FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25

por Rasnitsyn, Alexandra, Doucette, Lance, Seifi, Morteza, Footz, Tim, Raymond, Vincent, Walter, Michael A.
Publicado 2017

PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic

por Benson, Matthew D., Papp, Kimberly M., Casey, Geoffrey A., Radziwon, Alina, St Laurent, Chris D., Doucette, Lance P., MacDonald, Ian M.
Publicado 2021

Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma

por Hodges, Elizabeth D., Chrystal, Paul W., Footz, Tim, Doucette, Lance P., Noel, Nicole C. L., Li, Zixuan, Walter, Michael A., Allison, W. Ted
Publicado 2023

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation

por Doucette, Lance P., Noel, Nicole C. L., Zhai, Yi, Xu, Manlong, Caluseriu, Oana, Hoang, Stephanie C., Radziwon, Alina J., MacDonald, Ian M.
Publicado 2021

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

por Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, French, Curtis R., Singh, Sushma, Werdyani, Salem, Burt, Taylor, Abdelfatah, Nelly, Houston, Jim, Doucette, Lance P., Squires, Jessica, Glaser, Fabian, Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, Woodland, Geoffrey, Benoukraf, Touati, Hawkey-Noble, Alexia, Avraham, Karen B., Stanton, Susan G., Young, Terry-Lynn
Publicado 2022

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

por Abdelfatah, Nelly, Mostafa, Ahmed A., French, Curtis R., Doucette, Lance P., Penney, Cindy, Lucas, Matthew B., Griffin, Anne, Booth, Valerie, Rowley, Christopher, Besaw, Jessica E., Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Hodgkinson, Kathy A., Little, Leichelle A., Agrawal, Sumit, Parnes, Lorne, Batten, Tony, Moore, Susan, Hu, Pingzhao, Pater, Justin A., Houston, Jim, Galutira, Dante, Benteau, Tammy, MacDonald, Courtney, French, Danielle, O’Rielly, Darren D., Stanton, Susan G., Young, Terry-Lynn
Publicado 2021

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

por Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, Leroux, Michel R.
Publicado 2022