Bustos Velasq, D. F., Ward, I., Schend, J., Morgan, J., Bell, M., Leitheiser, M., Saifeddine, M., Berger, P., Li, R., Beagle, T., Miller, A., Anguiano, B., Martin, B. A., Tucker, B., Reuter, C. M., Bonner, D., Kravets, E., Mendez, H. R., Tabor, H. K., Sampson, J. B., Hom, J., Kohler, J. N., Schymick, J., Gorzynski, J. E., Bernstein, J. A., Smith, K. S., Keehan, L., Wiel, L., Wheeler, M. T., Halley, M. C., Levanto, M., Goddard, P. C., Fisher, P. G., Ungar, R. A., Alvarez, R. L., Emami, S., Marwaha, S., Montgomery, S. B., Bachir, S., Jensen, T. D., Maurer, T., Coakley, T. R., Ashley, E. A., Al-Beshri, A., Hurst, A., Wilk, B. M., Korf, B., Worthey, E. A., Callaway, K., Rodriguez, M., Skelton, T., Mamidi, T. K. K., Crouse, A. B., Whitlock, J., Nakano-Okuno, M., Might, M., Byrd, W. E., La Spada, A. R., Xiao, C., Chao, E. C., Vilain, E., Abdenur, J., Blanco, K., Steenari, M. R., Barrick, R., Chang, R., Attaripour, S., Sandmeyer, S., Mozaffar, T., Huang, A., Vargas, A., Russell, B. E., Fogel, B. L., Dell'Angelica, E. C., Carvalho, G., Martínez-Agosto, J. A., Abi Farraj, L. F., Butte, M. J., Martin, M. G., Dorrani, N., Parker, N. H., Corona, R. I., Nelson, S. F., Karasozen, Y., Quinlan, A., Ward, A., Andrews, A., Welt, C. K., Viskochil, D., Baldwin, E. E., Carey, J., Alvey, J., Pace, L., Botto, L., Longo, N., Moretti, P., Overbury, R., Butterfield, R., Boyden, S., Nicholas, T. J., Velinder, M., Marth, G., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Corner, B., Phillips, J. A., Ezell, K., Rives, L., Hamid, R., Neumann, S., McMinn, A., Cogan, J. D., Cassini, T., Paul, A., Kiley, D., Wegner, D., McRoy, E., Wambach, J., Sisco, K., Dickson, P., Cole, F. S., Baldridge, D., Shin, J., Solnica-Krezel, L., Pak, S. C., Schedl, T., Bale, A., Oladele, C., Hendry, C., Wang, E., Xu, H., Zhang, H., Jeffries, L., Ortuño Romero, M. J., Gerstein, M., Spencer-Manzon, M., Lek, M., Derar, N., Kaufman, O., Mane, S., Serrano, T. J., Vasiliou, V., Halstead, W., Jiang, Y. H., Bernstein, J. A., Chiorini, J. A., Breuer, O. & Milla, C., Apr 2026, In: Genetics in Medicine. 28, 4, 102531.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      2   Link opens in a new tab Scopus citations

    • Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

      Undiagnosed Diseases Network, Stewart, R., Ezell, K. M., Bell, D. S., Corner, B., McMinn, A., Cogan, J. D., Hamid, R., Rives, L., Phillips, J. A., Paddu, N., Srivastava, G., Marom, R., Ladha, F. A., Soler-Alfonso, C., Franciskovich, R., Koziura, M., Pruthi, S., Richard, G. & Sheedy, C. B. & 181 others, Quinlan, A., Elkadri, A., Vanderver, A., Rebelo, A., Beggs, A. H., La Spada, A. R., Huang, A., Paul, A., Miller, A., Al-Beshri, A., Ward, A., Bale, A., McConkie-Rosell, A., Tran, A. A., Gropman, A., Vargas, A., Crouse, A. B., Stergachis, A., Hurst, A., Raper, A., Tarakad, A., Andrews, A., McMinn, A., Balasubramanyam, A., Pusey Swerdzewski, B. N., Anguiano, B., Solomon, B., Martin, B. A., Russell, B. E., Wilk, B. M., Mitchell, B., Lanpher, B. C., Lee, B. H., Fogel, B. L., Bordini, B., Graham, B. H., Corner, B., Tucker, B., Korf, B., MacRae, C. A., Toro, C., Skraban, C., Bacino, C. A., Oladele, C., Hendry, C., Smith, C. A., Esteves, C., Xiao, C., Reuter, C. M., Eng, C. M., Chan, C. H., Wahl, C. E., Welt, C. K., Tifft, C. J., Kiley, D., Rader, D. J., Wegner, D., Miller, D., Scott, D. A., Viskochil, D., Sweetser, D. A., Adams, D. R., Barbouth, D., Rao, D. A., Oglesbee, D., Bonner, D., Basel, D., Novacic, D., Baldridge, D., Behrens, E., Silverman, E. K., Seto, E., Kravets, E., Rosenthal, E., Worthey, E. A., Burke, E. A., Blue, E., Chao, E. C., Fieg, E. L., Macnamara, E. F., Balton, E., Glanton, E., Shelkowitz, E., Wang, E., Allenspach, E., Klee, E., Vilain, E., Conboy, E., Baldwin, E. E., McRoy, E., Dell’Angelica, E. C., Ashley, E. A., Cole, F. S., Pinto, F., High, F., Vetrini, F., Rossignol, F., Bustos, F., Hisama, F. M., Marth, G., Jarvik, G. P., Clark, G. D., Carvalho, G., Berry, G. T., Mirzaa, G., Sirugo, G., Kilich, G., Bademci, G., Mendez, H. R., Wood, H., Taylor, H., Tabor, H. K., Dai, H., Chao, H. T., Xu, H., Bellen, H. J., Zhang, H., Glass, I., Lanza, I. R., Holm, I. A., Kohane, I. S., Ward, I., Chinn, I., Pallais, J. C., Sampson, J. B., Orengo, J. P., Verbsky, J., Sninsky, J., Hom, J., Schend, J., Kohler, J. N., Posey, J. E., Morgan, J., Schymick, J., Wambach, J., Douglas, J., Fu, J., Rosenfeld, J. A., Shin, J., Stoler, J. M., Gonzalez, J. M., Phillips, J. A., Carey, J., Gorzynski, J. E., Mulvihill, J. J., Davis, J., Bernstein, J. A., Whitlock, J., Abdenur, J., Loscalzo, J., Cogan, J. D., Martínez-Agosto, J. A., McCarrier, J., Alvey, J., Darr, K., Callaway, K., Leppig, K. A., Sullivan, K., Sisco, K., Singh, K., Dipple, K., Treat, K. M., Hassey, K., Schoch, K., Smith, K. S., Liaqat, K., Worley, K., Ezell, K., LeBlanc, K., Latchman, K., Rodan, L. H., Keehan, L., Pace, L., Cobban, L. A., Blieden, L., Briere, L. C., Jeffries, L., Solnica-Krezel, L., Dickson, P., Pak, S. & Schedl, T., Jan 2026, In: American Journal of Medical Genetics, Part A. 200, 1, p. 205-214 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access

    • DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade

      Undiagnosed Diseases Network, Feb 2026, In: ACR Open Rheumatology. 8, 2, e70184.

      Research output: Contribution to journal › Article › peer-review

      Open Access

    • Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant

      Wambach, J. A., Cole, F. S. & Nogee, L. M., Jun 2026, In: Clinics in Perinatology. 53, 2, p. 381-401 21 p.

      Research output: Contribution to journal › Review article › peer-review

    View all 179 Research outputs