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Filippo Pinto e Vairo

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Filippo Pinto e Vairo, MD, PhD

20112026

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  • Advancing Pulmonary Fibrosis Care

    del Valle, K. T., Kolbert, K. J., Sikkink, K. J., Gill, C. E., Kemppainen, J. L., LeMahieu, A. M., Alarcon-Calderon, A. D., Pennington, K. M., Kennedy, C. C., Limper, A. H., Ferrer, A., Mangaonkar, A. A., Murphy Carmona, D. J., Whalen, D. A., Baqir, M., Kelm, D. J., Zamora, A. C., Patnaik, M. S., Ortega, V. E. & Pinto e Vairo, F. & 1 others, Carmona, E. M., 2026, (Accepted/In press) In: Mayo Clinic proceedings.

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

  • A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies

    Hussain, H. M. J., Zimmermann, M., Safgren, S. L., Farris, J. D., Panwar, D., Thurman, S. A., Muthusamy, K., Urrutia, R. A., Wick, M. J., e Vairo, F. P. & Klee, E. W., 2026, (Accepted/In press) In: Clinical Genetics.

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

  • A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review

    Tan, J. W., Wilke, M. V. M. B., Panwar, D., Kahn, E. S., Figueiral, M., Dikilitas, O., Xiao, Y., Sas, D. J., Lanpher, B. C., Pinto e Vairo, F. & Klee, E. W., Oct 2026, In: Clinical Genetics. 110, 4, p. 496-501 6 p.

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

    Open Access

  • 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

  • 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, 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
View all 166 Research outputs