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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: mis ek. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. Marquez J, et al. Among authors: mis ek. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6. J Med Genet. 2021. PMID: 32631816 Free PMC article.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828 Free PMC article.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, Spencer-Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. Al-Ali S, et al. Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899841 Free PMC article.
Obtaining Xenopus tropicalis Eggs.
Lane M, Mis EK, Khokha MK. Lane M, et al. Among authors: mis ek. Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106344. doi: 10.1101/pdb.prot106344. Cold Spring Harb Protoc. 2022. PMID: 34031209
Microinjection of Xenopus tropicalis Embryos.
Lane M, Mis EK, Khokha MK. Lane M, et al. Among authors: mis ek. Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot107644. doi: 10.1101/pdb.prot107644. Cold Spring Harb Protoc. 2022. PMID: 34244348
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Landim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Landim-Vieira M, et al. Among authors: mis ek. Front Physiol. 2020 Jan 22;10:1612. doi: 10.3389/fphys.2019.01612. eCollection 2019. Front Physiol. 2020. PMID: 32038292 Free PMC article.
25 results