Emily Kathryn Mis, PhD
Associate Research ScientistCards
About
Research
Publications
2026
Ccdc57 regulates cilia and left-right patterning in Xenopus
Yang B, Mis E, Zhou X, Aslam F, He J, Lu X, Fan H, Guo T, Deniz E, Luo H, Khokha M. Ccdc57 regulates cilia and left-right patterning in Xenopus. Biology Open 2026, 15: bio062495. PMID: 41758249, PMCID: PMC12969765, DOI: 10.1242/bio.062495.Peer-Reviewed Original ResearchReferral route: a determinant of inequity for children with undiagnosed genetic diseases?
Tang Z, Mis E, Lakhani S. Referral route: a determinant of inequity for children with undiagnosed genetic diseases? Frontiers In Genetics 2026, 17: 1692489. PMID: 41660042, PMCID: PMC12875595, DOI: 10.3389/fgene.2026.1692489.Peer-Reviewed Original Research
2025
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali
Bamba S, Jeffries L, Diarra S, Nimaga K, Touré A, Goita M, Diallo S, Ji W, Maiga A, Traoré O, Doumbia M, Koné A, Sanni K, Camara A, Cissé M, Kane R, Nimaga I, Traoré M, Cissé L, Yalcouyé A, Cissé C, Mefoung S, Sangaré M, Kotioumbé M, Touré A, Dembélé M, Mis E, Guinto C, Samassékou O, Traoré M, Khokha M, Landouré G, Lakhani S. Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali. Genetics In Medicine Open 2025, 3: 103449. PMID: 41035529, PMCID: PMC12481924, DOI: 10.1016/j.gimo.2025.103449.Peer-Reviewed Original ResearchTMBIM4 affects left-right patterning via pluripotency exit during gastrulation
Diab N, Kostiuk V, Tyan L, Mis E, Zenisek D, Khokha M. TMBIM4 affects left-right patterning via pluripotency exit during gastrulation. Developmental Biology 2025, 527: 136-146. PMID: 40744297, DOI: 10.1016/j.ydbio.2025.07.018.Peer-Reviewed Original ResearchBiallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss
Landry-Voyer A, Holling T, Mis E, Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani S. Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2426078122. PMID: 40208938, PMCID: PMC12012559, DOI: 10.1073/pnas.2426078122.Peer-Reviewed Original Research
2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali
Bamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. PMID: 39624497, PMCID: PMC11609193, DOI: 10.3389/fgene.2024.1412442.Peer-Reviewed Original ResearchGenetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchExome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, 196: e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchA Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 15: 443-449. PMID: 40657133, PMCID: PMC12246549, DOI: 10.1159/000539279.Peer-Reviewed Original ResearchAP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
Diarra S, Ghosh S, Cissé L, Coulibaly T, Yalcouyé A, Harmison G, Diallo S, Diallo S, Coulibaly O, Schindler A, Cissé C, Maiga A, Bamba S, Samassekou O, Khokha M, Mis E, Lahkani S, Donovan F, Jacobson S, Blackstone C, Guinto C, Landouré G, Bonifacino J, Fischbeck K, Grunseich C. AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia. Neurobiology Of Disease 2024, 198: 106537. PMID: 38772452, PMCID: PMC11209852, DOI: 10.1016/j.nbd.2024.106537.Peer-Reviewed Original Research
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