Featured Publications

2022

2021

  • Durkin, M.S., Rubenstein, E., Ehrenthal, D.B., Mallinson, D.C., Bishop, L. Kuo, H.H. (2021) Birth outcomes affecting infants of mothers with intellectual and developmental disabilities. Paediatric Perinatal Epidemiology, 25(6), 706-716. https://doi.org/10.1111/ppe.12765

  • Durkin, M.S., Ellis Weismer, S., Tomblin, J.B., Bolt, D., Palta, M. (2021). A preliminary epidemiologic study of social (pragmatic) communication disorder in the context of developmental language disorder. International Journal of Language and Communication Disorders, 56(6), 1235-1248. https://doi.org/10.1111/1460-6984.12664

  • Durkin, M.S., Furnier, S.M., Baker, M.W. (2021). Correction: Furnier et al. Translating molecular technologies into routine newborn screening practice. Int. J. Neonatal Screen.2020, 6, 80. International Journal of Neonatal Screening, 7(4), 66. https://doi.org/10.3390/ijns7040066

  • Durkin, M.S., Shaw K.A., Maenner M.J., Bakian A.V., Bilder D.A., Furnier S.M., Hughes M.M., Patrick M., Pierce K., Salinas A., Shenouda J., Vehorn A., Warren Z., Zahorodny W., Constantino J.N., DiRienzo M., Esler A., Fitzgerald R.T., Grzybowski A., Hudson A., Spivey M.H., Ali A., Andrews J.G., Baroud T., Gutierrez J., Hallas L., Hall-Lande J., Hewitt A., Lee L.C., Lopez M., Mancilla K.C., McArthur D., Pettygrove S., Poynter J.N., Schwenk Y.D., Washington A., Williams S., Cogswell M.E. (2021). Early identification of autism spectrum disorder among children aged 4 years – autism and developmentaldisabilities monitoring network, 11 sites, United States, 2018. MMWR Surveillance Summaries, 70(10), 1-14. https://doi.org/10.15585/mmwr.ss7010a1

  • Kristensen, K., Lorenz, K.M., Zhou, X., Piro-Gambetti, B., Hartley, S.L., Godar, S.P., Diel, S., Neubauer, E., Litovsky, R.Y. (2021). Language and executive functioning in young adults with down syndrome. Journal of Intellectual Disability Research. https://doi.org/10.1111/jir.12868

  • Legare, J.M., Villegas, M.A., Okenfuss, E., Savarirayan, R., White, K., Hoover-Fong, J., Bober, M.B., Duker, A. (2021). Multidisciplinary care of neurosurgical patients with genetic syndromes. Neurosurgery Clinics of North America, 33(1), 7-15. https://doi.org/10.1016/j.nec.2021.09.002

  • Legare, J.M., Tunkel, D.E., Gough, E., Bober, M.B., Hashmi, S.S., Hecht, J.T., Little, M.E., Modaff, P., Pauli, R.M., Rodriguez-Buritica, D., Serna, M.E., Smid, C.J., Hoover-Fong, J.E. (2021). Otolaryngology utilization in patients with achondroplasia: Results from the CLARITY study. The Laryngoscope. https://doi.org/10.1002/lary.29915

  • Legare, J.M., Hoover-Fong, J.E., Alade, A.Y., Hashmi, S.S., Hecht, J.T., Little, M.E., Liu, C., McGready, J., Modaff, P., Pauli, R.M., Rodriguez-Buritica, D.F., Schulze, K.J., Serna, M.E., Smid, C.J., Bober, M.B. (2021). Achondroplasia natural history study (CLARITY): A multicenter retrospective cohort study of achondroplasia in the United States. Genetics in Medicine. https://doi.org/10.1038/s41436-021-01165-2

  • Modaff, P., Legare, J.M., Tunkel, D.E., Gough, E., Bober, M.B., Hashmi, S.S., Hecht, J.T., Little, M.E., Pauli, R.M., Rodriguez-Buritica, D., Serna, M.E., Smid, C.J., Hoover-Fong, J.E. (2021). Otolaryngology utilization in patients with achondroplasia: Results from the CLARITY study. The Laryngoscope. https://doi.org/10.1002/lary.29915

  • Modaff, P., Legare, J.M., Hoover-Fong, J.E., Alade, A.Y., Hashmi, S.S., Hecht, J.T., Little, M.E., Liu, C., McGready, J., Pauli, R.M., Rodriguez-Buritica, D.F., Schulze, K.J., Serna, M.E., Smid, C.J., Bober, M.B. (2021). Achondroplasia natural history study (CLARITY): A multicenter retrospective cohort study of achondroplasia in the United States. Genetics in Medicine. https://doi.org/10.1038/s41436-021-01165-2

  • Reiser, C., Birkeland, L., Redlinger-Grosse, K., Anderson, K., Zaleski, C. (2021). 6 feet apart but working together. Journal of Genetic Counseling, 30(4), 1069-1073. https://doi.org/10.1002/jgc4.1408

  • Scott Schwoerer, J., Harris, A., Zoran, S., Turcott, C., Whitehead, A., Hrabik, L. (2021). Rapid transition to telemedicine during the COVID-19 pandemic: Medical genetics experience. Wisconsin Medical Journal, 120(3), 218-221.

  • Smith DaWalt, L., Hickey, E., Hudock, R., Esler, A., Mailick, M. (2021). Impact of working together for adults with autism spectrum disorder: A multifamily group intervention. Journal of Neurodevelopmental Disorders, 13(1), 44. https://doi.org/10.1186/s11689-021-09395-w

  • DaWalt, L.S., Movaghar, A., Page, D., Scholze, D., Hong, J., Kuusisto, F., Stewart, R., Brilliant, M., Mailick, M. (2021). Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample. Genetics in Medicine 23(7), 1273-1280. https://doi.org/10.1038/s41436-021-01144-7

  • DaWalt, L.S., Fielding-Gebhardt, H., Fleming, K.K., Warren, S.F., Brady, N. (2021). Change in behavior problems from childhood through adolescence for children with fragile X syndrome. Journal of Autism and Developmental Disorders, 18, 1-11. https://doi.org/10.1007/s10803-021-05270-8

  • DaWalt, L.S., Taylor, J.L., Movaghar, A., Hong, J., Kim, B., Brilliant, M., Mailick, M.R. (2021). Health profiles of adults with autism spectrum disorder: Differences between women and men. Autism Research, 14(9), 1896-1904. https://doi.org/10.1002/aur.2563

  • DaWalt, L.S., Lee, C.E., Burke, M.M., Li, C., Taylor, J.L. (2021). The role of parental advocacy in addressing service disparities for transition-aged youth on the autism spectrum. Autism. https://doi.org/10.1177/13623613211057660

  • DaWalt, L.S., Taylor, J.L., Pezzimenti, F., Burke, M.M., Lee, C.E., Rabideau, C. (2021). Development, feasibility, and acceptability of a nationally relevant parent training to improve service access during the transition to adulthood for youth with ASD. Journal of Autism and Developmental Disorders, 1-12. https://doi.org/10.1007/s10803-021-05128-z

  • DaWalt, L.S., Hong, J., Kapoor, A., Maltman, N., Kim, B., Berry-Kravis, E.M., Almeida, D., Coe, C., Mailick, M. (2021). Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology, 129. https://doi.org/10.1016/j.psyneuen.2021.105266

  • DaWalt, L., Odom, S.L., Hall, L.J., Morin, K.L., Kraemer, B.R., Hume, K.A., McIntyre, N.S., Nowell, S.W., Steinbrenner, J.R., Tomaszewski, B., Sam, A.M. (2021). Educational interventions for children and youth with autism: A 40-year perspective. Journal of Autism and Developmental Disorders, 51(12), 4354-4369. https://doi.org/10.1007/s10803-021-04990-1

  • DaWalt, L., Mailick, M.R., Hong, J., Movaghar, A., Berry-Kravis, E.M., Brilliant, M.H., Boero, J., Todd, P.K., Hall, D. (2021). Mild neurological signs in FMR1 premutation women in an unselected community-based cohort. Journal of Movement Disorders, 36(10), 2378-2386. https://doi.org/10.1002/mds.28683

  • DaWalt, L., Hong, J., Baker, M.W., Berry-Kravis, E.M., Mailick, M.R. (2021). Is FMR1 CGG repeat number polymorphism associated with phenotypic variation in the general population? Report from a cohort of 5,499 adults. Frontiers in Psychiatry, 12. https://doi.org/10.3389/fpsyt.2021.727085

2020

  • Durkin, M., Ellis Weismer, S., Rubenstein, E., Wiggins, L. (2021). A preliminary epidemiologic study of social (pragmatic} communication disorder relative to autism spectrum disorder and developmental disability without social communication deficits. Journal of Autism and Developmental Disorders 51(8), 2686-2696. https://doi.org/10.1007/s10803-020-04737-4

2019

2018

2017

2016

2015

2014