Below are the most recent publications written about "Intellectual Disability" by people in Profiles.
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Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K. 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel). 2025 Jan 24; 16(2).
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Nicholson J, Faughnan K, Silverman AF, Lesser V, Andresen ML, Bahr M, Corey T, Benevides TW, Pham H. Diverse perspectives on supporting the health and wellness of people with intellectual and developmental disabilities. Disabil Health J. 2025 07; 18(3):101775.
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Sternberg KF, Cloutier JG, Ahlers K, Moore C, Koth KA, Soda T, Malhi NK, Verma S, Yeh LC, McLaren JL. Exploring the Intersection of Gender Diversity and Intellectual Disability: A Scoping Review With a Focus on Clinical Care. J Appl Res Intellect Disabil. 2025 Jan; 38(1):e70010.
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Barnada SM, Giner de Gracia A, Morenilla-Palao C, L?pez-Cascales MT, Scopa C, Waltrich FJ, Mikkers HMM, Cicardi ME, Karlin J, Trotti D, Peterson KA, Brugmann SA, Santen GWE, McMahon SB, Herrera E, Trizzino M. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Am J Hum Genet. 2024 10 03; 111(10):2232-2252.
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Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. Am J Hum Genet. 2024 09 05; 111(9):1953-1969.
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Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir S, Arslan Ates E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S, Lin AE, Callewaert B. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. Eur J Hum Genet. 2024 09; 32(9):1086-1094.
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Stephens MM, Casola AR, Cooper ET, Rea O, Roseman K. Development and implementation of a continuing care program for patients with intellectual and developmental disabilities in family medicine. Fam Pract. 2024 06 12; 41(3):378-381.
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Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 10; 194(10):e63638.
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Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-W?dl S, Osmanovic D, Bj?rgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, H?bner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain. 2024 04 04; 147(4):1197-1205.
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Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review. Mol Genet Genomic Med. 2024 Apr; 12(4):e2435.