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423 results

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: daniels b. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: daniels b. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Metabolic Resistance and Not Voltage-Gated Sodium Channel Gene Mutation Is Associated with Pyrethroid Resistance of Aedes albopictus (Skuse, 1894) from Cambodia.
Marcombe S, Doeurk B, Thammavong P, Veseli T, Heafield C, Mills MA, Kako S, Prado MF, Thomson S, Millett S, Hill T, Kentsley I, Davies S, Pathiraja G, Daniels B, Browne L, Nyamukanga M, Harvey J, Rubinstein L, Townsend C, Allen Z, Davey-Spence C, Hupi A, Jones AK, Boyer S. Marcombe S, et al. Among authors: daniels b. Insects. 2024 May 15;15(5):358. doi: 10.3390/insects15050358. Insects. 2024. PMID: 38786914 Free PMC article.
Neuronal DAMPs exacerbate neurodegeneration via astrocytic RIPK3 signaling.
Chang NP, DaPrano EM, Lindman M, Estevez I, Chou TW, Evans WR, Nissenbaum M, McCourt M, Alzate D, Atkins C, Kusnecov AW, Huda R, Daniels BP. Chang NP, et al. Among authors: daniels bp. JCI Insight. 2024 May 7:e177002. doi: 10.1172/jci.insight.177002. Online ahead of print. JCI Insight. 2024. PMID: 38713518 Free article.
Examination of eating competence in a geo-diverse sample with metabolic syndrome.
Lohse B, Nguyen B, Drees BM, Bailey-Davis L, Masters KS, Nicklas JM, Daniels BT, Ruder EH, Trabold N. Lohse B, et al. Among authors: daniels bt. Appetite. 2024 Aug 1;199:107373. doi: 10.1016/j.appet.2024.107373. Epub 2024 Apr 25. Appetite. 2024. PMID: 38677621 Free article. Clinical Trial.
423 results