The interactions of genes, age, and environment in glaucoma pathogenesis
Doucette, Lance P., PhD, Rasnitsyn, Alexandra, BSc, Seifi, Morteza, MSc, Walter, Michael A., PhD
Published in Survey of ophthalmology (01.07.2015)
Published in Survey of ophthalmology (01.07.2015)
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Journal Article
Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma
Hodges, Elizabeth D., Chrystal, Paul W., Footz, Tim, Doucette, Lance P., Noel, Nicole C. L., Li, Zixuan, Walter, Michael A., Allison, W. Ted
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
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
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Journal Article
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation
Doucette, Lance P, Noel, Nicole C L, Zhai, Yi, Xu, Manlong, Caluseriu, Oana, Hoang, Stephanie C, Radziwon, Alina J, MacDonald, Ian M
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Journal Article
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
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
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Journal Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
DOUCETTE, Lance, MERNER, Nancy D, GREEN, Jane S, WILCOX, Edward R, SHOTLAND, Larry, LI, X. C, LEE, Ming, KING, Mary-Claire, YOUNG, Terry-Lynn, COOKE, Sandra, IVES, Elizabeth, GALUTIRA, Dante, WALSH, Vanessa, WALSH, Tom, MACLAREN, Linda, CATER, Tracey, FERNANDEZ, Bridget
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Journal Article
PEX6 Mutations in Peroxisomal Biogenesis Disorders
Benson, Matthew D., Papp, Kimberly M., Casey, Geoffrey A., Radziwon, Alina, St Laurent, Chris D., Doucette, Lance P., MacDonald, Ian M.
Published in Ophthalmology science (Online) (01.06.2021)
Published in Ophthalmology science (Online) (01.06.2021)
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Journal Article
A pathogenic deletion in Forkhead Box L1 gene
Abdelfatah, Nelly, Mostafa, Ahmed A, French, Cu, Doucette, Lance P, Penney, Cindy, Lucas, Matthew B, Griffin, Anne
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Journal Article
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly
DOUCETTE, Lance, GREEN, Jane, FERNANDEZ, Bridget, JOHNSON, Gordon J, PARFREY, Patrick, YOUNG, Terry-Lynn
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
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Journal Article
A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect
Abdelfatah, Nelly, Merner, Nancy, Houston, Jim, Benteau, Tammy, Griffin, Anne, Doucette, Lance, Stockley, Tracy, Lauzon, Julie L., Young, Terry-Lynn
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL
Abdelfatah, Nelly, McComiskey, David A, Doucette, Lance, Griffin, Anne, Moore, Susan J, Negrijn, Carol, Hodgkinson, Kathy A, King, Justin J, Larijani, Mani, Houston, Jim, Stanton, Susan G, Young, Terry-Lynn
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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Journal Article
Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America
Doucette, Lance, Green, Jane, Black, Coleman, Schwartzentruber, Jeremy, Johnson, Gordon J., Galutira, Dante, Young, Terry-Lynn
Published in Ophthalmic genetics (01.09.2013)
Published in Ophthalmic genetics (01.09.2013)
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Journal Article
Erratum: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, MacLaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-Claire, Young, Terry-Lynn
Published in European journal of human genetics : EJHG (24.09.2009)
Published in European journal of human genetics : EJHG (24.09.2009)
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Journal Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, Maclaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-claire, Young, Terry-lynn
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
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Journal Article