Below are the most recent publications written about "Intellectual Disability" by people in Profiles.
-
van Eyk CL, Fahey MC, Gecz J. Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology. Nat Rev Neurol. 2023 09; 19(9):542-555.
-
Lewis SA, Shetty S, Gamble S, Heim J, Zhao N, Stitt G, Pankratz M, Mangum T, Marku I, Rosenberg RB, Wilfong AA, Fahey MC, Kim S, Myers SJ, Appavu B, Kruer MC. Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation. Orphanet J Rare Dis. 2023 08 03; 18(1):225.
-
Nicholson J, Mazel S, Faughnan K, Silverman A. Mothers with Intellectual/Developmental Disabilities and Behavioral Health Conditions and Community Experts Provide Recommendations for Treatment/Services, Systems, and Research. Int J Environ Res Public Health. 2023 05 19; 20(10).
-
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, K?ry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910.
-
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
-
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Qu?lin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Uma?a LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227.
-
Havercamp SM, Bonardi A. Special Issue Introduction: Addressing Healthcare Inequities in Intellectual Disability and Developmental Disabilities. Intellect Dev Disabil. 2022 Dec 01; 60(6):449-452.
-
Cooper MS, Fahey MC, Mackay MT. Making waves: The changing tide of cerebral palsy. J Paediatr Child Health. 2022 11; 58(11):1929-1934.
-
Charlot LR, Hodge SM, Holland AL, Frazier JA. Psychiatric diagnostic dilemmas among people with intellectual and developmental disabilities. J Intellect Disabil Res. 2022 10; 66(10):805-816.
-
Smith LD, Valentine A, Moore Simas TA, Parish SL, Levy A, Mitra M. Clinician-reported barriers to providing perinatal care to women with intellectual and developmental disabilities. J Intellect Dev Disabil. 2023; 48(1):12-22.