Highlighted Publications

2023

The dishevelled associated activator of morphogenesis protein 2 (Daam2) regulates neural tube closure.

Nama K, Su B, Marquez J, Khokha MK, Habas R.

Dev Dyn. 2024 Jun 15. doi: 10.1002/dvdy.720. Online ahead of print.

PMID: 38877839

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, Lakhani SA, Donovan FX, Jacobson S, Blackstone C, Guinto CO, Landouré G, Bonifacino JS, Fischbeck KH, Grunseich C.

Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19.

PMID: 38772452

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. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7.

PMID: 37947183

Conserved chromatin and repetitive patterns reveal slow genome evolution in frogs.

Bredeson JV, Mudd AB, Medina-Ruiz S, Mitros T, Smith OK, Miller KE, Lyons JB, Batra SS, Park J, Berkoff KC, Plott C, Grimwood J, Schmutz J, Aguirre-Figueroa G, Khokha MK, Lane M, Philipp I, Laslo M, Hanken J, Kerdivel G, Buisine N, Sachs LM, Buchholz DR, Kwon T, Smith-Parker H, Gridi-Papp M, Ryan MJ, Denton RD, Malone JH, Wallingford JB, Straight AF, Heald R, Hockemeyer D, Harland RM, Rokhsar DS.

Nat Commun. 2024 Jan 17;15(1):579. doi: 10.1038/s41467-023-43012-9.

PMID: 38233380 Free PMC article.

Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.

Abdullah, Hussain S, Ji W, Khan H, Mis EK, Mushtaq R, Chodhary M, Raza MH, Jan A, Ullah I, Khokha MK, Lakhani SA, Ahmad W.

Clin Genet. 2024 Jan;105(1):109-111. doi: 10.1111/cge.14430. Epub 2023 Sep 30.

PMID: 37776184 No abstract available.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.

O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW.

Int J Mol Sci. 2023 Dec 28;25(1):430. doi: 10.3390/ijms25010430.

PMID: 38203602 Free PMC article.

Mitochondrial leak metabolism induces the Spemann-Mangold Organizer via Hif-1α in Xenopus.

MacColl Garfinkel A, Mnatsakanyan N, Patel JH, Wills AE, Shteyman A, Smith PJS, Alavian KN, Jonas EA, Khokha MK.

Dev Cell. 2023 Nov 20;58(22):2597-2613.e4. doi: 10.1016/j.devcel.2023.08.015. Epub 2023 Sep 5.

PMID: 37673063

Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.

Marquez J, Aslam F, Khokha MK.

Genesis. 2023 Sep;61(5):e23520. doi: 10.1002/dvg.23520. Epub 2023 Jun 15.

PMID: 37318954

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.

Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK.

Dev Biol. 2023 Jul;499:75-88. doi: 10.1016/j.ydbio.2023.04.006. Epub 2023 May 10.

PMID: 37172641 Free PMC article.

Author Correction: Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.

Sempou E, Kostiuk V, Zhu J, Cecilia Guerra M, Tyan L, Hwang W, Camacho-Aguilar E, Caplan MJ, Zenisek D, Warmflash A, Owens NDL, Khokha MK.

Nat Commun. 2023 Jun 5;14(1):3264. doi: 10.1038/s41467-023-39025-z.

PMID: 37277326 Free PMC article.No abstract available.

Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2.

Colleluori V, Khokha MK.

Dev Biol. 2023 Mar;495:42-53. doi: 10.1016/j.ydbio.2022.11.010. Epub 2022 Dec 23.

PMID: 36572140 Free PMC article.

2022

Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.

Sempou E, Kostiuk V, Zhu J, Cecilia Guerra M, Tyan L, Hwang W, Camacho-Aguilar E, Caplan MJ, Zenisek D, Warmflash A, Owens NDL, Khokha MK.

Nat Commun. 2022 Nov 5;13(1):6681. doi: 10.1038/s41467-022-34363-w.

PMID: 36335122 Free PMC article.

Kap-β2/Transportin mediates β-catenin nuclear transport in Wnt signaling.

Hwang WY, Kostiuk V, González DP, Lusk CP, Khokha MK.

Elife. 2022 Oct 27;11:e70495. doi: 10.7554/eLife.70495.

PMID: 36300792 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.

Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28.

PMID: 35899841 Free PMC article.

Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.

Deniz E, Mis EK, Lane M, Khokha MK.

Cold Spring Harb Protoc. 2022 Jun 7;2022(5):Pdb.prot105676. doi: 10.1101/pdb.prot105676.

PMID: 34031211

Microinjection of Xenopus tropicalis Embryos.

Lane M, Mis EK, Khokha MK.

Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot107644. doi: 10.1101/pdb.prot107644.

PMID: 34244348

Obtaining Xenopus tropicalis Embryos by Natural Mating.

Lane M, Khokha MK.

Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106609. doi: 10.1101/pdb.prot106609.

PMID: 34031213

Obtaining Xenopus tropicalis Embryos by In Vitro Fertilization.

Lane M, Khokha MK.

Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106351. doi: 10.1101/pdb.prot106351.

PMID: 34031212

Raising and Maintaining Xenopus tropicalis from Tadpole to Adult.

Lane M, Slocum M, Khokha MK.

Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106369. doi: 10.1101/pdb.prot106369.

PMID: 34031210

Obtaining Xenopus tropicalis Eggs.

Lane M, Mis EK, Khokha MK.

Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106344. doi: 10.1101/pdb.prot106344.

PMID: 34031209

2021

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.

Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M.

Nat Med. 2021 Dec;27(12):2165-2175. doi: 10.1038/s41591-021-01572-7. Epub 2021 Dec 9.

PMID: 34887573 Free PMC article.

A convergent molecular network underlying autism and congenital heart disease.

Rosenthal SB, Willsey HR, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T.

Cell Syst. 2021 Nov 17;12(11):1094-1107.e6. doi: 10.1016/j.cels.2021.07.009. Epub 2021 Aug 18.

PMID: 34411509 Free PMC article.

Functional testing for variant prioritization in a family with long QT syndrome.

Najari Beidokhti M, Bertalovitz AC, Ji W, McCormack J, Jeffries L, Sempou E, Khokha MK, McDonald TV, Lakhani SA.

Mol Genet Genomics. 2021 Jul;296(4):823-836. doi: 10.1007/s00438-021-01780-3. Epub 2021 Apr 19.

PMID: 33876311

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. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6.

PMID: 32631816 Free PMC article.

Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells.

Kulkarni S, Marquez J, Date P, Ventrella R, Mitchell BJ, Khokha MK.

Elife. 2021 Jun 29;10:e66076. doi: 10.7554/eLife.66076.

PMID: 34184636 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.

Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13.

PMID: 33438828 Free PMC article.

Xenopus as a platform for discovery of genes relevant to human disease.

Kostiuk V, Khokha MK.

Curr Top Dev Biol. 2021;145:277-312. doi: 10.1016/bs.ctdb.2021.03.005. Epub 2021 Apr 23.

PMID: 34074532 Free PMC article. Review.

Nucleoporin NUP205 plays a critical role in cilia and congenital disease.

Marquez J, Bhattacharya D, Lusk CP, Khokha MK.

Dev Biol. 2021 Jan 1;469:46-53. doi: 10.1016/j.ydbio.2020.10.001. Epub 2020 Oct 13.

PMID: 33065118 Free PMC article.

2020

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F.

Am J Hum Genet. 2020 Dec 3;107(6):1113-1128. doi: 10.1016/j.ajhg.2020.11.008. Epub 2020 Nov 23.

PMID: 33232676 Free PMC article.

Challenges and opportunities at the interface of birth defects, human genetics and developmental biology.

Khokha MK, Liu KJ, Wallingford JB.

Development. 2020 Nov 9;147(21):dev197871. doi: 10.1242/dev.197871.

PMID: 33168578 Free PMC article. Review.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F.

Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4.

PMID: 32891193 Free PMC article.

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Mis EK, Al-Ali S, Ji W, Spencer-Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA.

Am J Med Genet A. 2020 Oct;182(10):2291-2296. doi: 10.1002/ajmg.a.61783. Epub 2020 Aug 19.

PMID: 32812332

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.

Rivas VN, Magdesian KG, Fagan S, Slovis NM, Luethy D, Javsicas LH, Caserto BG, Miller AD, Dahlgren AR, Peterson J, Hales EN, Peng S, Watson KD, Khokha MK, Finno CJ.

PLoS Genet. 2020 Sep 28;16(9):e1009028. doi: 10.1371/journal.pgen.1009028. eCollection 2020 Sep.

PMID: 32986719 Free PMC article.

Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.

Farley-Barnes KI, Deniz E, Overton MM, Khokha MK, Baserga SJ.

PLoS Genet. 2020 Aug 19;16(8):e1008967. doi: 10.1371/journal.pgen.1008967. eCollection 2020 Aug.

PMID: 32813698 Free PMC article.

De novo damaging variants associated with congenital heart diseases contribute to the connectome.

Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR.

Sci Rep. 2020 Apr 27;10(1):7046. doi: 10.1038/s41598-020-63928-2.

PMID: 32341405 Free PMC article.

Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.

Vishnoi N, Dhanasekeran K, Chalfant M, Surovstev I, Khokha MK, Lusk CP.

J Cell Biol. 2020 Mar 2;219(3):e201906031. doi: 10.1083/jcb.201906031.

PMID: 32211895 Free PMC article.

Author Correction: 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. 2020 Feb 12;10(1):2791. doi: 10.1038/s41598-020-59301-y.

PMID: 32047215 Free PMC article.

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. 2020 Feb 3;130(2):813-826. doi: 10.1172/JCI129308.

PMID: 31904590 Free PMC article.

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. 2020 Jan 22;10:1612. doi: 10.3389/fphys.2019.01612. eCollection 2019.

PMID: 32038292 Free PMC article.

2019

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. 2019 Dec 1;456(1):1-7. doi: 10.1016/j.ydbio.2019.07.019. Epub 2019 Aug 6.

PMID: 31398317 Free PMC article.

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. 2019 Sep 20;10:1197. doi: 10.3389/fphys.2019.01197. eCollection 2019.

PMID: 31620018 Free PMC article.

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. 2019 Aug 1;452(1):8-20. doi: 10.1016/j.ydbio.2019.03.015. Epub 2019 Apr 10.

PMID: 30980799

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. 2019 Jul 30;10:953. doi: 10.3389/fphys.2019.00953. eCollection 2019.

PMID: 31417417 Free PMC article. Review.

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK.

BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z.

PMID: 31315584 Free PMC article.

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. 2019 Jul 9;116(28):14049-14054. doi: 10.1073/pnas.1808341116. Epub 2019 Jun 24.

PMID: 31235600 Free PMC article.

Gaussian process post-processing for particle tracking velocimetry.

Tang T, Deniz E, Khokha MK, Tagare HD.

Biomed Opt Express. 2019 Jun 7;10(7):3196-3216. doi: 10.1364/BOE.10.003196. eCollection 2019 Jul 1.

PMID: 31360598 Free PMC article.

Genes and mechanisms of heterotaxy: patients drive the search.

Sempou E, Khokha MK.

Curr Opin Genet Dev. 2019 Jun;56:34-40. doi: 10.1016/j.gde.2019.05.003. Epub 2019 Jun 21.

PMID: 31234044 Review.

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. 2019 Apr 17;9(1):6196. doi: 10.1038/s41598-019-42549-4.

PMID: 30996265 Free PMC article.

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. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15.

PMID: 30323019

Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E.

J Allergy Clin Immunol. 2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20.

PMID: 29935219 Free PMC article. Clinical Trial.

2018

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. 2018 Dec 4;9:1705. doi: 10.3389/fphys.2018.01705. eCollection 2018.

PMID: 30564136 Free PMC article.

WDR5 regulates left-right patterning via chromatin-dependent and -independent functions.

Kulkarni SS, Khokha MK.

Development. 2018 Nov 28;145(23):dev159889. doi: 10.1242/dev.159889.

PMID: 30377171 Free PMC article.

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. 2018 Oct 18;145(20):dev166181. doi: 10.1242/dev.166181.

PMID: 30337486 Free PMC article.

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. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

PMID: 30179222 Free PMC article.

WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation.

Kulkarni SS, Griffin JN, Date PP, Liem KF Jr, Khokha MK.

Dev Cell. 2018 Sep 10;46(5):595-610.e3. doi: 10.1016/j.devcel.2018.08.009.

PMID: 30205038 Free PMC article.

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. 2018 Jul 26;174(3):505-520. doi: 10.1016/j.cell.2018.06.016.

PMID: 30053424 Free PMC article. Review.

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.

Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N.

Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.

PMID: 30087679 Free PMC article.

Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.

Musunuru K, Bernstein D, Cole FS, Khokha MK, Lee FS, Lin S, McDonald TV, Moskowitz IP, Quertermous T, Sankaran VG, Schwartz DA, Silverman EK, Zhou X, Hasan AAK, Luo XJ.

Circ Genom Precis Med. 2018 Apr;11(4):e002178. doi: 10.1161/CIRCGEN.118.002178.

PMID: 29654098 Free PMC article. Review.

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. 2018 Jan 22;44(2):248-260.e4. doi: 10.1016/j.devcel.2017.12.001. Epub 2017 Dec 28.

PMID: 29290587 Free PMC article.

CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis.

Deniz E, Mis EK, Lane M, Khokha MK.

Methods Mol Biol. 2018;1865:163-174. doi: 10.1007/978-1-4939-8784-9_12.

PMID: 30151766

2017

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. 2017 Dec 8;8(1):2024. doi: 10.1038/s41467-017-01836-2.

PMID: 29222508 Free PMC article.

A p190BRhoGAP mutation and prolonged RhoB activation in fatal systemic capillary leak syndrome.

Pierce RW, Merola J, Lavik JP, Kluger MS, Huttner A, Khokha MK, Pober JS.

J Exp Med. 2017 Dec 4;214(12):3497-3505. doi: 10.1084/jem.20162143. Epub 2017 Nov 2.

PMID: 29097442 Free PMC article.

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. 2017 Nov 8;7(1):15115. doi: 10.1038/s41598-017-14670-9.

PMID: 29118359 Free PMC article.

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. 2017 Jun 15;426(2):401-408. doi: 10.1016/j.ydbio.2016.06.016. Epub 2016 Jul 12.

PMID: 27418388 Free PMC article.

An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.

Garfinkel AM, Khokha MK.

Curr Pathobiol Rep. 2017 Jun;5(2):187-196. doi: 10.1007/s40139-017-0142-x. Epub 2017 May 6.

PMID: 29082114 Free PMC article.

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. 2017 Feb 14;7:42506. doi: 10.1038/srep42506.

PMID: 28195132 Free PMC article.

An opportunity to address the genetic causes of birth defects.

Khokha MK, Mitchell LE, Wallingford JB.

Pediatr Res. 2017 Feb;81(2):282-285. doi: 10.1038/pr.2016.229. Epub 2016 Nov 3.

PMID: 27925620 Free PMC article.

White paper on the study of birth defects.

Khokha MK, Mitchell LE, Wallingford JB.

Birth Defects Res. 2017 Jan 30;109(2):180-185. doi: 10.1002/bdra.23590. Epub 2017 Jan 27.

PMID: 28398650

2016

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. 2016 Oct 20;7(11):4674-4684. doi: 10.1364/BOE.7.004674. eCollection 2016 Nov 1.

PMID: 27896006 Free PMC article.

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.

Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN.

BMC Dev Biol. 2016 Oct 26;16(1):38. doi: 10.1186/s12861-016-0138-5.

PMID: 27784267 Free PMC article.

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. 2016 Oct 4;35(19):2087-2103. doi: 10.15252/embj.201694699. Epub 2016 Jul 19.

PMID: 27436874 Free PMC article.

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. 2016 Sep 12;38(5):478-92. doi: 10.1016/j.devcel.2016.08.002. Epub 2016 Sep 1.

PMID: 27593162 Free PMC article.

Erratum: Particle streak velocimetry-optical coherence tomography: a novel method for multidimensional imaging of microscale fluid flows: erratum.

Zhou KC, Huang BK, Gamm UA, Bhandari V, Khokha MK, Choma MA.

Biomed Opt Express. 2016 May 23;7(6):2360-1. doi: 10.1364/BOE.7.002360. eCollection 2016 Jun 1.

PMID: 27375950 Free PMC article.

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. 2016 Mar 30;7(4):1590-603. doi: 10.1364/BOE.7.001590. eCollection 2016 Apr 1.

PMID: 27375926 Free PMC article.

Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.

Duncan AR, Khokha MK.

Semin Cell Dev Biol. 2016 Mar;51:73-9. doi: 10.1016/j.semcdb.2016.02.022. Epub 2016 Feb 22.

PMID: 26910255 Free PMC article. Review.

Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development.

Owens NDL, Blitz IL, Lane MA, Patrushev I, Overton JD, Gilchrist MJ, Cho KWY, Khokha MK.

Cell Rep. 2016 Jan 26;14(3):632-647. doi: 10.1016/j.celrep.2015.12.050. Epub 2016 Jan 7.

PMID: 26774488 Free PMC article.

Nucleoporin gene expression in Xenopus tropicalis embryonic development.

Reza N, Khokha MK, Del Viso F.

Int J Dev Biol. 2016;60(4-6):181-8. doi: 10.1387/ijdb.150317nr.

PMID: 27389988

2015

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. 2015 Dec 15;408(2):196-204. doi: 10.1016/j.ydbio.2015.11.003. Epub 2015 Nov 4.

PMID: 26546975 Free PMC article.

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. 2015 Oct;12(10):982-8. doi: 10.1038/nmeth.3543. Epub 2015 Aug 31.

PMID: 26322839 Free PMC article.

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. 2015 Aug 24;6(9):3515-38. doi: 10.1364/BOE.6.003515. eCollection 2015 Sep 1.

PMID: 26417520 Free PMC article.

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. 2015 Mar 10;11(3):e1005018. doi: 10.1371/journal.pgen.1005018. eCollection 2015 Mar.

PMID: 25756904 Free PMC article.

Quantitative optical coherence tomography imaging of intermediate flow defect phenotypes in ciliary physiology and pathophysiology.

Huang BK, Gamm UA, Jonas S, Khokha MK, Choma MA.

J Biomed Opt. 2015 Mar;20(3):030502. doi: 10.1117/1.JBO.20.3.030502.

PMID: 25751026 Free PMC article.

2014

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP.

Nat Genet. 2014 Oct;46(10):1135-1139. doi: 10.1038/ng.3066. Epub 2014 Sep 14.

PMID: 25217960 Free PMC article.