Long-distance communication by specialized cellular projections during pigment pattern development and evolution
Eom, Dae Seok, Bain, Emily J, Patterson, Larissa B, Grout, Megan E, Parichy, David M
Published in eLife (23.12.2015)
Published in eLife (23.12.2015)
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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Published in The Journal of clinical investigation (01.08.2020)
Published in The Journal of clinical investigation (01.08.2020)
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Milev, Miroslav P., Grout, Megan E., Saint-Dic, Djenann, Cheng, Yong-Han Hank, Glass, Ian A., Hale, Christopher J., Hanna, David S., Dorschner, Michael O., Prematilake, Keshika, Shaag, Avraham, Elpeleg, Orly, Sacher, Michael, Doherty, Dan, Edvardson, Simon
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Van De Weghe, Julie C., Rusterholz, Tamara D.S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Dobyns, William B., Alkuraya, Fowzan S., Roepman, Ronald, Bachmann-Gagescu, Ruxandra, Doherty, Dan
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Rhombencephalosynapsis: Fused cerebellum, confused geneticists
Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Phelps, Ian G, Dempsey, Jennifer C, Grout, Megan E, Isabella, Christine R, Tully, Hannah M, Doherty, Dan, Bachmann-Gagescu, Ruxandra
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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Abnormal glycosylation in Joubert syndrome type 10
Kane, Megan S, Davids, Mariska, Bond, Michelle R, Adams, Christopher J, Grout, Megan E, Phelps, Ian G, O'Day, Diana R, Dempsey, Jennifer C, Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A, Doherty, Dan, He, Miao, Malicdan, May Christine V, Gahl, William A, Boerkoel, Cornelius F
Published in Cilia (London) (23.03.2017)
Published in Cilia (London) (23.03.2017)
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, Mancini, Grazia M.S.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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