Research Topics

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.

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

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.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

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

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

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

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Gabrielsen TP, Farley M, Speer L, Villalobos M, Baker CN, Miller J. (2015). Identifying autism in a brief observation. Pediatrics, 135(2):e330-8.

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.

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.

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.

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.

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.

Durkin MS. (2016). Socio-economic disparities and functional limitations of children with cerebral palsy.  Developmental Medicine & Child Neurology, 58(2):115.

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.

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.

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

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 (2^nd ed., pp.195-208). Baltimore: Brookes.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.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

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., 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

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.

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.

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.

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.

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.

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

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Legare JM, Modaff P, Iskandar BL, Pauli RM. (2016). Syringomyelia in hereditary multiple exostosis. American Journal of Medical Genetics A, 170(11):2956-2959.

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.

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.

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.

Rice GM, Steiner RD. (2016). Inborn Errors of Metabolism (Metabolic Disorders). Pediatrics in Review. 37(1):3-17.

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.

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.

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.

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.

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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