Below are the most recent publications written about "Intellectual Disability" by people in Profiles.
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Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 Jun 13; 14(1):62.
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Tovy A, Reyes JM, Zhang L, Huang YH, Rosas C, Daquinag AC, Guzman A, Ramabadran R, Chen CW, Gu T, Gupta S, Ortinau L, Park D, Cox AR, Rau RE, Hartig SM, Kolonin MG, Goodell MA. Constitutive loss of DNMT3A causes morbid obesity through misregulation of adipogenesis. Elife. 2022 05 30; 11.
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Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442.
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Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108.
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Bertacchi M, Tocco C, Schaaf CP, Studer M. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 2022 04 08; 11(8).
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Tovy A, Rosas C, Gaikwad AS, Medrano G, Zhang L, Reyes JM, Huang YH, Arakawa T, Kurtz K, Conneely SE, Guzman AG, Aguilar R, Gao A, Chen CW, Kim JJ, Carter MT, Lasa-Aranzasti A, Valenzuela I, Van Maldergem L, Brunetti L, Hicks MJ, Marcogliese AN, Goodell MA, Rau RE. Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome. Haematologica. 2022 04 01; 107(4):887-898.
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Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. Am J Hum Genet. 2022 04 07; 109(4):571-586.
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Sharma S, Hourigan B, Patel Z, Rosenfeld JA, Chan KM, Wangler MF, Yi JS, Lehman A, Horvath G, Cloos PA, Tan Q. Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Hum Mutat. 2022 Jul; 43(7):889-899.
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Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Mol Genet Genomic Med. 2022 04; 10(4):e1900.
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Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel AL, Cappuccio G, Brunetti-Pierri N, Willems M, Isidor B, Park K, Balasubramanian M. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 05; 188(5):1497-1514.