Basic concepts of epigenetics
Inbar-Feigenberg, Michal, M.D, Choufani, Sanaa, Ph.D, Butcher, Darci T., Ph.D, Roifman, Maian, M.D, Weksberg, Rosanna, M.D., Ph.D
Published in Fertility and sterility (01.03.2013)
Published in Fertility and sterility (01.03.2013)
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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K C, Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L, Herbrick, Jo-Anne, Blencowe, Benjamin J, Roifman, Chaim M, Scherer, Stephen W
Published in Nature communications (02.11.2015)
Published in Nature communications (02.11.2015)
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P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity
Mackley, Michael, Silver, Rachel, Watkins, Nicholas, Greenfeld, Elena, Redmond, Sarah, Zhang, Hui Jue, Roifman, Maian, Chitayat, David
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Challenges experienced by genetic counselors while they provided counseling about mosaic embryos
Moran, Olivia M, Flamenbaum, Kayla, Myles Reid, Diane, McCuaig, Jeanna M, Babul-Hirji, Riyana, Chitayat, David, Roifman, Maian
Published in F&S Reports (Online) (01.12.2023)
Published in F&S Reports (Online) (01.12.2023)
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Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
Yang, Liying, Shannon, Patrick, Silver, Rachel, Roifman, Maian, Yates, Carin, Chitayat, David
Published in Prenatal diagnosis (01.05.2024)
Published in Prenatal diagnosis (01.05.2024)
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Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome
Ashwal, Eran, Blaser, Susan, Leckie, Ashley, Kajal, Dilkash, Krishnan, Pradeep, Chong, Karen, Roifman, Maian, Toi, Ants, Chitayat, David
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth
Published in American journal of human genetics (07.09.2017)
Published in American journal of human genetics (07.09.2017)
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Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies
Wang, Yiming, Greenfeld, Elena, Watkins, Nicholas, Belesiotis, Peter, Zaidi, Syed H., Marshall, Christian, Thiruvahindrapuram, Bhooma, Shannon, Patrick, Roifman, Maian, Chong, Karen, Chitayat, David, Stavropoulos, Dimitri James, Noor, Abdul
Published in Prenatal diagnosis (01.06.2022)
Published in Prenatal diagnosis (01.06.2022)
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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Building Healthy Babies: A Mixed-Methods Needs Assessment for a Pre-Conception Program in Ontario
Li, Angela, Mehra, Vrati M., Jones, Claire, Selk, Amanda, Ray, Joel, Morson, Natalie, Cohen, Eyal, Roifman, Maian, Snelgrove, John W., Greenblatt, Ellen M.
Published in Journal of obstetrics and gynaecology Canada (01.06.2024)
Published in Journal of obstetrics and gynaecology Canada (01.06.2024)
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919: Impact of introduction of NIPT on uptake of genetic testing in fetuses with CNS anomalies
Altoukhi, Samar, Chitayat, David, Keunen, Johannes, Roifman, Maian, Seaward, Gareth, Windrim, Rory, Ryan, Greg, Van Mieghem, Tim
Published in American journal of obstetrics and gynecology (01.01.2019)
Published in American journal of obstetrics and gynecology (01.01.2019)
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Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction
Roifman, Maian, Choufani, Sanaa, Turinsky, Andrei L, Drewlo, Sascha, Keating, Sarah, Brudno, Michael, Kingdom, John, Weksberg, Rosanna
Published in Clinical epigenetics (21.06.2016)
Published in Clinical epigenetics (21.06.2016)
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Heterozygous NOTCH1 deletion associated with variable congenital heart defects
Roifman, Maian, Chung, Brian Hon Yin, Reid, Diane Myles, Teitelbaum, Ronni, Martin, Nicole, Nield, Lynne E., Thompson, Megan, Shannon, Patrick, Chitayat, David
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine
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 (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
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A large data resource of genomic copy number variation across neurodevelopmental disorders
Zarrei, Mehdi, Burton, Christie L, Engchuan, Worrawat, Young, Edwin J, Higginbotham, Edward J, MacDonald, Jeffrey R, Trost, Brett, Chan, Ada J S, Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A, Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V, Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L, Yuen, Ryan K C, Buchanan, Janet A, Vorstman, Jacob A S, Marshall, Christian R, Wintle, Richard F, Rosenberg, David R, Hanna, Gregory L, Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A, Carter, Melissa T, Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D, Bassett, Anne S, Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J, Anagnostou, Evdokia, Scherer, Stephen W
Published in Npj genomic medicine (07.10.2019)
Published in Npj genomic medicine (07.10.2019)
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Journal Article
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
Stanley, Kaitlin J, Kalbfleisch, Kelsey J, Moran, Olivia M, Chaturvedi, Rajiv R, Roifman, Maian, Chen, Xin, Manshaei, Roozbeh, Martin, Nicole, McDermott, Simina, McNiven, Vanda, Myles-Reid, Diane, Nield, Lynne E, Reuter, Miriam S, Schwartz, Marci L B, Shannon, Patrick, Silver, Rachel, Somerville, Cherith, Teitelbaum, Ronni, Zahavich, Laura, Bassett, Anne S, Kim, Raymond H, Mital, Seema, Chitayat, David, Jobling, Rebekah K
Published in European journal of human genetics : EJHG (01.07.2024)
Published in European journal of human genetics : EJHG (01.07.2024)
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Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies
Al Toukhi, Samar, Chitayat, David, Keunen, Johannes, Roifman, Maian, Seaward, Gareth, Windrim, Rory, Ryan, Greg, Van Mieghem, Tim
Published in Prenatal diagnosis (01.06.2019)
Published in Prenatal diagnosis (01.06.2019)
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The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li, Dong, Ahrens‐Nicklas, Rebecca C., Baker, Janice, Bhambhani, Vikas, Calhoun, Amy, Cohen, Julie S., Deardorff, Matthew A., Fernández‐Jaén, Alberto, Kamien, Benjamin, Jain, Mahim, Mckenzie, Fiona, Mintz, Mark, Motter, Constance, Niles, Kirsten, Ritter, Alyssa, Rogers, Curtis, Roifman, Maian, Townshend, Sharron, Ward‐Melver, Catherine, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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