Below are the most recent publications written about "Intellectual Disability" by people in Profiles.
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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.
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Casola AR, Mass JA, Rea OK, Hammell C, Stephens MM. Evaluating a Novel Disability Education and Awareness Event for Health Professions Trainees. Prog Community Health Partnersh. 2024; 18(2):259-265.
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Palatucci JS, Chakravarty S, Kratchman AL, Harris J, Pizzi LT, Coffield CN, Ibitamuno G, Spitalnik DM. Commentary: Determining Economic Factors That Matter to People With Intellectual and Developmental Disabilities and Their Caregivers: A Process Framework. Med Care. 2023 12 01; 61(12 Suppl 2):S104-S108.
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Kayumi S, P?rez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, Garc?a-Mi?a?r S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-M?guez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fern?ndez-Cuesta M?, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-Fran?ois L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.
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Asadi-Pooya AA, Farazdaghi M. Age at onset in patients with Lennox-Gastaut syndrome: Correlations with clinical manifestations. J Clin Neurosci. 2022 Jun; 100:138-142.
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Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genet Med. 2022 04; 24(4):880-893.
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Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Benevides TW, Tao S, Becker A, Verstreate K, Shea L. Occupational Therapy Service Delivery Among Medicaid-Enrolled Children and Adults on the Autism Spectrum and With Other Intellectual Disabilities. Am J Occup Ther. 2022 Jan 01; 76(1).
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Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. Mol Cell. 2022 01 06; 82(1):90-105.e13.