NSD1 mutations generate a genome-wide DNA methylation signature

by Choufani, S, Cytrynbaum, C, Chung, B H Y, Turinsky, A L, Grafodatskaya, D, Chen, Y A, Cohen, A S A, Dupuis, L, Butcher, D T, Siu, M T, Luk, H M, Lo, I F M, Lam, S T S, Caluseriu, O, Stavropoulos, D J, Reardon, W, Mendoza-Londono, R, Brudno, M, Gibson, W T, Chitayat, D, Weksberg, R
Published in Nature communications

Buschke-Ollendorff syndrome: a novel case series and systematic review

by Pope, V., Dupuis, L., Kannu, P., Mendoza-Londono, R., Sajic, D., So, J., Yoon, G., Lara-Corrales, I.
Published in British journal of dermatology (1951)

EE171 Time to Diagnosis and Cost Effectiveness of Whole Exome Sequencing (WES) Position in the Diagnostic Pathways of Patients with Suspected Rare Genetic Disease

by Degeling, K., Hayeems, R.Z., Tagimacruz, T., MacDonald, K.V., Seeger, T.A., Hartley, T., Boycott, K.M., Bernier, F.P., Mendoza-Londono, R., Marshall, D.
Published in Value in health

EE48 Cost-Effectiveness of Alternative Diagnostic Testing Pathways with Whole Exome Sequencing (WES) in a Rare Disease Patient Population: The Canadian Care-for-Rare SOLVE (SOLVE)...

by Degeling, K, Grazziotin Lago, L, Hayeems, RZ, Boycott, KM, Bernier, FP, Mendoza-Londono, R, Seeger, TA, Marshall, D
Published in Value in health

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation

by Napierala, Dobrawa, Garcia-Rojas, Xavier, Sam, Kathy, Wakui, Keiko, Chen, Connie, Mendoza-Londono, Roberto, Zhou, Guang, Zheng, Qiping, Lee, Brendan
Published in Molecular genetics and metabolism

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

by Mendoza-Londono, Roberto, Lammer, Edward, Watson, Rosemarie, Harper, John, Hatamochi, Atsushi, Hatamochi-Hayashi, Saori, Napierala, Dobrawa, Hermanns, Pia, Collins, Sinead, Roa, Benjamin B., Hedge, Madhuri R., Wakui, Keiko, Nguyen, Diep, Stockton, David W., Lee, Brendan
Published in American journal of human genetics

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

by Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S., Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R., Scherer, Stephen W., Rommens, Johanna M., Heon, Elise, Dror, Yigal
Published in Blood

Trio RNA sequencing in a cohort of medically complex children

by Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.
Published in American journal of human genetics

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

by Joynt, Alyssa C. M., Deshwar, Ashish R., Zon, Jessica, Dupuis, Lucie, Wherrett, Diane K., Mendoza‐Londono, Roberto
Published in Molecular genetics & genomic medicine

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

by Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
Published in European journal of human genetics : EJHG

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

by Al-Maawali, Almundher, Dupuis, Lucie, Blaser, Susan, Heon, Elise, Tarnopolsky, Mark, Al-Murshedi, Fathiya, Marshall, Christian R, Paton, Tara, Scherer, Stephen W, Roelofsen, Jeroen, van Kuilenburg, André B P, Mendoza-Londono, Roberto
Published in European journal of human genetics : EJHG

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

by Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Published in HGG advances

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

by Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Published in Genetics in medicine

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

by Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S, Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D, Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M Stephen, Stavropoulos, Dimitri J, Scherer, Stephen W, Mendoza-Londono, Roberto, Marshall, Christian R
Published in European journal of human genetics : EJHG

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

by Hirose, Takuo, Cabrera-Socorro, Alfredo, Chitayat, David, Lemonnier, Thomas, Féraud, Olivier, Cifuentes-Diaz, Carmen, Gervasi, Nicolas, Mombereau, Cedric, Ghosh, Tanay, Stoica, Loredana, Bacha, Jeanne d'Arc Al, Yamada, Hiroshi, Lauterbach, Marcel A, Guillon, Marc, Kaneko, Kiriko, Norris, Joy W, Siriwardena, Komudi, Blasér, Susan, Teillon, Jérémie, Mendoza-Londono, Roberto, Russeau, Marion, Hadoux, Julien, Ito, Sadayoshi, Corvol, Pierre, Matheus, Maria G, Holden, Kenton R, Takei, Kohji, Emiliani, Valentina, Bennaceur-Griscelli, Annelise, Schwartz, Charles E, Nguyen, Genevieve, Groszer, Matthias
Published in The Journal of clinical investigation

Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency

by Kashani, Paria, Marwaha, Ashish, Feanny, Stephen, Kim, Vy Hong-Diep, Atkinson, Adelle R., Leon-Ponte, Matilde, Mendoza-Londono, Roberto, Grunebaum, Eyal
Published in Immunologic research

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

by Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Published in Npj genomic medicine

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

by Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco E R, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M
Published in Molecular psychiatry

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions

by Ungar, Wendy J., Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, James Stavropoulos, D., Huang, Lijia, Jarinova, Olga, Wu, Vercancy, Tsiplova, Kate, Lau, Lynnette, Lee, Whiwon, Venkataramanan, Viji, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.
Published in Clinical therapeutics

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

by Priestley, Jessica R.C., Deshwar, Ashish R., Murthy, Harsha, D’Agostino, Maria D., Dupuis, Lucie, Gangaram, Balram, Gray, Christopher, Jobling, Rebekah, Pannia, Emanuela, Platzer, Konrad, Prescott, Katrina, Redman, Melody, Rippert, Alyssa L., Rosenfeld, Jill A., Scott, Daryl A., Wang, Yi W., Schmederer, Zelia, Dalal, Ashwin, Sarma, Asodu S., Skraban, Cara, Dowling, James J., Mendoza-Londono, Roberto, Slavotinek, Anne, Bhoj, Elizabeth J.
Published in Genetics in medicine