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 ResearchConceptsEmbryonic epidermisMorpholino oligonucleotidesLeft-right organizerLR patterningSitus inversusHuman laterality disordersLeft-right patterningCongenital heart defectsDirectional fluid flowCCDC57Missense variantsPatient variantsMulticiliated cellsLeft-right (LR) asymmetryMotile ciliaHeart defectsCiliary structureCiliary functionAbnormal ciliaPotential involvementLateral disorderCiliaXenopusCardiac loopingVariantsReferral 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 ResearchRoute of referralDisease programsUndiagnosed genetic diseaseNon-Hispanic whitesDeterminants of disparitiesPercentage of participantsDeterminants of inequalityUndiagnosed Diseases ProgramReferral routesNon-HispanicHospital demographicsHispanic individualsRare disease programsNext-generation sequencing technologiesGenetic diseasesReferralCompletion ratesProgram participantsDiagnostic odysseyEnrollment dataParticipantsEthnic minoritiesMinoritized communitiesRare genetic diseasesEthnic groups
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 ResearchTrio exome sequencingExome sequencingGenetic causeGenetic diagnosisExome sequencing dataCausative genetic variantsDe novo eventsTrio exome analysisGenotype-phenotype correlationSequence dataGenomic researchExome analysisGenetic heterogeneityGenetic variantsGenetic etiologySequencing cohortPublic databasesAutosomal recessive inheritanceTriosRecessive inheritanceSequenceVariantsSub-Saharan AfricaCause of epilepsyFamilyTMBIM4 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 ResearchConceptsCongenital heart diseaseCongenital heart disease patientsCongenital heart disease genesIon channelsPluripotency exitPluripotency marker expressionDeleterious genetic variationLR patterningCell fate determinationApplication of cholinePutative ion channelsCardiac asymmetryCongenital defectsMarker expressionEvolutionary conservationHeart diseaseGenomic studiesProtein 4Xenopus tropicalisGastrulation defectsFate determinationGenetic variationAsymmetry defectsTMBIM4Plasma membraneBiallelic 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 ResearchConceptsRibosomal RNA processingRNA processingNonimmune hydrops fetalisRibosomal biogenesis disordersNext generation sequencingRibosome biogenesisPregnancy lossPatient variantsMolecular chaperonesExome sequencingGeneration sequencingPDCD2Biallelic variantsGenetic variantsHydrops fetalisIndependent familiesIn vivo approachesAffected fetusMolecular causesPrimary fibroblastsDevelopmental defectsMonogenic disordersAssociated with hydrops fetalisUS5Early pregnancy loss
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 ResearchWhole-exome sequencingGenetic basisIdentified rare variantsIn silico prediction analysisCompound heterozygous variantsPutative variantsIn silico toolsACMG criteriaExome sequencingProtein structureNovel variantsEpileptic encephalopathyAssess pathogenicityHeterozygous variantsRare variantsHomozygous variantSub-Saharan AfricaDisease mechanismsAssociated with earlier onsetRefractory to antiepileptic medicationsResistant to treatmentGroup of neurological disordersMalian familyEarly-onset seizuresPotential clinical implicationsGenetic 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 ResearchWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsyExome 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 ResearchExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotypeA 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 ResearchHomozygous missense variantWhole-exome sequencingHereditary limb malformationsSonic hedgehog pathwayAutosomal recessive mannerSequence variantsMissense variantsProtein foldingIsolated postaxial polydactylyExome sequencingSegregation analysisNovel variantsConsanguineous familySanger sequencingSMO genesExtra digitsHomology modelingCellular differentiationHedgehog pathwayRecessive mannerEmbryonic cellsPostaxial polydactylySequencePreaxial polydactylyVariantsAP2A2 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, Lakhani 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 ResearchHereditary spastic paraplegiaPatient-derived neuronsAdaptor proteinEndocytosis of transferrin receptorsSpastic paraplegiaXenopus tropicalis tadpolesNeuronal cellsHomozygous missense variantWhole-exome sequencingMalian familyComplicated hereditary spastic paraplegiaMissense variantsExome sequencingAccessory proteinsGroup of neurogenetic disordersDefective endocytosisWestern blot analysisProgressive lower extremity spasticityGenetic diagnosisGenetic testingBlot analysisAP2A2Neurological evaluationFrog modelEndocytosis
Get In Touch
Locations
LSOG 406
Lab
Laboratory for Surgery, Obsterics & Gynecology
375 Congress Avenue
New Haven, CT 06519