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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. Among authors: khokha mk. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Mao Y, Schneider R, van der Ven PFM, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler TM, Deutsch K, Nakayama M, Majmundar AJ, Mann N, Hermle T, Onuchic-Whitford AC, Zhou W, Margam NN, Duncan R, Marquez J, Khokha M, Fathy HM, Kari JA, El Desoky S, Eid LA, Awad HS, Al-Saffar M, Mane S, Lifton RP, Fürst DO, Shril S, Hildebrandt F. Mao Y, et al. Kidney Int Rep. 2020 Nov 10;6(2):472-483. doi: 10.1016/j.ekir.2020.10.040. eCollection 2021 Feb. Kidney Int Rep. 2020. PMID: 33615072 Free PMC article.
The genome of the Western clawed frog Xenopus tropicalis.
Hellsten U, Harland RM, Gilchrist MJ, Hendrix D, Jurka J, Kapitonov V, Ovcharenko I, Putnam NH, Shu S, Taher L, Blitz IL, Blumberg B, Dichmann DS, Dubchak I, Amaya E, Detter JC, Fletcher R, Gerhard DS, Goodstein D, Graves T, Grigoriev IV, Grimwood J, Kawashima T, Lindquist E, Lucas SM, Mead PE, Mitros T, Ogino H, Ohta Y, Poliakov AV, Pollet N, Robert J, Salamov A, Sater AK, Schmutz J, Terry A, Vize PD, Warren WC, Wells D, Wills A, Wilson RK, Zimmerman LB, Zorn AM, Grainger R, Grammer T, Khokha MK, Richardson PM, Rokhsar DS. Hellsten U, et al. Among authors: khokha mk. Science. 2010 Apr 30;328(5978):633-6. doi: 10.1126/science.1183670. Science. 2010. PMID: 20431018 Free PMC article.
The hitchhiker's guide to Xenopus genetics.
Abu-Daya A, Khokha MK, Zimmerman LB. Abu-Daya A, et al. Among authors: khokha mk. Genesis. 2012 Mar;50(3):164-75. doi: 10.1002/dvg.22007. Epub 2012 Feb 16. Genesis. 2012. PMID: 22344745 Free PMC article. Review.
CALHM2 is a mitochondrial protein import channel that regulates fatty acid metabolism.
Jonas E, Mnatsakanyan N, Rivera-Molina F, Robson A, Garfinkel AM, Kumar A, Batter S, Padovano V, Webster K, Cardone R, Berg J, Toomre D, Kibbey R 4th, Caplan M, Khokha M. Jonas E, et al. Res Sq [Preprint]. 2024 Sep 13:rs.3.rs-4985689. doi: 10.21203/rs.3.rs-4985689/v1. Res Sq. 2024. PMID: 39315269 Free PMC article. Preprint.
124 results