Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction
Hynes, Jaclyn, MacMillan, Andrée, Fernandez, Sara, Jacob, Karen, Carter, Shannon, Predham, Sarah, Etchegary, Holly, Dawson, Lesa
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Published in Hereditary cancer in clinical practice (19.02.2020)
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Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer
Kaurah, Pardeep, MacMillan, Andrée, Boyd, Niki, Senz, Janine, De Luca, Alessandro, Chun, Nicki, Suriano, Gianpaolo, Zaor, Sonya, Van Manen, Lori, Gilpin, Cathy, Nikkel, Sarah, Connolly-Wilson, Mary, Weissman, Scott, Rubinstein, Wendy S, Sebold, Courtney, Greenstein, Robert, Stroop, Jennifer, Yim, Dwight, Panzini, Benoit, McKinnon, Wendy, Greenblatt, Marc, Wirtzfeld, Debrah, Fontaine, Daniel, Coit, Daniel, Yoon, Sam, Chung, Daniel, Lauwers, Gregory, Pizzuti, Antonio, Vaccaro, Carlos, Redal, Maria Ana, Oliveira, Carla, Tischkowitz, Marc, Olschwang, Sylviane, Gallinger, Steven, Lynch, Henry, Green, Jane, Ford, James, Pharoah, Paul, Fernandez, Bridget, Huntsman, David
Published in JAMA : the journal of the American Medical Association (06.06.2007)
Published in JAMA : the journal of the American Medical Association (06.06.2007)
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Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators
Dicks, Elizabeth, Pullman, Daryl, Kao, Ken, MacMillan, Andrée, Logan, Gabrielle S., Simmonds, Charlene, Etchegary, Holly
Published in Cancer medicine (Malden, MA) (01.07.2019)
Published in Cancer medicine (Malden, MA) (01.07.2019)
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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
Reilich, Peter, Horvath, Rita, Krause, Sabine, Schramm, Nicolai, Turnbull, Doug M., Trenell, Michael, Hollingsworth, Kieren G., Gorman, Grainne S., Hans, Volkmar H., Reimann, Jens, MacMillan, Andrée, Turner, Lesley, Schollen, Annette, Witte, Gregor, Czermin, Birgit, Holinski-Feder, Elke, Walter, Maggie C., Schoser, Benedikt, Lochmüller, Hanns
Published in Journal of neurology (01.11.2011)
Published in Journal of neurology (01.11.2011)
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A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect
Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond
Hansford, Samantha, Kaurah, Pardeep, Li-Chang, Hector, Woo, Michelle, Senz, Janine, Pinheiro, Hugo, Schrader, Kasmintan A, Schaeffer, David F, Shumansky, Karey, Zogopoulos, George, Santos, Teresa Almeida, Claro, Isabel, Carvalho, Joana, Nielsen, Cydney, Padilla, Sarah, Lum, Amy, Talhouk, Aline, Baker-Lange, Katie, Richardson, Sue, Lewis, Ivy, Lindor, Noralane M, Pennell, Erin, MacMillan, Andree, Fernandez, Bridget, Keller, Gisella, Lynch, Henry, Shah, Sohrab P, Guilford, Parry, Gallinger, Steven, Corso, Giovanni, Roviello, Franco, Caldas, Carlos, Oliveira, Carla, Pharoah, Paul D P, Huntsman, David G
Published in JAMA oncology (01.04.2015)
Published in JAMA oncology (01.04.2015)
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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Fernandez, Bridget A, Green, Jane S, Bursey, Ford, Barrett, Brendan, MacMillan, Andrée, McColl, Sarah, Fernandez, Sara, Rahman, Proton, Mahoney, Krista, Pereira, Sergio L, Scherer, Stephen W, Boycott, Kym M, Woods, Michael O
Published in BMC genetics (21.11.2012)
Published in BMC genetics (21.11.2012)
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Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap
McCuaig, Jeanna M, Stockley, Tracy L, Shaw, Patricia, Fung-Kee-Fung, Michael, Altman, Alon D, Bentley, James, Bernardini, Marcus Q, Cormier, Beatrice, Hirte, Hal, Kieser, Katharina, MacMillan, Andree, Meschino, Wendy S, Panabaker, Karen, Perrier, Renee, Provencher, Diane, Schrader, Kasmintan A, Serfas, Kimberly, Tomiak, Eva, Wong, Nora, Young, Sean S, Gotlieb, Walter Henri, Hoskins, Paul, Kim, Raymond H
Published in Journal of medical genetics (01.09.2018)
Published in Journal of medical genetics (01.09.2018)
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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
Baert, Annelot, Machackova, Eva, Coene, Ilse, Cremin, Carol, Turner, Kristin, Portigal‐Todd, Cheryl, Asrat, Marie Jill, Nuk, Jennifer, Mindlin, Allison, Young, Sean, MacMillan, Andree, Maerken, Tom, Trbusek, Martin, McKinnon, Wendy, Wood, Marie E., Foulkes, William D., Santamariña, Marta, la Hoya, Miguel, Foretova, Lenka, Poppe, Bruce, Vral, Anne, Rosseel, Toon, Leeneer, Kim, Vega, Ana, Claes, Kathleen B. M.
Published in Human mutation (01.04.2018)
Published in Human mutation (01.04.2018)
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XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette J A, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E
Published in BMC medical genetics (25.04.2005)
Published in BMC medical genetics (25.04.2005)
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Founder and Recurrent CDH1 mutations in families with Hereditary diffuse gastric Cancer. Editorial
KAURAH, Pardeep, MACMILLAN, Andrée, NIKKEL, Sarah, CONNOLLY-WILSON, Mary, WEISSMAN, Scott, RUBINSTEIN, Wendy S, SEBOLD, Courtney, GREENSTEIN, Robert, STROOP, Jennifer, YIM, Dwight, PANZINI, Benoit, MEKINNON, Wendy, BOYD, Niki, GREENBLATT, Marc, WIRTZFELD, Debrah, FONTAINE, Daniel, COIT, Daniel, YOON, Sam, CHUNG, Daniel, LAUWERS, Gregory, PIZZUTI, Antonio, VACCARO, Carlos, REDAL, Maria Ana, SENZ, Janine, OLIVEIRA, Carla, TISCHKOWITZ, Marc, OLSCHWANG, Sylviane, GALLINGER, Steven, LYNCH, Henry, GREEN, Jane, FORD, James, PHAROAH, Paul, FERNANDEZ, Bridget, HUNTSMAN, David, DE LUCA, Alessandro, KANGELARIS, Kirsten N, GRUBER, Stephen B, CHUN, Nicki, SURIANO, Gianpaolo, ZAOR, Sonya, VAN MANEN, Lori, GILPIN, Cathy
Published in JAMA : the journal of the American Medical Association (2007)
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Published in JAMA : the journal of the American Medical Association (2007)
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Genetic implications of double primary cancers of the colorectum and endometrium
Pal, T, Flanders, T, Mitchell-Lehman, M, MacMillan, A, Brunet, J S, Narod, S A, Foulkes, W D
Published in Journal of medical genetics (01.12.1998)
Published in Journal of medical genetics (01.12.1998)
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