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Profile Publications(63)
XB-PERS-758

Publications By Mustafa K Khokha

Results 1 - 50 of 63 results

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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.                  


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 6, 2020;


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.                                


Gaussian process post-processing for particle tracking velocimetry., Tang T, Deniz E, Khokha MK, Tagare HD., Biomed Opt Express. July 1, 2019; 10 (7): 3196-3216.


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. January 1, 2019; 56 (2): 113-122.


A chromosome-scale genome assembly and dense genetic map for Xenopus tropicalis., Mitros T, Lyons JB, Session AM, Jenkins J, Shu S, Kwon T, Lane M, Ng C, Grammer TC, Khokha MK, Grimwood J, Schmutz J, Harland RM, Rokhsar DS., Dev Biol. January 1, 2019; 452 (1): 8-20.              


Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus., Date P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E., Sci Rep. January 1, 2019; 9 (1): 6196.                            


Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility., Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M., Proc Natl Acad Sci U S A. January 1, 2019; 116 (28): 14049-14054.                                  


Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR, González DP, Del Viso F, Robson A, Khokha MK, Griffin JN., Dev Biol. January 1, 2019; 456 (1): 1-7.        


Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY, Marquez J, Khokha MK., Front Physiol. January 1, 2019; 10 953.  


Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies., Deniz E, Jonas S, Khokha MK, Choma MA., Front Physiol. January 1, 2019; 10 1197.      


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.              


Genes and mechanisms of heterotaxy: patients drive the search., Sempou E, Khokha MK., Curr Opin Genet Dev. January 1, 2019; 56 34-40.


RAPGEF5 Regulates Nuclear Translocation of β-Catenin., Griffin JN, Del Viso F, Duncan AR, Robson A, Hwang W, Kulkarni S, Liu KJ, Khokha MK., Dev Cell. January 1, 2018; 44 (2): 248-260.e4.                                                


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.


Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F., J Clin Invest. January 1, 2018; 128 (10): 4313-4328.


WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS, Griffin JN, Date PP, Liem KF, Khokha MK., Dev Cell. January 1, 2018; 46 (5): 595-610.e3.                              


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. January 1, 2018; 145 (20):                   


WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS, Khokha MK., Development. January 1, 2018; 145 (23):                 


Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E, Lakhani OA, Amalraj S, Khokha MK., Front Physiol. January 1, 2018; 9 1705.              


The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders., Willsey AJ, Morris MT, Wang S, Willsey HR, Sun N, Teerikorpi N, Baum TB, Cagney G, Bender KJ, Desai TA, Srivastava D, Davis GW, Doudna J, Chang E, Sohal V, Lowenstein DH, Li H, Agard D, Keiser MJ, Shoichet B, von Zastrow M, Mucke L, Finkbeiner S, Gan L, Sestan N, Ward ME, Huttenhain R, Nowakowski TJ, Bellen HJ, Frank LM, Khokha MK, Lifton RP, Kampmann M, Ideker T, State MW, Krogan NJ., Cell. January 1, 2018; 174 (3): 505-520.      


An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM, Khokha MK., Curr Pathobiol Rep. June 1, 2017; 5 (2): 187-196.


Developmentally regulated long non-coding RNAs in Xenopus tropicalis., Forouzmand E, Owens NDL, Blitz IL, Paraiso KD, Khokha MK, Gilchrist MJ, Xie X, Cho KWY., Dev Biol. January 1, 2017; 426 (2): 401-408.                  


Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E, Jonas S, Hooper M, N Griffin J, Choma MA, Khokha MK., Sci Rep. January 1, 2017; 7 42506.          


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. January 1, 2017; 7 (1): 15115.            


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. January 1, 2017; 8 (1): 2024.


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. November 1, 2016; 7 (11): 4674-4684.


Particle streak velocimetry-optical coherence tomography: a novel method for multidimensional imaging of microscale fluid flows., Zhou KC, Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA., Biomed Opt Express. April 1, 2016; 7 (4): 1590-603.


Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR, Khokha MK., Semin Cell Dev Biol. March 1, 2016; 51 73-9.    


Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development., Owens ND, Blitz IL, Lane MA, Patrushev I, Overton JD, Gilchrist MJ, Cho KW, Khokha MK., Cell Rep. January 26, 2016; 14 (3): 632-47.                                                  


Codon identity regulates mRNA stability and translation efficiency during the maternal-to-zygotic transition., Bazzini AA, Del Viso F, Moreno-Mateos MA, Johnstone TG, Vejnar CE, Qin Y, Yao J, Khokha MK, Giraldez AJ., EMBO J. January 1, 2016; 35 (19): 2087-2103.


Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK., Dev Cell. January 1, 2016; 38 (5): 478-92.                        


Nucleoporin gene expression in Xenopus tropicalis embryonic development., Reza N, Khokha MK, Del Viso F., Int J Dev Biol. January 1, 2016; 60 (4-6): 181-8.            


Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis., Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN., BMC Dev Biol. January 1, 2016; 16 (1): 38.                                      


CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D, Marfo CA, Li D, Lane M, Khokha MK., Dev Biol. December 15, 2015; 408 (2): 196-204.            


The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ, Basu B, Khokha M, Brueckner M., Development. December 1, 2015; 142 (23): 4068-79.                                  


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.        


Three-dimensional, three-vector-component velocimetry of cilia-driven fluid flow using correlation-based approaches in optical coherence tomography., Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA., Biomed Opt Express. September 1, 2015; 6 (9): 3515-38.


The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus., Griffin JN, Sondalle SB, Del Viso F, Baserga SJ, Khokha MK., PLoS Genet. March 1, 2015; 11 (3): e1005018.                              


The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK., Nature. December 19, 2013; 504 (7480): 456-9.    


A novel approach to quantifying ciliary physiology: microfluidic mixing driven by a ciliated biological surface., Jonas S, Zhou E, Deniz E, Huang B, Chandrasekera K, Bhattacharya D, Wu Y, Fan R, Deserno TM, Khokha MK, Choma MA., Lab Chip. November 7, 2013; 13 (21): 4160-3.


Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos., van Veenendaal NR, Ulmer B, Boskovski MT, Fang X, Khokha MK, Wendler CC, Blum M, Rivkees SA., FASEB J. February 1, 2013; 27 (2): 684-91.


Breeding based remobilization of Tol2 transposon in Xenopus tropicalis., Lane MA, Kimber M, Khokha MK., PLoS One. January 1, 2013; 8 (10): e76807.    


Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing., del Viso F, Bhattacharya D, Kong Y, Gilchrist MJ, Khokha MK., BMC Genomics. July 16, 2012; 13 649.                  


Endogenous contrast blood flow imaging in embryonic hearts using hemoglobin contrast subtraction angiography., Deniz E, Jonas S, Khokha M, Choma MA., Opt Lett. July 15, 2012; 37 (14): 2979-81.


Xenopus white papers and resources: folding functional genomics and genetics into the frog., Khokha MK., Genesis. March 1, 2012; 50 (3): 133-42.


The hitchhiker''s guide to Xenopus genetics., Abu-Daya A, Khokha MK, Zimmerman LB., Genesis. March 1, 2012; 50 (3): 164-75.


Generating diploid embryos from Xenopus tropicalis., del Viso F, Khokha M., Methods Mol Biol. January 1, 2012; 917 33-41.


Microfluidic characterization of cilia-driven fluid flow using optical coherence tomography-based particle tracking velocimetry., Jonas S, Bhattacharya D, Khokha MK, Choma MA., Biomed Opt Express. July 1, 2011; 2 (7): 2022-34.                  


Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning., Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M., Proc Natl Acad Sci U S A. February 15, 2011; 108 (7): 2915-20.                      

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