2024
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Semler, O., Cormier-Daire, V., Lausch, E., Bober, M. B., Carroll, R., Sousa, S. B., Deyle, D., Faden, M., Hartmann, G., Huser, A. J., Legare, J. M., Mohnike, K., Rohrer, T. R., Rutsch, F., Smith, P., Travessa, A. M., Verardo, A., White, K. K., Wilcox, W. R., & Hoover-Fong, J. (2024). Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. Advances in therapy, 41(1), 198–214. https://doi.org/10.1007/s12325-023-02705-9
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Hajewski, J., Hrabik, L., Stelter, C., & Harris, A. (2024). Transition Practices in Wisconsin Health Care Systems: What Do We Know? WMJ. 2024;123(4):E1-E4. Published online in advance August 19, 2024.
2023
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Morgan, E., Winters, I., King, C., Shaw, B., Burns, J., Stahmer, A., Chödrön, G. (2023). Paths to equity: Parents in partnership with UCEDDs fostering Black family advocacy for children on the autism spectrum. Developmental Disabilities Network Journal, 3(1):6-29.
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Nahm, N. J., Mackenzie, W. G. S., Mackenzie, W. G., Gough, E., Hashmi, S. S., Hecht, J. T., Legare, J. M., Little, M. E., Modaff, P., Pauli, R. M., Rodriguez-Buritica, D. F., Serna, M. E., Smid, C. J., Hoover-Fong, J., & Bober, M. B. (2023). Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers. Orphanet journal of rare diseases, 18(1), 139. https://doi.org/10.1186/s13023-023-02738-x
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Legare, J. M., & Basel, D. (2023). What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer. Frontiers in pediatrics, 11, 1229666. https://doi.org/10.3389/fped.2023.1229666
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Savarirayan, R., Hoernschemeyer, D. G., Ljungberg, M., Zarate, Y. A., Bacino, C. A., Bober, M. B., Legare, J. M., Högler, W., Quattrin, T., Abuzzahab, M. J., Hofman, P. L., White, K. K., Ma, N. S., Schnabel, D., Sousa, S. B., Mao, M., Smith, A., Chakraborty, M., Giwa, A., Winding, B., … McDonnell, C. (2023). Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial. EClinicalMedicine, 65, 102258. https://doi.org/10.1016/j.eclinm.2023.102258
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Matabele, M. N., Kille, T. L., Gorelik, M., Van Beek-King, J., Legare, J. M., Stadler, J. A., 3rd, Iskandar, B. J., Wheeler, B. J., & Puricelli, M. D. (2023). Intraoperative neural monitoring during head and neck surgery in patients with concern for cervical spine instability. International journal of pediatric otorhinolaryngology, 175, 111749. https://doi.org/10.1016/j.ijporl.2023.111749
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Campbell, J., Legare, J. M., Piatt, J., Gough, E., Pauli, R. M., Hashmi, S. S., Rodriguez-Buritica, D. F., Modaff, P., Little, M. E., Serna, M. E., Smid, C. J., Dujmusic, L., Hecht, J. T., Hoover-Fong, J. E., & Bober, M. B. (2023). Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers. Journal of neurosurgery. Pediatrics, 32(6), 649–656. https://doi.org/10.3171/2023.7.PEDS2354
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Hickey, Emily J. PhD; Whitehead, Amy D. MPA; Weingarten, Rachel BS; and Smith DaWalt, Leann PhD (2023). Reaching Consensus on the Future Direction of a Resource Center within a UCEDD: A Quality Improvement Delphi Project. Developmental Disabilities Network Journal: Vol. 3: Iss. 2, Article 6. DOI: 10.59620/2694-1104.1058.
2022
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Lee, C. E., Burke, M. M., DaWalt, L. S., Li, C., & Taylor, J. L. (2022). The role of parental advocacy in addressing service disparities for transition-aged youth on the autism spectrum. Autism: the international journal of research and practice, 26(4), 1001–1006. https://doi.org/10.1177/13623613211057660
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Taylor JL, Pezzimenti F, Burke MM, DaWalt LS, Lee CE, Rabideau C. Development, Feasibility, and Acceptability of a Nationally Relevant Parent Training to Improve Service Access During the Transition to Adulthood for Youth with ASD. J Autism Dev Disord. 2022 Jun;52(6):2388-2399. doi: 10.1007/s10803-021-05128-z. Epub 2021 Jul 7. PMID: 34232419; PMCID: PMC8262127.
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Kristensen, K., Lorenz, K. M., Zhou, X., Piro-Gambetti, B., Hartley, S. L., Godar, S. P., Diel, S., Neubauer, E., & Litovsky, R. Y. (2022). Language and executive functioning in young adults with Down syndrome. Journal of intellectual disability research : JIDR, 66(1-2), 151–161. https://doi.org/10.1111/jir.12868
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Smith, J. D., Nidey, N., Chödrön, G. S., Czyzia, J., Donahue, M. L., Ford, K., James, C., Klimova, O., Macias, M. M., Rabidoux, P., Whitaker, T. M., & Brosco, J. P. (2022). A Quality Improvement Network for Interdisciplinary Training in Developmental Disabilities. Pediatrics, 150(6), e2022058236. https://doi.org/10.1542/peds.2022-058236
2021
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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
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Zoran S, Turcott C, Whitehead A, Hrabik L, Harris A, Scott Schwoerer J. Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience. WMJ. 2021 Oct;120(3):218-221. PMID: 34710304. https://pubmed.ncbi.nlm.nih.gov/34710304/
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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
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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
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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
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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
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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
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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
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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
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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
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Hong J, DaWalt L, Baker MW, Berry-Kravis EM, Mailick MR. Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults. Front Psychiatry. 2021 Aug 11;12:727085. doi: 10.3389/fpsyt.2021.727085. PMID: 34456771; PMCID: PMC8385267. https://doi.org/10.3389/fpsyt.2021.727085
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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
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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
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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. Volume 129, July 2021, 105266 https://doi.org/10.1016/j.psyneuen.2021.105266
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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
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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
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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
2020
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Smid, C. J., Legare, J. M., Modaff, P., & Pauli, R. M. (2020). Apparently benign craniocervical signs in achondroplasia: “neurologic leftovers” identified through a retrospective dataset. Orphanet journal of rare diseases, 15(1), 301. https://doi.org/10.1186/s13023-020-01584-5
2019
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Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, Hussa C, Obernolte L, Reineking B, Roberts AM, Yannicelli S, Osara Y, Stembridge A, Splett P, Singh RH. (2019). Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Molecular Genetics and Metabolism, 126(4):341-354. doi: 10.1016/j.ymgme.2019.02.007.
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Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. (2019). De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. American Journal of Human Genetics, 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002.
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Chödrön, G., K. Pizur-Barnekow, S. Viehweg, A. Puk-Ament, B. Barger. (2021). Childcare providers’ attitudes, knowledge, and practice related to developmental monitoring to promote early identification and referral. Early Child Development and Care, 191(4): 520-534. DOI: 10.1080/03004430.2019.1626373
2018
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Farley M, Cottle KJ, Bilder D, Viskochil J, Coon H, McMahon W. (2018). Mid-life social outcomes for a population-based sample of adults with ASD. Autism Research, 11(1):142-152.
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Schwoerer JS, Drilias N, Kuhl A, Mochal S, Baker M. (2018). Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. Molecular Genetics and Metabolism Reports, 8;15:75-77.
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Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, Kurzius-Spencer M, Zahorodny W, Robinson Rosenberg C, White T, Durkin MS, Imm P, Nikolaou L, Yeargin-Allsopp M, Lee LC, Harrington R, Lopez M, Fitzgerald RT, Hewitt A, Pettygrove S, Constantino JN, Vehorn A, Shenouda J, Hall-Lande J, Van Naarden Braun K, Dowling NF. (2018). Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. MMWR Surveillance Summaries, 27;67(6):1-23.
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Rubenstein E, Daniels J, Schieve LA, Christensen DL, Van Naarden Braun K, Rice CE, Bakian AV, Durkin MS, Rosenberg SA, Kirby RS, Lee LC. (2018). Trends in Special Education Eligibility Among Children With Autism Spectrum Disorder, 2002-2010. Public Health Reports, 133(1):85-92.
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Krieger M, Agather A, Douglass K, Reiser CA, Petty EM. (2018). Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective. Journal of Genetic Counseling, 27(3):565-573. doi: 10.1007/s10897-017-0153-0.
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Lalani SJ, Duffield TC, Trontel HG, Bigler ED, Abildskov TJ, Froehlich A, Prigge MBD, Travers BG, Anderson JS, Zielinski BA, Alexander A, Lange N, Lainhart JE. (2018). Auditory attention in autism spectrum disorder: An exploration of volumetric magnetic resonance imaging findings. Journal of Clinical and Experimental Neuropsychology, 40(5):502-517. doi: 10.1080/13803395.2017.1373746.
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Rust L, Adamsheck H, Reiser CA, Petty EM. (2018). Counseling Close to Home: Genetic Counselors’ Experiences with their own Family Members. Journal of Genetic Counseling, 27(1):225-240. doi: 10.1007/s10897-017-0138-z.
2017
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Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. (2017). Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. American Journal of Medical Genetics A, 173(4):1097-1101.
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Asmus JM, Carter EW, Moss CK, Biggs EE, Bolt DM, Born TL, Bottema-Beutel K, Brock ME, Cattey GN, Cooney M, Fesperman ES, Hochman JM, Huber HB, Lequia JL, Lyons GL, Vincent LB & Weir K. (2017). Efficacy and Social Validity of Peer Network Interventions For High School Students with Severe Disabilities. American Journal on Intellectual and Developmental Disabilities, 122(2):118-137.
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Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J. (2017). Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genetics in Medicine, 19(3):352-356.
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Esbensen A, MacLean WE Jr. (2017). Down syndrome. In M. L. Wehmeyer, I. Brown, M. Percy, K.A. Shogren, & A. Fung (Eds.), A comprehensive guide to intellectual and developmental disabilities (2nd ed., pp.195-208). Baltimore: Brookes.
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Reidy PF, Kristensen K, Winn MB, Litovsky RY, Edwards JR. (2017). The acoustics of word-initial fricatives and their effect on word-level intelligibility in children with bilateral cochlear implants. Ear & Hearing, 38(1):42-56.
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Travers BG, Bigler ED, Duffield TC, Prigge MD, Froehlich AL, Lange N, Alexander AL, Lainhart JE. (2017). Longitudinal development of manual motor ability in autism spectrum disorder from childhood to mid-adulthood relates to adaptive daily living skills. Developmental Science, 20(4).
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Durkin MS, Maenner MJ, Baio J, Christensen D, Daniels J, Fitzgerald R, Imm P, Lee LC, Schieve LA, Van Naarden Braun K, Wingate MS, Yeargin-Allsopp M. (2017). Autism Spectrum Disorder Among US Children (2002-2010): Socioeconomic, Racial, and Ethnic Disparities. American Journal of Public Health, 107(11):1818-1826.
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Pedersen AL, Pettygrove S, Lu Z, Andrews J, Meaney FJ, Kurzius-Spencer M, Lee LC, Durkin MS, Cunniff C. (2017). DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder. Child Psychiatry & Human Development, 48(4):537-545.
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Soke GN, Rosenberg SA, Hamman RF, Fingerlin T, Rosenberg CR, Carpenter L, Lee LC, Giarelli E, Wiggins LD, Durkin MS, Reynolds A, DiGuiseppi C. (2017). Factors Associated with Self-Injurious Behaviors in Children with Autism Spectrum Disorder: Findings from Two Large National Samples. Journal of Autism and Developmental Disorders, 47(2):285-296.
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Ausderau KK, Dammann C, McManus K, Schneider M, Emborg ME, Schultz-Darken N. (2017). Cross-species comparison of behavioral neurodevelopmental milestones in the common marmoset monkey and human child. Developmental Psychobiology. 59(7):807-821. doi: 10.1002/dev.21545.
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Reynolds S, Glennon TJ, Ausderau K, Bendixen RM, Kuhaneck HM, Pfeiffer B, Watling R, Wilkinson K, Bodison SC. (2017). Using a Multifaceted Approach to Working With Children Who Have Differences in Sensory Processing and Integration. American Journal of Occupational Therapy. 71(2):7102360010p1-7102360010p10.
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Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 40(2):171-176. doi: 10.1007/s10545-016-9990-5.
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Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL. (2017). Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods. Journal of Nutrition and Metabolism, 2017;2017:6859820. doi: 10.1155/2017/6859820.
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van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM. (2017). Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD Reports, 35:87-96. doi: 10.1007/8904_2016_28.
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Agather A, Rietzler J, Reiser CA, Petty EM. (2017). Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives. Journal of Genetic Counseling, 26(6):1388-1400. doi: 10.1007/s10897-017-0117-4.
2016
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Roberts JE, McCary LM, Shinkareva SV, Bailey DB Jr. (2016). Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons. Journal of Autism and Developmental Disorders, 46(6):2088-99.
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George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. (2016). Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. American Journal of Human Genetics, 99(6):1388-1394.
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Hoch J, Spofford L, Dimian A, Tervo R, MacLean WE Jr, Symons FJ. (2016). A Direct Comparison of Self-Injurious and Stereotyped Motor Behavior Between Preschool-Aged Children With and Without Developmental Delays. Journal of Pediatric Psychology, 41(5):566-72.
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McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, Zhai S, Justice K, Cameron CA, Berry SA, Pena LD; Inborn Errors of Metabolism Collaborative. (2017). Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. Journal of Pediatrics, 180:200-205.e8.
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Balestrini S, Milh M, Castiglioni C, Luthy K, Finelli MJ, Verstreken P, Cardon A, Strazisar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Felix TM, Giuliano F, Hori M, Huning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, et al. (2016). TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features. Neurology, 5; 87(1):77-85.
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Stroup BM, Held PK, Williams P, Clayton MK, Murali SG, Rice GM, Ney DM. (2016). Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in subjects with phenylketonuria. Molecular Genetics and Metabolism Reports, 16;6:21-6.
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Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA. Thomas J, Dodge M, Singh R, Lakshman S, Coakley K, Stembridge A, Russi AS, Phillips E, Burton B, Edano C, Shrestha S, Hoganson G, Dwyer L, Hainline B, Romie S, Hainline S, Asamoah A, Goodin K, Rajakaruna C, Jackson K, Hamosh A, Vernon H, Smith N, Ahmad A, Lipinski S, Feldman G, Berry S, Elsbecker S, Font-Montgomery E, Peck D, Pena LD, Koeberl DD, Jiang YH, Kishnani PS, Rizzo W, Dawson M, Ambrose N, Levy P, Kronn D, Fong CT, D’Aco K, Hart T, Erbe R, Samons M, Leslie N, Powers R, Bartholomew D, Goff M, vanCalcar S, Hansen J, Arnold G, Vockley J, Walsh-Vockley C, Rhead W, Dimmock D, Engelking P, Bird C, Swan A, Schwoerer JS, et al. (Inborn Errors of Metabolism Collaborative.). (2016). 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Molecular and Genetic Metabolism, 119(1-2):75-82.
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Scott Schwoerer J, Van Calcar S, Rice GM, Deline J. (2016). Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. Molecular Genetics and Metabolism Reports, 8: 4–7.
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Legare JM, Modaff P, Iskandar BL, Pauli RM. (2016). Syringomyelia in hereditary multiple exostosis. American Journal of Medical Genetics A, 170(11):2956-2959.
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Cottle KJ, McMahon WM, Farley M. (2016). Adults with autism spectrum disorders: Past, present, and future. In S.D. Wright (Ed.), Autism spectrum disorder in mid and later life. (pp. 30-51). Philadelphia, PA: Jessica Kingsley Publishers.
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Dickerson AS, Rahbar MH, Bakian AV, Bilder DA, Harrington RA, Pettygrove S, Kirby RS, Durkin MS, Han I, Moyé LA 3rd, Pearson DA, Wingate MS, Zahorodny WM. (2016). Autism spectrum disorder prevalence and associations with air concentrations of lead, mercury, and arsenic. Environmental Monitoring and Assessment, 188(7):407.
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Jones KB, Cottle K, Bakian A, Farley M, Bilder D, Coon H, McMahon WM. (2016). A description of medical conditions in adults with autism spectrum disorder: A follow-up of the 1980s Utah/UCLA Autism Epidemiologic Study. Autism, 20(5):551-61.
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Roberts JE, Tonnsen BL, McCary LM, Caravella KE, Shinkareva SV. (2016) Brief Report: Autism Symptoms in Infants with Fragile X Syndrome. Journal of Autism and Developmental Disorders, 46(12):3830-3837.
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Ney DM, Stroup BM, Clayton MK, Murali SG, Rice GM, Rohr F, Levy HL. (2016). Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. American Journal of Clinical Nutrition, 104(2):334-45.
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Rice GM, Steiner RD. (2016). Inborn Errors of Metabolism (Metabolic Disorders). Pediatrics in Review. 37(1):3-17.
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Pena LD, Van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J. (2016). Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Molecular Genetics and Metabolism, 118(4):272-81.
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Durkin MS, Benedict RE, Christensen D, Dubois LA, Fitzgerald RT, Kirby RS, Maenner MJ, Van Naarden Braun K, Wingate MS, Yeargin-Allsopp M. (2016). Prevalence of Cerebral Palsy among 8-Year-Old Children in 2010 and Preliminary Evidence of Trends in Its Relationship to Low Birthweight. Paediatric and Perinatal Epidemiology, 30(5):496-510.
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Smith LE, Hong J, Greenberg JS, Mailick MR. (2016). Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment. Journal of Autism and Developmental Disorders, 46(5):1824-33.
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Agran M, MacLean WE Jr, Kitchen KA. (2016). “My Voice Counts, Too”: Voting Participation Among Individuals With Intellectual Disability. Journal of Intellectual and Developmental Disability, 54(4):285-94.
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Sieren S, Grow M, GoodSmith M, Spicer G, Deline J, Zhao Q, Lindstrom MJ, Harris AB, Rohan AM, Seroogy CM. (2016). Cross-Sectional Survey on Newborn Screening in Wisconsin Amish and Mennonite Communities. Journal of Community Health, 41(2):282-8.
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Christensen DL, Baio J, Braun KV, Bilder D, Charles J, Constantino JN, Daniels J, Durkin MS, Fitzgerald RT, Kurzius-Spencer M, Lee LC, Pettygrove S, Robinson C, Schulz E, Wells C, Wingate MS, Zahorodny W, Yeargin-Allsopp M. (2016). Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. MMWR Surveillance Summaries, 65(3):1-23.
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Seeliger EL, Martin RA, Gromoske AN, Harris AB. (2016). WIC Participation as a Risk Factor for Loss to Follow-Up in the Wisconsin EHDI System. The Journal of Early Hearing Detection and Intervention, 1(1) 57-65.
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Amos-Kroohs RM, Fink BA, Smith CJ, Chin L, Van Calcar SC, Wozniak JR, Smith SM. (2016). Abnormal Eating Behaviors Are Common in Children with Fetal Alcohol Spectrum Disorder. Journal of Pediatrics, 169:194-200.e1.
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Cikla U, Chanana V, Kintner DB, Covert L, Dewall T, Waldman A, Rowley P, Cengiz P, Ferrazzano P. (2016). Suppression of microglia activation after hypoxia-ischemia results in age-dependent improvements in neurologic injury. Journal of Neuroimmunology, 15;291:18-27.
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Durkin MS. (2016). Socio-economic disparities and functional limitations of children with cerebral palsy. Developmental Medicine & Child Neurology, 58(2):115.
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Woodman AC, Smith LE, Greenberg JS, Mailick MR. (2016). Contextual Factors Predict Patterns of Change in Functioning over 10 Years Among Adolescents and Adults with Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 46(1):176-89.
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Farmer CA, Kaat AJ, Mazurek MO, Lainhart JE, DeWitt MB, Cook EH, Butter EM, Aman MG. (2016). Confirmation of the Factor Structure and Measurement Invariance of the Children’s Scale of Hostility and Aggression: Reactive/Proactive in Clinic-Referred Children with and without Autism Spectrum Disorder. Journal of Child and Adolescent Psychopharmacology, 26(1):10-8.
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Christensen DL, Bilder DA, Zahorodny W, Pettygrove S, Durkin MS, Fitzgerald RT, Rice C, Kurzius-Spencer M, Baio J, Yeargin-Allsopp M. (2016). Prevalence and Characteristics of Autism Spectrum Disorder Among 4-Year-Old Children in the Autism and Developmental Disabilities Monitoring Network. Journal of Developmental and Behavioral Pediatrics, 37(1):1-8.
2015
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Durkin MS, Elsabbagh M, Barbaro J, Gladstone M, Happe F, Hoekstra RA, Lee LC, Rattazzi A, Stapel-Wax J, Stone WL, Tager-Flusberg H, Thurm A, Tomlinson M, Shih A. (2015). Autism screening and diagnosis in low resource settings: Challenges and opportunities to enhance research and services worldwide. Autism Research, 8(5):473-6.
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Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM. (2015). Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Human Mutation, 36(10):1004-8. doi: 10.1002/humu.22839.
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Kover ST, McCary LM, Ingram AM, Hatton DD, Roberts JE. (2015). Language development in infants and toddlers with fragile X syndrome: change over time and the role of attention. American Journal on Intellectual and Developmental Disabilities, 120(2):125-44.
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Annett RD, Hile S, Bedrick E, Kunin-Batson AS, Krull KR, Embry L, MacLean WE Jr., Noll RB. (2015). Neuropsychological functioning of children treated for acute lymphoblastic leukemia: impact of whole brain radiation therapy. Psychooncology, 24(2):181-9.
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Carter EW, Moss CK, Asmus J, Fesperman E, Cooney M, Brock ME, Huber HB, Vincent LB. (2015). Promoting Inclusion, social connections, and learning through peer support arrangements. Teaching Exceptional Children, 48, 9-18.
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Carter EW, Asmus J, Moss CK, Biggs EE, Bolt D, Born TL, Brock ME, Cattey G, Cheri R, Cooney M, Hochman JT, Huber HB, Lequia J, Lyons G, Riesch L, Shalev R, Vincent LB, Wiler K. (2015). Randomized evaluation of peer supports arrangement to support the inclusion of high school students with severe disabilities. Exceptional Children, 82(2) 209–233.
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Odom SL, Thompson JL, Hedges S, Boyd BA, Dykstra JR, Duda MA, Szidon KL, Smith LE, Bord A. (2015). Technology-Aided Interventions and Instruction for Adolescents with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 45(12):3805-19.
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Agran M, MacLean WE Jr, Andren KK. (2015). “I never thought about it.”: Teaching people with intellectual disability to vote. Education and Training in Autism and Developmental Disabilities, 50(4), 388-396
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Dickerson AS, Rahbar MH, Han I, Bakian AV, Bilder DA, Harrington RA, Pettygrove S, Durkin M, Kirby RS, Wingate MS, Tian LH, Zahorodny WM, Pearson DA, Moyé LA 3rd, Baio J. (2015). Autism spectrum disorder prevalence and proximity to industrial facilities releasing arsenic, lead or mercury. Science of the Total Environment, 536:245-51.
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Kemp JJ, Marquardt Westlake LL, Christensen RD, MacLean WE. (2015). Screening for Amblyogenic Factors in a Rural State: Implementing a Statewide Childhood Vision Project. Journal of Visual Impairment & Blindness, 109 (6) 507-511.
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Gabrielsen TP, Farley M, Speer L, Villalobos M, Baker CN, Miller J. (2015). Identifying autism in a brief observation. Pediatrics, 135(2):e330-8.
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Reiser C, LeRoy B, Grubs R, Walton C. (2015). Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors. Journal of Genetic Counseling, 24(5):689-701.
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Travers BG, Bigler ED, Tromp do PM, Adluru N, Destiche D, Samsin D, Froehlich A, Prigge MD, Duffield TC, Lange N, Alexander AL, Lainhart JE. (2015). Brainstem White Matter Predicts Individual Differences in Manual Motor Difficulties and Symptom Severity in Autism. Journal of Autism and Developmental Disorders, 45(9):3030-40.
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Nemeth BA, Montero RJ, Halanski MA, Noonan KJ. (2015). Epidural Baclofen for the Management of Postoperative Pain in Children With Cerebral Palsy. Journal of Pediatric Orthopaedics, 35(6):571-5.
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Durkin MS, Maenner MJ, Benedict RE, Van Naarden Braun K, Christensen D, Kirby RS, Wingate M, Yeargin-Allsopp M. (2015). The role of socio-economic status and perinatal factors in racial disparities in the risk of cerebral palsy. Developmental Medicine & Child Neurology, 57(9):835-43.
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Magnusson D, Palta M, McManus B, Benedict RE, Durkin MS. (2015). Capturing Unmet Therapy Need Among Young Children With Developmental Delay Using National Survey Data. Academic Pediatrics. In Press.
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Roberts JE, Tonnsen BL, McCary LM, Ford AL, Golden RN, Bailey DB Jr. (2015). Trajectory and Predictors of Depression and Anxiety Disorders in Mothers with the FMR1 Premutation. Biological Psychiatry, 79(10), 850-7. doi: 10.1016/j.biopsych.2015.07.015.
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Goffinski A, Stanley MA, Shepherd N, Duvall N, Jenkinson SB, Davis C, Bull MJ, Roper RJ. (2015). Obstructive sleep apnea in young infants with Down syndrome evaluated in a Down syndrome specialty clinic. American Journal of Medical Genetics Part A. 2015 Feb;167A(2):324-30. doi: 10.1002/ajmg.a.36903.
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Baer MT, Harris AB, Stanton RW, Haughton B. (2015). The future of MCH nutrition services: A commentary on the importance of supporting leadership training to strengthen the nutrition workforce. Maternal and Child Health Journal, 19(2):229-35. doi: 10.1007/s10995-014-1663-0.
2014
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Cengiz P, Kintner DB, Chanana V, Yuan H, Akture E, Kendigelen P, Begum G, Fidan E, Uluc K, Ferrazzano P, Sun D. (2014). Sustained Na+/H+ exchanger activation promotes gliotransmitter release from reactive hippocampal astrocytes following oxygen-glucose deprivation. PLoS One, 9(1):e84294. doi: 10.1371/journal.pone.0084294.
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Van Calcar SC, Bernstein LE, Rohr FJ, Yannicelli S, Berry GT, Scaman CH. (2014). Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. Journal of Agricultural and Food Chemistry, 12;62(6):1397-402. doi: 10.1021/jf404995a.
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Singh RH, Rohr F, Frazier D, Cunningham A, Mofidi S, Ogata B, Splett PL, Moseley K, Huntington K, Acosta PB, Vockley J, Van Calcar SC. (2014). Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genetics in Medicine, 16(2):121-31. doi: 10.1038/gim.2013.179
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Smith LE, Anderson KA. (2014). The Roles and Needs of Families of Adolescents with ASD. Remedial and Special Education, 1;35(2):114-122.
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Werts RL, Van Calcar SC, Wargowski DS, Smith SM. (2014). Inappropriate feeding behaviors and dietary intakes in children with fetal alcohol spectrum disorder or probable prenatal alcohol exposure. Alcoholism: Clinical and Experimental Research, 38(3):871-8. doi: 10.1111/acer.12284.
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Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. (2014). A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Molecular Genetics and Metabolism. 112(3):191-7. doi: 10.1016/j.ymgme.2014.04.004.
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Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. (2014). Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 5;384(9937):37-44. doi: 10.1016/S0140-6736(13)61841-3.
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Buck TR, Viskochil J, Farley M, Coon H, McMahon WM, Morgan J, Bilder DA. (2014). Psychiatric comorbidity and medication use in adults with autism spectrum disorder. Journal of Autism and Developmental Disorders, 44(12):3063-71. doi: 10.1007/s10803-014-2170-2.
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Kuhl A, Reiser C, Eickhoff J, Petty EM. (2014). Genetic counseling graduate student debt: impact on program, career and life choices. Journal of Genetic Counseling, 23(5):824-37. doi: 10.1007/s10897-014-9700-0.