Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report

por Bone, Kathleen, MacPherson, Melissa Jean, Chernos, Judy, Lauzon, Julie
Publicado en Clin Case Rep (2019)

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

por Liu, Jing, Bernier, Francois, Lauzon, Julie, Lowry, R. Brian, Chernos, Judy
Publicado 2011

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

por Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Publicado en Prenat Diagn (2009)

A cluster of autism-associated variants on X-linked NLGN4X functionally resemble NLGN4Y

por Nguyen, Thien A., Wu, Kunwei, Pandey, Saurabh, Lehr, Alexander W., Li, Yan, Bemben, Michael A., Badger, John D., Lauzon, Julie L., Wang, Tongguang, Zaghloul, Kareem A., Thurm, Audrey, Jain, Mahim, Lu, Wei, Roche, Katherine W.
Publicado en Neuron (2020)

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

por Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J
Publicado 2014

Neuroimaging Findings in Macrocephaly–Capillary Malformation: A Longitudinal Study of 17 Patients

por Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez-Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, H. Eugene, Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, Graham, John M.
Publicado en Am J Med Genet A (2007)

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

por Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Publicado 2012

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

por Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Publicado en J Med Genet (2015)

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

por Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Publicado 2012

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

por Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.
Publicado en Hum Mutat (2015)

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

por Dyment, David A., O’Donnell-Luria, Anne, Agrawal, Pankaj B., Akdemir, Zeynep Coban, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B.A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini, Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M.E. Suzanne, Lowry, R. Brian, López-Giráldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Minaur, Sixto Garcia, Jukka Moilanen, Nguyen, An, Nowaczyk, Malgorzata J.M., Posey, Jennifer, Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Rodovalho Doriqui, Maria Juliana, Sawyer S, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil
Publicado en Am J Med Genet A (2020)