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

ανά Bone, Kathleen, MacPherson, Melissa Jean, Chernos, Judy, Lauzon, Julie
Τόπος έκδοσης Clin Case Rep (2019)

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

ανά Liu, Jing, Bernier, Francois, Lauzon, Julie, Lowry, R. Brian, Chernos, Judy
Έκδοση 2011

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

ανά 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.
Τόπος έκδοσης Prenat Diagn (2009)

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

ανά 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.
Τόπος έκδοσης Neuron (2020)

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

ανά 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
Έκδοση 2014

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

ανά 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.
Τόπος έκδοσης Am J Med Genet A (2007)

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

ανά 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.
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης J Med Genet (2015)

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

ανά 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.
Έκδοση 2012

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

ανά 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.
Τόπος έκδοσης Hum Mutat (2015)

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

ανά 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
Τόπος έκδοσης Am J Med Genet A (2020)