A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Yasin, Heba, Gibson, William T, Langlois, Sylvie, Stowe, Robert M, Tsang, Erica S, Lee, Leora, Poon, Jenny, Tran, Grant, Tyson, Christine, Wong, Chi Kin, Marra, Marco A, Friedman, Jan M, Zahir, Farah R
Published in Journal of human genetics (01.04.2019)
Published in Journal of human genetics (01.04.2019)
Get full text
Journal Article
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys
Digby, Elizabeth L., Liauw, Jessica, Dionne, Janis, Langlois, Sylvie, Nikkel, Sarah M.
Published in Prenatal diagnosis (01.03.2021)
Published in Prenatal diagnosis (01.03.2021)
Get full text
Journal Article
Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia
Hubert, Gervaise, Bittencourt, Henrique, Laverdière, Caroline, Teira, Pierre, Cellot, Sonia, Langlois, Sylvie, Rouette, Alexandre, Sontag, Thomas, Sinnett, Daniel, Dal-Soglio, Dorothée, Turpin, Sophie, Tran, Thai Hoa
Published in Haematologica (Roma) (01.06.2023)
Published in Haematologica (Roma) (01.06.2023)
Get full text
Journal Article
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin Jd, Wasserman, Wyeth W, van Karnebeek, Clara Dm
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
Get full text
Journal Article
Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis
Soukkhaphone, Bounhome, Baradaran, Mohammad, Nguyen, Ba Diep, Nshimyumukiza, Leon, Little, Julian, Rousseau, Francois, Audibert, Francois, Langlois, Sylvie, Reinharz, Daniel
Published in BMJ open (30.08.2023)
Published in BMJ open (30.08.2023)
Get full text
Journal Article
Implementation of the BC Congenital Anomalies Surveillance System (BCCASS)
Nava de Escalante, Yonabeth, Abayomi, Aanu, Erickson, Anders, Ye, Xibiao, Armour, Rosemary, Arbour, Laura, Langlois, Sylvie, Henry, Bonnie
Published in Canadian journal of public health (01.06.2022)
Published in Canadian journal of public health (01.06.2022)
Get full text
Journal Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
Get full text
Journal Article
P537: Evaluating parental empowerment and satisfaction in neonatal intensive care units for families experiencing genetic testing: A mixed-methods study
Kim, Sunu, Langlois, Sylvie, Osiovich, Horacio, Virani, Alice, Study, GenCOUNSEL, Elliott, Alison
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies
Soukkhaphone, Bounhome, Lindsay, Carmen, Langlois, Sylvie, Little, Julian, Rousseau, Francois, Reinharz, Daniel
Published in Molecular genetics & genomic medicine (01.05.2021)
Published in Molecular genetics & genomic medicine (01.05.2021)
Get full text
Journal Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Zahir, Farah R, Mwenifumbo, Jill C, Chun, Hye-Jung E, Lim, Emilia L, Van Karnebeek, Clara D M, Couse, Madeline, Mungall, Karen L, Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F, Langlois, Sylvie L, McGillivray, Barbara M, Jones, Steven J M, Friedman, Jan M, Marra, Marco A
Published in BMC genomics (24.05.2017)
Published in BMC genomics (24.05.2017)
Get full text
Journal Article
Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes
Gagnon, Alain, MD, Wilson, R. Douglas, MD, Audibert, François, MD, Allen, Victoria M., MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Désilets, Valerie A., MD, Johnson, Jo-Ann, MD, Langlois, Sylvie, MD, Summers, Anne, MD, Douglas Wilson, R., MD, Wyatt, Philip, MD
Published in Journal of obstetrics and gynaecology Canada (01.10.2008)
Published in Journal of obstetrics and gynaecology Canada (01.10.2008)
Get full text
Journal Article
Prediction of obstetrical risk using maternal serum markers and clinical risk factors
Metcalfe, Amy, Langlois, Sylvie, MacFarlane, Julie, Vallance, Hilary, Joseph, K. S.
Published in Prenatal diagnosis (01.02.2014)
Published in Prenatal diagnosis (01.02.2014)
Get full text
Journal Article
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
Get full text
Journal Article
Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies
Chitayat, David, MD, Langlois, Sylvie, MD, Douglas Wilson, R., MD, Audibert, François, MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Cartier, Lola, MSc, CCGC, Carroll, June, MD, Désilets, Valerie A., MD, Gagnon, Alain, MD, Johnson, Jo-Ann, MD, Murphy-Kaulbeck, Lynn, MD, Okun, Nanette, MD, Pastuck, Melanie, RN, Senikas, Vyta, MD, DeBie, Isabelle, MD, Demczuk, Suzanne, PhD, Desilets, Valerie A., MD, Geraghty, Michael T, MD, Marcadier, Janet, MSc, Nelson, Tanya N., PhD, Skidmore, David, MD, Siu, Vicky, MD
Published in Journal of obstetrics and gynaecology Canada (01.07.2011)
Published in Journal of obstetrics and gynaecology Canada (01.07.2011)
Get full text
Journal Article
The practice of genomic medicine: A delineation of the process and its governing principles
Handra, Julia, Elbert, Adrienne, Gazzaz, Nour, Moller-Hansen, Ashley, Hyunh, Stephanie, Lee, Hyun Kyung, Boerkoel, Pierre, Alderman, Emily, Anderson, Erin, Clarke, Lorne, Hamilton, Sara, Hamman, Ronnalea, Hughes, Shevaun, Ip, Simon, Langlois, Sylvie, Lee, Mary, Li, Laura, Mackenzie, Frannie, Patel, Millan S, Prentice, Leah M, Sangha, Karan, Sato, Laura, Seath, Kimberly, Seppelt, Margaret, Swenerton, Anne, Warnock, Lynn, Zambonin, Jessica L, Boerkoel, Cornelius F, Chin, Hui-Lin, Armstrong, Linlea
Published in Frontiers in medicine (12.01.2023)
Published in Frontiers in medicine (12.01.2023)
Get full text
Journal Article
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
Robinson, Wendy P., Peñaherrera, Maria S., Jiang, Ruby, Avila, Luana, Sloan, Jennifer, McFadden, Deborah E., Langlois, Sylvie, von Dadelszen, Peter
Published in Prenatal diagnosis (01.01.2010)
Published in Prenatal diagnosis (01.01.2010)
Get full text
Journal Article
Evaluation of Prenatally Diagnosed Structural Congenital Anomalies
Gagnon, Alain, MD, Wilson, R. Douglas, MD, Allen, Victoria M., MD, Audibert, François, MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Désilets, Valerie A., MD, Johnson, Jo-Ann, MD, Langlois, Sylvie, MD, Murphy-Kaulbeck, Lynn, MD, Wyatt, Philip, MD
Published in Journal of obstetrics and gynaecology Canada (01.09.2009)
Published in Journal of obstetrics and gynaecology Canada (01.09.2009)
Get full text
Journal Article