Selected publications
(for Full publication list click here)
- Chiaradia, I., Imaz-Rosshandler, I., Nilges, B.S., Boulanger, J., Pellegrini, L., Das, R., Kashikar, N.D., Lancaster, M.A. (2023)
Tissue morphology influences the temporal program of human brain organoid development.
Cell Stem Cell 30(10): 1351-1367.e10 - Kelava, I., Chiaradia, I., Pellegrini, L., Kalinka, A.T., Lancaster, M.A. (2022)
Androgens increase excitatory neurogenic potential in human brain organoids.
Nature 602(7895): 112-116 - Benito-Kwiecinski, S., Giandomenico, S.L., Sutcliffe, M., Riis, E.S., Freire-Pritchett, P., Kelava, I., Wunderlich, S., Martin, U., Wray, G.A., McDole, K., Lancaster, M.A. (2021)
An early cell shape transition drives evolutionary expansion of the human forebrain.
Cell 184(8): 2084-2102.e19 - Giandomenico, S.L., Sutcliffe, M., Lancaster, M.A. (2021)
Generation and long-term culture of advanced cerebral organoids for studying later stages of neural development.
Nat Protoc 16(2): 579-602 - Pellegrini, L., Albecka, A., Mallery, D.L., Kellner, M.J., Paul, D., Carter, A.P., James, L.C., Lancaster, M.A. (2020)
SARS-CoV-2 Infects the Brain Choroid Plexus and Disrupts the Blood-CSF Barrier in Human Brain Organoids.
Cell Stem Cell 27(6): 951-961.e5 - Chiaradia, I., Lancaster, M.A. (2020)
Brain organoids for the study of human neurobiology at the interface of in vitro and in vivo.
Nat Neurosci 23(12): 1496-1508 - Pellegrini, L., Bonfio, C., Chadwick, J., Begum, F., Skehel, M., Lancaster, M.A. (2020)
Human CNS barrier-forming organoids with cerebrospinal fluid production.
Science 369(6500) - Giandomenico, S.L., Mierau, S.B., Gibbons, G.M., Wenger, L.M.D., Masullo, L., Sit, T., Sutcliffe, M., Boulanger, J., Tripodi, M., Derivery, E., Paulsen, O., Lakatos, A., Lancaster, M.A. (2019)
Cerebral organoids at the air-liquid interface generate diverse nerve tracts with functional output.
Nat Neurosci 22(4): 669-679 - Lancaster, M.A., Corsini, N.S., Wolfinger, S., Gustafson, E.H., Phillips, A.W., Burkard, T.R., Otani, T., Livesey, F.J., Knoblich, J.A. (2017)
Guided self-organization and cortical plate formation in human brain organoids.
Nat Biotechnol 35(7): 659-666 - Luo, C., Lancaster, M.A., Castanon, R., Nery, J.R., Knoblich, J.A., Ecker, J.R. (2016)
Cerebral Organoids Recapitulate Epigenomic Signatures of the Human Fetal Brain.
Cell Rep 17(12): 3369-3384 - Kelava, I., Lancaster, M.A. (2016)
Stem Cell Models of Human Brain Development.
Cell Stem Cell 18(6): 736-748 - Lancaster, M.A., Knoblich, J.A. (2014)
Generation of cerebral organoids from human pluripotent stem cells.
Nat Protoc 9(10): 2329-40 - Lancaster, M.A., Knoblich, J.A. (2014)
Organogenesis in a dish: modeling development and disease using organoid technologies.
Science 345(6194): 1247125 - Lancaster, M.A., Renner, M., Martin, C.A., Wenzel, D., Bicknell, L.S., Hurles, M.E., Homfray, T., Penninger, J.M., Jackson, A.P., Knoblich, J.A. (2013)
Cerebral organoids model human brain development and microcephaly.
Nature 501(7467): 373-9
Full publication list
(for selected publications click here)
2024
- Birtele, M., Lancaster, M., Quadrato, G. (2024)
Modelling human brain development and disease with organoids.
Nat Rev Mol Cell Biol [Epub ahead of print] - Pașca, S.P., Arlotta, P., Bateup, H.S., Camp, J.G., Cappello, S., Gage, F.H., Knoblich, J.A., Kriegstein, A.R., Lancaster, M.A., Ming, G.L., Novarino, G., Okano, H., Parmar, M., Park, I.H., Reiner, O., Song, H., Studer, L., Takahashi, J., Temple, S., Testa, G., Treutlein, B., Vaccarino, F.M., Vanderhaeghen, P., Young-Pearse, T. (2024)
A framework for neural organoids, assembloids and transplantation studies.
Nature [Epub ahead of print] - Lancaster, M.A. (2024)
Pluripotent stem cell-derived organoids: A brief history of curiosity-led discoveries.
Bioessays 46(12): e2400105 - Sit, T.P.H., Feord, R.C., Dunn, A.W.E., Chabros, J., Oluigbo, D., Smith, H.H., Burn, L., Chang, E., Boschi, A., Yuan, Y., Gibbons, G.M., Khayat-Khoei, M., De Angelis, F., Hemberg, E., Hemberg, M., Lancaster, M.A., Lakatos, A., Eglen, S.J., Paulsen, O., Mierau, S.B. (2024)
MEA-NAP: A flexible network analysis pipeline for neuronal 2D and 3D organoid multielectrode recordings.
Cell Rep Methods 4(11): 100901 - Lancaster, M.A. (2024)
Unraveling mechanisms of human brain evolution.
Cell 187(21): 5838-5857 - Lindhout, F.W., Krienen, F.M., Pollard, K.S., Lancaster, M.A. (2024)
Author Correction: A molecular and cellular perspective on human brain evolution and tempo.
Nature 634(8034): E9 - Pavlinek, A., Adhya, D., Tsompanidis, A., Warrier, V., , ., Vernon, A.C., Lancaster, M., Mill, J., Srivastava, D.P., Baron-Cohen, S. (2024)
Using Organoids to Model Sex Differences in the Human Brain.
Biol Psychiatry Glob Open Sci 4(5): 100343 - Lindhout, F.W., Krienen, F.M., Pollard, K.S., Lancaster, M.A. (2024)
A molecular and cellular perspective on human brain evolution and tempo.
Nature 630(8017): 596-608 - Schrade, L., Mah, N., Bandrowski, A., Chen, Y., Dewender, J., Diecke, S., Hiepen, C., Lancaster, M.A., Marques-Bonet, T., Martinez, S., Mueller, S.C., Navara, C., Prigione, A., Seltmann, S., Sochacki, J., Sutcliffe, M.A., Zywitza, V., Hildebrandt, T.B., Kurtz, A. (2024)
A Standardized Nomenclature Design for Systematic Referencing and Identification of Animal Cellular Material.
Animals (Basel) 14(11) - Sit, T.P., Feord, R.C., Dunn, A.W., Chabros, J., Oluigbo, D., Smith, H.H., Burn, L., Chang, E., Boschi, A., Yuan, Y., Gibbons, G.M., Khayat-Khoei, M., De Angelis, F., Hemberg, E., Hemberg, M., Lancaster, M.A., Lakatos, A., Eglen, S.J., Paulsen, O., Mierau, S.B. (2024)
MEA-NAP compares microscale functional connectivity, topology, and network dynamics in organoid or monolayer neuronal cultures.
bioRxiv [Epub ahead of print]
2023
- Rivron, N.C., Martinez-Arias, A., Sermon, K., Mummery, C., Schöler, H.R., Wells, J., Nichols, J., Hadjantonakis, A.K., Lancaster, M.A., Moris, N., Fu, J., Sturmey, R.G., Niakan, K., Rossant, J., Kato, K. (2023)
Changing the public perception of human embryology.
Nat Cell Biol 25(12): 1717-1719 - Chiaradia, I., Imaz-Rosshandler, I., Nilges, B.S., Boulanger, J., Pellegrini, L., Das, R., Kashikar, N.D., Lancaster, M.A. (2023)
Tissue morphology influences the temporal program of human brain organoid development.
Cell Stem Cell 30(10): 1351-1367.e10 - Warrier, V., Stauffer, E.M., Huang, Q.Q., Wigdor, E.M., Slob, E.A.W., Seidlitz, J., Ronan, L., Valk, S.L., Mallard, T.T., Grotzinger, A.D., Romero-Garcia, R., Baron-Cohen, S., Geschwind, D.H., Lancaster, M.A., Murray, G.K., Gandal, M.J., Alexander-Bloch, A., Won, H., Martin, H.C., Bullmore, E.T., Bethlehem, R.A.I. (2023)
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.
Nat Genet 55(9): 1483-1493 - Ludwig, T.E., Andrews, P.W., Barbaric, I., Benvenisty, N., Bhattacharyya, A., Crook, J.M., Daheron, L.M., Draper, J.S., Healy, L.E., Huch, M., Inamdar, M.S., Jensen, K.B., Kurtz, A., Lancaster, M.A., Liberali, P., Lutolf, M.P., Mummery, C.L., Pera, M.F., Sato, Y., Shimasaki, N., Smith, A.G., Song, J., Spits, C., Stacey, G., Wells, C.A., Zhao, T., Mosher, J.T. (2023)
ISSCR standards for the use of human stem cells in basic research.
Stem Cell Reports 18(9): 1744-1752 - Apostolou, E., Blau, H., Chien, K., Lancaster, M.A., Tata, P.R., Trompouki, E., Watt, F.M., Zeng, Y.A., Zernicka-Goetz, M. (2023)
Progress and challenges in stem cell biology.
Nat Cell Biol 25(2): 203-206
2022
- Cable, J., Lutolf, M.P., Fu, J., Park, S.E., Apostolou, A., Chen, S., Song, C.J., Spence, J.R., Liberali, P., Lancaster, M., Meier, A.B., Pek, N.M.Q., Wells, J.M., Capeling, M.M., Uzquiano, A., Musah, S., Huch, M., Gouti, M., Hombrink, P., Quadrato, G., Urenda, J.P. (2022)
Organoids as tools for fundamental discovery and translation-a Keystone Symposia report.
Ann N Y Acad Sci 1518(1): 196-208 - de Thonel, A., Ahlskog, J.K., Daupin, K., Dubreuil, V., Berthelet, J., Chaput, C., Pires, G., Leonetti, C., Abane, R., Barris, L.C., Leray, I., Aalto, A.L., Naceri, S., Cordonnier, M., Benasolo, C., Sanial, M., Duchateau, A., Vihervaara, A., Puustinen, M.C., Miozzo, F., Fergelot, P., Lebigot, É., Verloes, A., Gressens, P., Lacombe, D., Gobbo, J., Garrido, C., Westerheide, S.D., David, L., Petitjean, M., Taboureau, O., Rodrigues-Lima, F., Passemard, S., Sabéran-Djoneidi, D., Nguyen, L., Lancaster, M., Sistonen, L., Mezger, V. (2022)
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nat Commun 13(1): 7002 - Pașca, S.P., Arlotta, P., Bateup, H.S., Camp, J.G., Cappello, S., Gage, F.H., Knoblich, J.A., Kriegstein, A.R., Lancaster, M.A., Ming, G.L., Muotri, A.R., Park, I.H., Reiner, O., Song, H., Studer, L., Temple, S., Testa, G., Treutlein, B., Vaccarino, F.M. (2022)
A nomenclature consensus for nervous system organoids and assembloids.
Nature 609(7929): 907-910 - Lancaster, M., Morris, S.A., Takebe, T., Qian, L., Gao, S., Huch, M. (2022)
Anniversary reflections: Inspiring discoveries and the future of the field.
Cell Stem Cell 29(6): 879-881 - Kelava, I., Chiaradia, I., Pellegrini, L., Kalinka, A.T., Lancaster, M.A. (2022)
Androgens increase excitatory neurogenic potential in human brain organoids.
Nature 602(7895): 112-116
2021
- Chandrasekaran, A., Jensen, P., Mohamed, F.A., Lancaster, M., Benros, M.E., Larsen, M.R., Freude, K.K. (2021)
A protein-centric view of in vitro biological model systems for schizophrenia.
Stem Cells 39(12): 1569-1578 - Pellegrini, L., Lancaster, M.A. (2021)
Breaking the barrier: In vitro models to study choroid plexus development.
Curr Opin Cell Biol 73: 41-49 - Hiiragi, T., Gladfelter, A.S., Miguel-Aliaga, I., Coller, H.A., Lau, O.S., McBride, H.M., Aoki, K., Linkermann, A., Santaguida, S., Wasteneys, G., Rivron, N.C., Shahbazi, M.N., Ebisuya, M., Lancaster, M.A. (2021)
20 years of Developmental Cell: Looking forward.
Dev Cell 56(23): 3185-3191 - Hoffmann, P.C., Giandomenico, S.L., Ganeva, I., Wozny, M.R., Sutcliffe, M., Lancaster, M.A., Kukulski, W. (2021)
Electron cryo-tomography reveals the subcellular architecture of growing axons in human brain organoids.
Elife 10 - Pellegrini, L., Lancaster, M.A. (2021)
Modeling neurodegeneration with mutant-tau organoids.
Cell 184(17): 4377-4379 - Benito-Kwiecinski, S., Giandomenico, S.L., Sutcliffe, M., Riis, E.S., Freire-Pritchett, P., Kelava, I., Wunderlich, S., Martin, U., Wray, G.A., McDole, K., Lancaster, M.A. (2021)
An early cell shape transition drives evolutionary expansion of the human forebrain.
Cell 184(8): 2084-2102.e19 - Jerber, J., Seaton, D.D., Cuomo, A.S.E., Kumasaka, N., Haldane, J., Steer, J., Patel, M., Pearce, D., Andersson, M., Bonder, M.J., Mountjoy, E., Ghoussaini, M., Lancaster, M.A., , ., Marioni, J.C., Merkle, F.T., Gaffney, D.J., Stegle, O. (2021)
Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation.
Nat Genet 53(3): 304-312 - Lancaster, M.A. (2021)
Brain organoids: A new frontier of human neuroscience research.
Semin Cell Dev Biol 111: 1-3 - Annabi, N., Baker, M., Boettiger, A., Chakraborty, D., Chen, Y., Corbett, K.S., Correia, B., Dahlman, J., de Oliveira, T., Ertuerk, A., Yanik, M.F., Henaff, E., Huch, M., Iliev, I.D., Jacobs, T., Junca, H., Keung, A., Kolodkin-Gal, I., Krishnaswamy, S., Lancaster, M., Macosko, E., Martínez-Núñez, M.A., Miura, K., Molloy, J., Cruz, A.O., Platt, R.J., Posey, A.D., Shao, H., Simunovic, M., Slavov, N., Takebe, T., Vandenberghe, L.H., Varshney, R.K., Wang, J. (2021)
Voices of biotech research.
Nat Biotechnol 39(3): 281-286 - Garreta, E., Kamm, R.D., Chuva de Sousa Lopes, S.M., Lancaster, M.A., Weiss, R., Trepat, X., Hyun, I., Montserrat, N. (2021)
Rethinking organoid technology through bioengineering.
Nat Mater 20(2): 145-155 - Giandomenico, S.L., Sutcliffe, M., Lancaster, M.A. (2021)
Generation and long-term culture of advanced cerebral organoids for studying later stages of neural development.
Nat Protoc 16(2): 579-602
2020
- Pellegrini, L., Albecka, A., Mallery, D.L., Kellner, M.J., Paul, D., Carter, A.P., James, L.C., Lancaster, M.A. (2020)
SARS-CoV-2 Infects the Brain Choroid Plexus and Disrupts the Blood-CSF Barrier in Human Brain Organoids.
Cell Stem Cell 27(6): 951-961.e5 - Chiaradia, I., Lancaster, M.A. (2020)
Brain organoids for the study of human neurobiology at the interface of in vitro and in vivo.
Nat Neurosci 23(12): 1496-1508 - Benito-Kwiecinski, S., Lancaster, M.A. (2020)
Brain Organoids: Human Neurodevelopment in a Dish.
Cold Spring Harb Perspect Biol 12(8) - Pellegrini, L., Bonfio, C., Chadwick, J., Begum, F., Skehel, M., Lancaster, M.A. (2020)
Human CNS barrier-forming organoids with cerebrospinal fluid production.
Science 369(6500)
2019
- Anikeeva, P., Boyden, E., Brangwynne, C., Cissé, I.I., Fiehn, O., Fromme, P., Gingras, A.C., Greene, C.S., Heard, E., Hell, S.W., Hillman, E., Jensen, G.J., Karchin, R., Kiessling, L.L., Kleinstiver, B.P., Knight, R., Kukura, P., Lancaster, M.A., Loman, N., Looger, L., Lundberg, E., Luo, Q., Miyawaki, A., Myers, E.W., Nolan, G.P., Picotti, P., Reik, W., Sauer, M., Shalek, A.K., Shendure, J., Slavov, N., Tanay, A., Troyanskaya, O., van Valen, D., Wang, H.W., Yi, C., Yin, P., Zernicka-Goetz, M., Zhuang, X. (2019)
Voices in methods development.
Nat Methods 16(10): 945-951 - Lancaster, M.A., Huch, M. (2019)
Disease modelling in human organoids.
Dis Model Mech 12(7) - Giandomenico, S.L., Mierau, S.B., Gibbons, G.M., Wenger, L.M.D., Masullo, L., Sit, T., Sutcliffe, M., Boulanger, J., Tripodi, M., Derivery, E., Paulsen, O., Lakatos, A., Lancaster, M.A. (2019)
Cerebral organoids at the air-liquid interface generate diverse nerve tracts with functional output.
Nat Neurosci 22(4): 669-679 - Lancaster, M.A. (2019)
An Electric Take on Neural Fate and Cortical Development.
Dev Cell 48(1): 1-2 - Sutcliffe, M., Lancaster, M.A. (2019)
A Simple Method of Generating 3D Brain Organoids Using Standard Laboratory Equipment.
Methods Mol Biol 1576: 1-12
2018
- Jabaudon, D., Lancaster, M. (2018)
Exploring landscapes of brain morphogenesis with organoids.
Development 145(22) - Adiconis, X., Haber, A.L., Simmons, S.K., Levy Moonshine, A., Ji, Z., Busby, M.A., Shi, X., Jacques, J., Lancaster, M.A., Pan, J.Q., Regev, A., Levin, J.Z. (2018)
Comprehensive comparative analysis of 5'-end RNA-sequencing methods.
Nat Methods 15(7): 505-511 - Lancaster, M.A. (2018)
Brain organoids get vascularized.
Nat Biotechnol 36(5): 407-408 - Lancaster, M.A. (2018)
Crinkle-Cut Brain Organoids.
Cell Stem Cell 22(5): 616-618
2017
- Lancaster, M.A., Corsini, N.S., Wolfinger, S., Gustafson, E.H., Phillips, A.W., Burkard, T.R., Otani, T., Livesey, F.J., Knoblich, J.A. (2017)
Guided self-organization and cortical plate formation in human brain organoids.
Nat Biotechnol 35(7): 659-666 - Russell, J.J., Theriot, J.A., Sood, P., Marshall, W.F., Landweber, L.F., Fritz-Laylin, L., Polka, J.K., Oliferenko, S., Gerbich, T., Gladfelter, A., Umen, J., Bezanilla, M., Lancaster, M.A., He, S., Gibson, M.C., Goldstein, B., Tanaka, E.M., Hu, C.K., Brunet, A. (2017)
Non-model model organisms.
BMC Biol 15(1): 55 - Renner, M., Lancaster, M.A., Bian, S., Choi, H., Ku, T., Peer, A., Chung, K., Knoblich, J.A. (2017)
Self-organized developmental patterning and differentiation in cerebral organoids.
EMBO J 36(10): 1316-1329 - Giandomenico, S.L., Lancaster, M.A. (2017)
Probing human brain evolution and development in organoids.
Curr Opin Cell Biol 44: 36-43 - Li, Y., Muffat, J., Omer, A., Bosch, I., Lancaster, M.A., Sur, M., Gehrke, L., Knoblich, J.A., Jaenisch, R. (2017)
Induction of Expansion and Folding in Human Cerebral Organoids.
Cell Stem Cell 20(3): 385-396.e3
2016
- Luo, C., Lancaster, M.A., Castanon, R., Nery, J.R., Knoblich, J.A., Ecker, J.R. (2016)
Cerebral Organoids Recapitulate Epigenomic Signatures of the Human Fetal Brain.
Cell Rep 17(12): 3369-3384 - Kelava, I., Lancaster, M.A. (2016)
Dishing out mini-brains: Current progress and future prospects in brain organoid research.
Dev Biol 420(2): 199-209 - Kelava, I., Lancaster, M.A. (2016)
Stem Cell Models of Human Brain Development.
Cell Stem Cell 18(6): 736-748
2015
- Camp, J.G., Badsha, F., Florio, M., Kanton, S., Gerber, T., Wilsch-Bräuninger, M., Lewitus, E., Sykes, A., Hevers, W., Lancaster, M., Knoblich, J.A., Lachmann, R., Pääbo, S., Huttner, W.B., Treutlein, B. (2015)
Human cerebral organoids recapitulate gene expression programs of fetal neocortex development.
Proc Natl Acad Sci U S A 112(51): 15672-7 - Brennand, K.J., Marchetto, M.C., Benvenisty, N., Brüstle, O., Ebert, A., Izpisua Belmonte, J.C., Kaykas, A., Lancaster, M.A., Livesey, F.J., McConnell, M.J., McKay, R.D., Morrow, E.M., Muotri, A.R., Panchision, D.M., Rubin, L.L., Sawa, A., Soldner, F., Song, H., Studer, L., Temple, S., Vaccarino, F.M., Wu, J., Vanderhaeghen, P., Gage, F.H., Jaenisch, R. (2015)
Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders.
Stem Cell Reports 5(6): 933-945
2014
- Lancaster, M.A., Knoblich, J.A. (2014)
Generation of cerebral organoids from human pluripotent stem cells.
Nat Protoc 9(10): 2329-40 - Lancaster, M.A., Knoblich, J.A. (2014)
Organogenesis in a dish: modeling development and disease using organoid technologies.
Science 345(6194): 1247125
2013
- Lancaster, M.A., Renner, M., Martin, C.A., Wenzel, D., Bicknell, L.S., Hurles, M.E., Homfray, T., Penninger, J.M., Jackson, A.P., Knoblich, J.A. (2013)
Cerebral organoids model human brain development and microcephaly.
Nature 501(7467): 373-9
2012
- Lancaster, M.A., Knoblich, J.A. (2012)
Spindle orientation in mammalian cerebral cortical development.
Curr Opin Neurobiol 22(5): 737-46
2011
- Lancaster, M.A., Gopal, D.J., Kim, J., Saleem, S.N., Silhavy, J.L., Louie, C.M., Thacker, B.E., Williams, Y., Zaki, M.S., Gleeson, J.G. (2011)
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Nat Med 17(6): 726-31 - Lancaster, M.A., Schroth, J., Gleeson, J.G. (2011)
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.
Nat Cell Biol 13(6): 700-7
2010
- Lancaster, M.A., Gleeson, J.G. (2010)
Cystic kidney disease: the role of Wnt signaling.
Trends Mol Med 16(8): 349-60 - Louie, C.M., Caridi, G., Lopes, V.S., Brancati, F., Kispert, A., Lancaster, M.A., Schlossman, A.M., Otto, E.A., Leitges, M., Gröne, H.J., Lopez, I., Gudiseva, H.V., O'Toole, J.F., Vallespin, E., Ayyagari, R., Ayuso, C., Cremers, F.P., den Hollander, A.I., Koenekoop, R.K., Dallapiccola, B., Ghiggeri, G.M., Hildebrandt, F., Valente, E.M., Williams, D.S., Gleeson, J.G. (2010)
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Nat Genet 42(2): 175-80
2009
- Lancaster, M.A., Louie, C.M., Silhavy, J.L., Sintasath, L., Decambre, M., Nigam, S.K., Willert, K., Gleeson, J.G. (2009)
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.
Nat Med 15(9): 1046-54 - Lancaster, M.A., Gleeson, J.G. (2009)
The primary cilium as a cellular signaling center: lessons from disease.
Curr Opin Genet Dev 19(3): 220-9
2006
- Valente, E.M., Silhavy, J.L., Brancati, F., Barrano, G., Krishnaswami, S.R., Castori, M., Lancaster, M.A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C.M., Bellacchio, E., , ., Bertini, E., Dallapiccola, B., Gleeson, J.G. (2006)
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nat Genet 38(6): 623-5