Below are the most recent publications written about "Intellectual Disability" by people in Profiles.
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Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.
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Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.
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Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. Am J Hum Genet. 2020 09 03; 107(3):564-574.
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Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020 09 03; 107(3):544-554.
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Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
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Sánchez Fernández I, Abend NS, Amengual-Gual M, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein J, Goodkin HP, Guerriero RM, Lai YC, McDonough T, Mikati MA, Morgan LA, Novotny E, Payne E, Peariso K, Piantino J, Ostendorf A, Sands TT, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T. Association of guideline publication and delays to treatment in pediatric status epilepticus. Neurology. 2020 09 01; 95(9):e1222-e1235.
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Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
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Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376.
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Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437.
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Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31.