Osteogenesis imperfecta - advancements in genetics and treatment

le Rossi, Vittoria, Lee, Brendan, Marom, Ronit
Foilsithe in Curr Opin Pediatr (2019)

Osteogenesis Imperfecta: An Update on Clinical Features and Therapies

le Marom, Ronit, Rabenhorst, Brien M., Morello, Roy
Foilsithe in Eur J Endocrinol (2020)

New Face for Chromatin-Related Mesenchymal Modulator: n-CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes

le SALOMON-KENT, RONIT, MAROM, RONIT, JOHN, SAM, DUNDR, MIROSLAV, SCHILTZ, LOUIS R., GUTIERREZ, JOSE, WORKMAN, JERRY, BENAYAHU, DAFNA, HAGER, GORDON L.
Foilsithe in J Cell Physiol (2015)

Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening

le Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.
Foilsithe in Mol Genet Metab (2017)

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation

le Lietman, Caressa D., Marom, Ronit, Munivez, Elda, Bertin, Terry K., Jiang, Ming-Ming, Chen, Yuqing, Dawson, Brian, Weis, MaryAnn, Eyre, David, Lee, Brendan
Foilsithe in J Bone Miner Res (2015)

Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy

le Abbott, Megan, Jain, Mahim, Pferdehirt, Rachel, Chen, Yuqing, Tran, Alyssa, Duz, Mehmet Bugrahan, Seven, Mehmet, Gibbs, Richard A., Muzny, Donna, Lee, Brendan, Marom, Ronit, Burrage, Lindsay C.
Foilsithe in Am J Med Genet A (2017)

Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension

le Wallace, Stephanie, Guo, Dong-chuan, Regalado, Ellen, Mellor-Crummey, Lauren, Banshad, Michael, Nickerson, Deborah A., Dauser, Robert, Hanchard, Neil, Marom, Ronit, Martin, Emil, Berka, Vladimir, Sharina, Iraida, Ganesan, Vijeya, Saunders, Dawn, Morris, Shaine, Milewicz, Dianna M.
Foilsithe in Clin Genet (2016)

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

le Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Foilsithe in Genet Med (2019)

A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

le Stroup, Bridget M, Marom, Ronit, Li, Xiaohui, Hsu, Chih-Wei, Chang, Cheng-Yen, Truong, Luan D, Dawson, Brian, Grafe, Ingo, Chen, Yuqing, Jiang, Ming-Ming, Lanza, Denise, Green, Jennie Rose, Sun, Qin, Barrish, J P, Ani, Safa, Christiansen, Audrey E, Seavitt, John R, Dickinson, Mary E, Kheradmand, Farrah, Heaney, Jason D, Lee, Brendan, Burrage, Lindsay C
Foilsithe in Hum Mol Genet (2020)

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

le Marom, Ronit, Jain, Mahim, Burrage, Lindsay C., Song, I-Wen, Graham, Brett H., Brown, Chester W., Stevens, Servi J.C., Stegmann, Alexander P.A., Gunter, Andrew T., Kaplan, Julie D., Gavrilova, Ralitza H., Shinawi, Marwan, Rosenfeld, Jill A., Bae, Yangjin, Tran, Alyssa A., Chen, Yuqing, Lu, James T., Gibbs, Richard A., Eng, Christine, Yang, Yaping, Rousseau, Justine, de Vries, Bert B.A., Campeau, Philippe M., Lee, Brendan
Foilsithe in Hum Mutat (2017)

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

le Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping, Wang, Xia
Foilsithe in Am J Hum Genet (2018)

Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

le Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.
Foilsithe in Hum Mutat (2019)

Identification of novel candidate disease genes from de novo exonic copy number variants

le Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Paweł
Foilsithe in Genome Med (2017)

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

le Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan
Foilsithe in EMBO J (2018)