*Click on citations below to view the full article.


S.N. Bay, A.B. Long, and T Caspary. ­Disruption of the ciliary GTPase Arl13b suppresses Sonic Hedgehog overactivation and inhibits medulloblastoma formation. PNAS 2018 Jan 29. pii:201706977. PMID: 29378965. Supplemental

Gigante ED, Long AB, Ben-Ami J, Caspary T, Hypomorphic Smo mutant with inefficient ciliary enrichment disrupts the highest level of vertebrate Hedgehog response, Developmental Biology, 437(2):152-162. PMID: 29571613.


A.A. Ivanova, T. Caspary, N.T. Seyfried, D.M. Duong, A.B. West, Z. Liu, and R.A. Kahn. (2017) Biochemical characterization of purified mammalian ARL13B indicate that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF) Journal of Biological Chemistry 2017. 292(26):11091-11108 PMID: 28487361.

Guo J, Otis JM, Higginbotham H, Monckton C, Cheng J, Asokan A, Mykytyn K, Caspary T, Stuber GD, Anton ES. Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity. Developmental Cell. 2017 Aug 7;42(3):286-300.e4. PMID:28787594.

R. Rafiullah, A.B. Long, A.A Ivanova, H. Ali, S. Berkel, G. Mustafa, N. Paramasivam, M. Schlesner,S. Wiemann, R.C. Wade, E. Bolthauser, M. Blum, R.A. Kahn, T. Caspary, G.A. Rappold.A novel ARL13B mutation extends the clinical spectrum and highlights the role of GEF activity for ARL3 in patients with Joubert Syndrome. European Journal of Human Genetics. 2017. 25(12):1324-34. PMID: 29255182

Rutkowski TP, Schroeder JP, Gafford GM, Warren ST, Weinshenker D, Caspary T, Mulle JG. Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. Journal of Neuroscience Research 2017. 95(5):1144-1160 PMID: 27859486.


Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Arl13b and the exocyst interact synergistically in ciliogenesis. Molecular Biology of the Cell. 2016 Jan 15;27(2):308-20. PMID: 26582389.

Mariani LE, Bijlsma MF, Ivanova AI, Suciu SK, Kahn RA and T. Caspary. Arl13b regulate Shh signaling from both inside and outside the cilium. Molecular Biology of the Cell. 2016. mbc.E16-03-0189 PMID:27682584


Umberger NL, and Caspary T.  Mol Biol Cell. 2015, Jan 15;26(2):350-8. Ciliary transport regulates PDGF-AA/αα signaling via elevated mammalian target of rapamycin signaling and diminished PP2A activity.

Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. Eur J Hum Genet. 2015, May;23(5):621-7. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.


Piotrowska-Nitsche K1, Caspary T. J Vis Exp. 2013, Apr 30;(74):e4439. Ex vivo live imaging of single cell divisions in mouse neuroepithelium.

Higginbotham H, Guo J, Yokota Y, Umberger NL, Su CY, Li J, Verma N, Hirt J, Ghukasyan V, Caspary T, Anton ES. Nat Neurosci. 2013, Aug;16(8):1000-7. Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation.


Higginbotham H, Eom TY, Mariani LE, Bachleda A, Hirt J, Gukassyan V, Cusack CL, Lai C, Caspary T, Anton ES. Developmental Cell. 2012, Nov 13 23(5):925-38. Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.

Su CY, Bay SN, Mariani LE, Hillman MJ, Caspary T. Development. 2012, Nov 139(21):4062-71. Temporal deletion of Arl13b reveals that a mispatterned neural tube corrects cell fate over time.

Bay SN, Caspary T. Cilia. 2012, 1 Oct,1:19. What are those cilia doing in the neural tube?

Larkins CE, Busey Long A, Caspary T. Dev Biol. 2012 Jul 1;367(1):15-24. Defective Nodal and Cerl2 expression in Arl13b(hnn) mutant node underlies its heterotaxia.

Piotrowska-Nitsche K, Caspary T. Cilia. 2012 May 2,1:6. Live imaging of individual cell divisions in mouse neuroepithelium shows asymmetry in cilium formation and Sonic hedgehog response.

Sun M, Mondal K, Patel V, Horner VL, Long AB, Cutler DJ, Caspary T, Zwick ME. G3 January 2012 2:143-150. Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutation in the Mouse.


Larkins CE, Aviles GDG, East MP, Kahn RA, Caspary T. Mol Biol Cell. 2011 Dec;22(23):4694-703. Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins.

Horner VL, Caspary T. Dev Biol. 2011. Jul 1;355(1):43-54. Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling.

Kaiser WJ, Upton JW, Long AB, Livingston-Rosanoff D, Daley-Bauer LP, Haken R, Caspary T, Mocarski ES. Nature. 2011 Mar 17;471(7338):368-72. RIP3 mediates the embryonic lethality of caspase-8-deficient mice.

Horner VL, Caspary T. Methods Mol Biol. 2011;770:313-36. Creating a hopeful monster: mouse forward genetic screens. 


Moore BA, Gonzalez Aviles GD, Larkins CE, Hillman MJ, Caspary T. Mamm Genome. 2010 Aug;21(7-8):350-60. Mitochondrial retention of Opa1 is required for mouse embryogenesis


Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, Hamilton-Nelson KL, Slifer SH, Martin ER, Bixby JL, Lemmon VP. Neurogenetics. 2012 Feb;11(1):53-71. A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. 


Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. Am J Hum Genet. 2008 Aug;83(2):170-9. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.


Caspary T, Larkins CE, Anderson KV. Dev Cell. 2007 May;12(5):767-78. The graded response to Sonic Hedgehog depends on cilia architecture.

Alisch RS, Jin P, Epstein M, Caspary T, Warren ST. PLoS Genet. 2007 Dec 28;3(12):e227. Argonaute2 is essential for mammalian gastrulation and proper mesoderm formation.


Caspary T, Anderson KV. Dev Dyn. 2006 Sep;235(9):2412-23. Uncovering the uncharacterized and unexpected: unbiased phenotype-driven screens in the mouse. (Review)


García-García MJ, Eggenschwiler JT, Caspary T, Alcorn HL, Wyler MR, Huangfy D, Rakeman AS, Lee JD, Feinberg EH, Timmer JR, Anderson KV. Proc Natl Acad Sci USA. 2005 Apr 26;102(17):5913-9. Anaylsis of mouse embryonic patterning and morphogenesis by forward genetics.


Caspary T, Anderson KV. Nat Rev Neurosci. 2003 Apr;4(4):289-97. Patterning cell types in the dorsal spinal cord: what the mouse mutants say. (Review)


Caspary T, García-García MJ, Eggenschwiler JR, Wyler MR, Huangfu D, Rakeman AS, Lee JD, Alcorn HL, Anderson KV. Curr Biol. 2002 Sep 17;12(18):1628-32. Mouse Dispatched homologue1 is required for long-range, but not juxtacrine, Hh signaling.


Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, and Tilghman SM. Genes Dev. 1999 Dec 1;13(23):3115-24. Oppositely imprinted genes p57Kip2 and Igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.


Tilghman SM, Caspary T, Ingram RI. Nature Genetics. 1998. 18:206-208. Competitive edge at the imprinted Prader-Willi/Angelman region.

Caspary T, Cleary MA, Baker CC, Guan XJ, Tilghman SM. Mol Cell Biol. 1998 Jun;18(6):3466-74. Multiple mechanisms of imprinting on distal mouse chromosome 7.


Guillemot FT, Caspary T, Tilghman SM, Copeland NG, Gilbert DJ, Jenkins NA, Anderson DJ, Joyner AL, Rossant J, Nagy A. Nat Genet. 1995 Mar;9(3):235-42. Genomic imprinting of Mash-2, a mouse gene required for trophoblast development.