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Personal profile

Research interests

Lysosomal storage disorders and their treatment

Clinical interests

medical genetics, dysmorphology and inborn errors of metabolism.

Available to Mentor:

  • PhD Students

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Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • 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 journalArticlepeer-review

    Open Access
  • BioMedGraphica: an all-in-one platform for joint textual biomedical prior knowledge and numeric graph generation

    Zhang, H., Liang, S., Xu, T., Li, W., Huang, D., Dong, Y., Li, G., Miller, P., Goedegebuure, P., Sardiello, M., Cooper, J., Buchser, W., Dickson, P., Fields, R. C., Cruchaga, C., Chen, Y., Province, M., Payne, P. & Li, F., Jun 2026, In: Bioinformatics. 42, 6, btag355.

    Research output: Contribution to journalArticlepeer-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, 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 journalArticlepeer-review

    Open Access
  • Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges

    Muenzer, J., Dant, M., Dickson, P. I., Ellinwood, N. M., Fuller, M., Giugliani, R., Hemsley, K., Jones, S., Klein, T., Lampe, C., Mitchell, J., Muschol, N., O'Neill, C., Okuyama, T., Scarpa, M., Stewart, F., Stevens, B. & Stephens, K., Jun 2026, In: Molecular genetics and metabolism. 148, 2, 109911.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
  • Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis

    Kell, P., Mishra, S., D'Souza, P., Tifft, C. J., Dietzen, D. J., Lasio, L. D., Carson, J. P., Hong, X., Schiffmann, R., Ledesma, M. D., Tayebi, N., Dickson, P. I., Porter, F. D., Ory, D. S. & Jiang, X., Jul 2026, In: Molecular genetics and metabolism. 148, 3, 110159.

    Research output: Contribution to journalArticlepeer-review

    Open Access