Long-distance communication by specialized cellular projections during pigment pattern development and evolution

Yazar: Eom, Dae Seok, Bain, Emily J, Patterson, Larissa B, Grout, Megan E, Parichy, David M
Yayımlandı eLife (2015)

Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicit...

Yazar: Phelps, Ian G., Dempsey, Jennifer C., Grout, Megan E., Isabella, Christine R., Tully, Hannah M., Doherty, Dan, Bachmann-Gagescu, Ruxandra
Yayımlandı Genet Med (2017)

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Yazar: Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan
Yayımlandı Am J Med Genet C Semin Med Genet (2018)

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

Yazar: 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
Yayımlandı Am J Hum Genet (2017)

Abnormal glycosylation in Joubert syndrome type 10

Yazar: 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.
Yayımlandı Cilia (2017)

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Yazar: 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
Yayımlandı Am J Hum Genet (2017)

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Yazar: Latour, Brooke L., Van De Weghe, Julie C., Rusterholz, Tamara D.S., Letteboer, Stef J.F., Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E., van Reeuwijk, Jeroen, van Beersum, Sylvia E.C., Miller, Caitlin V., Dempsey, Jennifer C., Morsy, Heba, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A., Alkuraya, Fowzan S., Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Yayımlandı J Clin Invest (2020)

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Yazar: 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.
Yayımlandı Am J Hum Genet (2018)