Jill Ann Fahrner

Assistant Professor

20002021

Research activity per year

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  • Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

    Care4Rare Consortium & Centers for Mendelian Genomics, Jan 2021, In: American Journal of Medical Genetics, Part A. 185, 1, p. 119-133 15 p.

    Research output: Contribution to journalArticlepeer-review

  • Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

    Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S. & 83 others, Bassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

    Research output: Contribution to journalArticlepeer-review

  • Acromegaly in the setting of Tatton-Brown-Rahman Syndrome

    Hage, C., Sabini, E., Alsharhan, H., Fahrner, J. A., Beckers, A., Daly, A. & Salvatori, R., Apr 1 2020, In: Pituitary. 23, 2, p. 167-170 4 p.

    Research output: Contribution to journalArticlepeer-review

  • Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Beck, D. B., Petracovici, A., He, C., Moore, H. W., Louie, R. J., Ansar, M., Douzgou, S., Sithambaram, S., Cottrell, T., Santos-Cortez, R. L. P., Prijoles, E. J., Bend, R., Keren, B., Mignot, C., Nougues, M. C., Õunap, K., Reimand, T., Pajusalu, S., Zahid, M., Saqib, M. A. N. & 12 others, Buratti, J., Seaby, E. G., McWalter, K., Telegrafi, A., Baldridge, D., Shinawi, M., Leal, S. M., Schaefer, G. B., Stevenson, R. E., Banka, S., Bonasio, R. & Fahrner, J. A., Feb 6 2020, In: American journal of human genetics. 106, 2, p. 234-245 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

    Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I. & 38 others, Iascone, M., Kaiser, A. S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S. & Hennekam, R. C., Dec 1 2020, In: Journal of Intellectual Disability Research. 64, 12, p. 956-969 14 p.

    Research output: Contribution to journalArticlepeer-review

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