Emily K Mis - Publications

Publications (19)

XB-PERS-4992

Publications By Emily K Mis

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TMBIM4 affects left-right patterning via pluripotency exit during gastrulation., Diab NS, Kostiuk V, Tyan L, Mis E, Zenisek D, Khokha MK., Dev Biol. July 29, 2025; 527 136-146.
Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss., Landry-Voyer AM, Holling T, Mis EK, Mir Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani SA., Proc Natl Acad Sci U S A. April 15, 2025; 122 (15): e2426078122.
AP2A2 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 SH, Coulibaly O, Schindler A, Cissé CAK, Maiga AB, Bamba S, Samassekou O, Khokha MK, Mis EK, Lahkani SA, Donovan FX, Jacobson S, Blackstone C, Guinto CO, Landouré G, Bonifacino JS, Fischbeck KH, Grunseich C., Neurobiol Dis. May 19, 2024; 106537.
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., Genet Med. February 7, 2023; 26 (2): 101023.
Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography., Deniz E, Mis EK, Lane M, Khokha MK., Cold Spring Harb Protoc. June 7, 2022; 2022 (5): Pdb.prot105676.
Obtaining Xenopus tropicalis Eggs., Lane M, Mis EK, Khokha MK., Cold Spring Harb Protoc. April 1, 2022; 2022 (4): Pdb.prot106344.
Microinjection of Xenopus tropicalis Embryos., Lane M, Mis EK, Khokha MK., Cold Spring Harb Protoc. April 1, 2022; 2022 (4): Pdb.prot107644.
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., J Med Genet. July 1, 2021; 58 (7): 453-464.
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., Am J Med Genet A. April 1, 2021; 185 (4): 1076-1080.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK., J Clin Invest. February 3, 2020; 130 (2): 813-826.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA., J Med Genet. February 1, 2019; 56 (2): 113-122.
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., Front Physiol. January 1, 2019; 10 1612.
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus., Griffin JN, Sondalle SB, Robson A, Mis EK, Griffin G, Kulkarni SS, Deniz E, Baserga SJ, Khokha MK., Development. October 18, 2018; 145 (20):
CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis., Deniz E, Mis EK, Lane M, Khokha MK., Methods Mol Biol. January 1, 2018; 1865 163-174.
CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing., Moreno-Mateos MA, Fernandez JP, Rouet R, Vejnar CE, Lane MA, Mis E, Khokha MK, Doudna JA, Giraldez AJ., Nat Commun. December 8, 2017; 8 (1): 2024.
Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography., Gamm UA, Huang BK, Mis EK, Khokha MK, Choma MA., Sci Rep. November 8, 2017; 7 (1): 15115.
Ultrahigh-speed, phase-sensitive full-field interferometric confocal microscopy for quantitative microscale physiology., Sencan I, Huang BK, Bian Y, Mis E, Khokha MK, Cao H, Choma M., Biomed Opt Express. October 20, 2016; 7 (11): 4674-4684.
CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo., Moreno-Mateos MA, Vejnar CE, Beaudoin JD, Fernandez JP, Mis EK, Khokha MK, Giraldez AJ., Nat Methods. October 1, 2015; 12 (10): 982-8.

TMBIM4 affects left-right patterning via pluripotency exit during gastrulation., Diab NS, Kostiuk V, Tyan L, Mis E, Zenisek D, Khokha MK., Dev Biol. July 29, 2025; 527 136-146.

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss., Landry-Voyer AM, Holling T, Mis EK, Mir Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani SA., Proc Natl Acad Sci U S A. April 15, 2025; 122 (15): e2426078122.

AP2A2 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 SH, Coulibaly O, Schindler A, Cissé CAK, Maiga AB, Bamba S, Samassekou O, Khokha MK, Mis EK, Lahkani SA, Donovan FX, Jacobson S, Blackstone C, Guinto CO, Landouré G, Bonifacino JS, Fischbeck KH, Grunseich C., Neurobiol Dis. May 19, 2024; 106537.

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., Genet Med. February 7, 2023; 26 (2): 101023.

Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography., Deniz E, Mis EK, Lane M, Khokha MK., Cold Spring Harb Protoc. June 7, 2022; 2022 (5): Pdb.prot105676.

Obtaining Xenopus tropicalis Eggs., Lane M, Mis EK, Khokha MK., Cold Spring Harb Protoc. April 1, 2022; 2022 (4): Pdb.prot106344.

Microinjection of Xenopus tropicalis Embryos., Lane M, Mis EK, Khokha MK., Cold Spring Harb Protoc. April 1, 2022; 2022 (4): Pdb.prot107644.

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., J Med Genet. July 1, 2021; 58 (7): 453-464.

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., Am J Med Genet A. April 1, 2021; 185 (4): 1076-1080.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK., J Clin Invest. February 3, 2020; 130 (2): 813-826.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA., J Med Genet. February 1, 2019; 56 (2): 113-122.

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., Front Physiol. January 1, 2019; 10 1612.

RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus., Griffin JN, Sondalle SB, Robson A, Mis EK, Griffin G, Kulkarni SS, Deniz E, Baserga SJ, Khokha MK., Development. October 18, 2018; 145 (20):

CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis., Deniz E, Mis EK, Lane M, Khokha MK., Methods Mol Biol. January 1, 2018; 1865 163-174.

CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing., Moreno-Mateos MA, Fernandez JP, Rouet R, Vejnar CE, Lane MA, Mis E, Khokha MK, Doudna JA, Giraldez AJ., Nat Commun. December 8, 2017; 8 (1): 2024.

Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography., Gamm UA, Huang BK, Mis EK, Khokha MK, Choma MA., Sci Rep. November 8, 2017; 7 (1): 15115.

Ultrahigh-speed, phase-sensitive full-field interferometric confocal microscopy for quantitative microscale physiology., Sencan I, Huang BK, Bian Y, Mis E, Khokha MK, Cao H, Choma M., Biomed Opt Express. October 20, 2016; 7 (11): 4674-4684.

CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo., Moreno-Mateos MA, Vejnar CE, Beaudoin JD, Fernandez JP, Mis EK, Khokha MK, Giraldez AJ., Nat Methods. October 1, 2015; 12 (10): 982-8.

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