Jennifer Wambach

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Jennifer Wambach

Associate Professor of Pediatrics

 https://orcid.org/0000-0002-9299-0499
    • 2848
      Citations
    1999 …2025

    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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    • Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

      Undiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.

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

      Open Access

    • Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5

      Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.

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

    • Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy

      The Undiagnosed Diseases Network, Jan 2025, In: American Journal of Medical Genetics, Part A. 197, 1, e63854.

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

    • A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

      Undiagnosed Diseases Network, Paul, M. S., Michener, S. L., Pan, H., Chan, H., Pfliger, J. M., Rosenfeld, J. A., Lerma, V. C., Tran, A., Longley, M. A., Lewis, R. A., Weisz-Hubshman, M., Bekheirnia, M. R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K. & Mangold, E. & 181 others, Peters, S., Trautmann, J., Mester, J. L., Guillen Sacoto, M. J., Person, R., McDonnell, P. P., Cohen, S. R., Lusk, L., Cohen, A. S. A., Le Pichon, J. B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A. S., Koh, H. Y., Poduri, A., Bolton, J., Knopp, C., Julia Suh, D. S., Maier, A., Toosi, M. B., Karimiani, E. G., Maroofian, R., Schaefer, G. B., Ramakumaran, V., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I. E., Carvill, G. L., Mefford, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.

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

      Open Access
      5 Scopus citations

    • Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

      Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L. & Cohen, S. & 183 others, Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Borras, S., Clark, C., Dean, J., Miedzybrodzka, Z., Ross, A., Tennant, S., Dabir, T., Donnelly, D., Humphreys, M., Magee, A., McConnell, V., McKee, S., McNerlan, S., Morrison, P. J., Rea, G., Stewart, F., Cole, T., Cooper, N., Cooper-Charles, L., Cox, H., Islam, L., Jarvis, J., Keelagher, R., Lim, D., McMullan, D., Morton, J., Naik, S., O'Driscoll, M., Ong, K. R., Osio, D., Ragge, N., Turton, S., Vogt, J., Williams, D., Bodek, S., Donaldson, A., Hills, A., Low, K., Newbury-Ecob, R., Norman, A. M., Roberts, E., Scurr, I., Smithson, S., Tooley, M., Abbs, S., Armstrong, R., Dunn, C., Holden, S., Park, S. M., Paterson, J., Raymond, L., Reid, E., Sandford, R., Simonic, I., Tischkowitz, M., Woods, G., Bradley, L., Comerford, J., Green, A., Lynch, S., McQuaid, S., Mullaney, B., Berg, J., Goudie, D., Mavrak, E., McLean, J., McWilliam, C., Reavey, E., Azam, T., Cleary, E., Jackson, A., Lam, W., Lampe, A., Moore, D., Porteous, M., Baple, E., Baptista, J., Brewer, C., Castle, B., Kivuva, E., Owens, M., Rankin, J., Shaw-Smith, C., Turner, C., Turnpenny, P., Tysoe, C., Bradley, T., Davidson, R., Gardiner, C., Joss, S., Kinning, E., Longman, C., McGowan, R., Murday, V., Pilz, D., Tobias, E., Whiteford, M., Williams, N., Barnicoat, A., Clement, E., Faravelli, F., Hurst, J., Jenkins, L., Jones, W., Ajith Kumar, V. K., Lees, M., Loughlin, S., Male, A., Morrogh, D., Rosser, E., Scott, R., Wilson, L., Beleza, A., Deshpande, C., Flinter, F., Holder, M., Irving, M., Izatt, L., Mohammed, S., Molenda, A., Robert, L., Roworth, W., Ruddy, D., Ryten, M., Yau, S., Bennett, C., Blyth, M., Campbell, J., Coates, A., Dobbie, A., Hewitt, S., Hobson, E., Jackson, E., Jewell, R., Kraus, A., Prescott, K., Sheridan, E., Thomson, J., Bradshaw, K., Dixit, A., Eason, J., Haines, R., Harrison, R., Mutch, S., Sarkar, A., Searle, C., Shannon, N., Sharif, A., Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Feb 2024, In: Genetics in Medicine. 26, 2, 101023.

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

      Open Access
      1 Scopus citations
    View all 154 Research outputs