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Page 1
CCL22 mutations drive natural killer cell lymphoproliferative disease by deregulating microenvironmental crosstalk.
Baer C, Kimura S, Rana MS, Kleist AB, Flerlage T, Feith DJ, Chockley P, Walter W, Meggendorfer M, Olson TL, Cheon H, Olson KC, Ratan A, Mueller ML, Foran JM, Janke LJ, Qu C, Porter SN, Pruett-Miller SM, Kalathur RC, Haferlach C, Kern W, Paietta E, Thomas PG, Babu MM, Loughran TP Jr, Iacobucci I, Haferlach T, Mullighan CG. Baer C, et al. Among authors: mueller ml. Nat Genet. 2022 May;54(5):637-648. doi: 10.1038/s41588-022-01059-2. Epub 2022 May 5. Nat Genet. 2022. PMID: 35513723 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Imaging unconscious semantic priming.
Dehaene S, Naccache L, Le Clec'H G, Koechlin E, Mueller M, Dehaene-Lambertz G, van de Moortele PF, Le Bihan D. Dehaene S, et al. Nature. 1998 Oct 8;395(6702):597-600. doi: 10.1038/26967. Nature. 1998. PMID: 9783584
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R; Genomics England Research Consortium; Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS. Macken WL, et al. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
31 results