Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

Por Mercimek-Mahmutoglu, Saadet, Sidky, Sarah, Hyland, Keith, Patel, Jaina, Donner, Elizabeth J, Logan, William, Mendoza-Londono, Roberto, Moharir, Mahendranath, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Yoon, Grace, Kyriakopoulou, Lianna
Publicado no Orphanet J Rare Dis (2015)

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

Por 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 BP, Mendoza-Londono, Roberto
Publicado no Eur J Hum Genet (2015)

Severe intellectual disability and autistic features associated with microduplication 2q23.1

Por Chung, Brian HY, Mullegama, Sureni, Marshall, Christian R, Lionel, Anath C, Weksberg, Rosanna, Dupuis, Lucie, Brick, Lauren, Li, Chumei, Scherer, Stephen W, Aradhya, Swaroop, Stavropoulos, D James, Elsea, Sarah H, Mendoza-Londono, Roberto
Publicado em 2012

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

Por 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 
Publicado em 2005

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

Por Faden, Maha, AlZahrani, Fatema, Mendoza-Londono, Roberto, Dupuis, Lucie, Hartley, Taila, Kannu, Peter, Raiman, Julian A., Howard, Andrew, Qin, Wen, Tetreault, Martine, Xi, Joan Qiongchao, Al-Thamer, Imadeddin, Maas, Richard L., Boycott, Kym, Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2015)

Generalized Metabolic Bone Disease in Neurofibromatosis Type I

Por Brunetti-Pierri, Nicola, Doty, Stephen B., Hicks, John, Phan, Kelly, Mendoza-Londono, Roberto, Blazo, Maria, Tran, Alyssa, Carter, Susan, Lewis, Richard Alan, Plon, Sharon E., Phillips, William A., Smith, E. O’Brian, Ellis, Kenneth J., Lee, Brendan
Publicado em 2008

E-selectin ligand–1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-β

Por Yang, Tao, Mendoza-Londono, Roberto, Lu, Huifang, Tao, Jianning, Li, Kaiyi, Keller, Bettina, Jiang, Ming Ming, Shah, Rina, Chen, Yuqing, Bertin, Terry K., Engin, Feyza, Dabovic, Branka, Rifkin, Daniel B., Hicks, John, Jamrich, Milan, Beaudet, Arthur L., Lee, Brendan
Publicado em 2010

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Por Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, Casas, Kari, Wilson, Patrick, Lee, Jiyun, Muneer, Razia, Leonard, Joe C, Ramji, Faridali G, Lachman, Ralph, Li, Shibo, Stankiewicz, Pawel, Lee, Brendan, Mulvihill, John J
Publicado em 2008

De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction

Por Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.
Publicado em 2010

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

Por Mendoza-Londono, Roberto, Fahiminiya, Somayyeh, Majewski, Jacek, Tétreault, Martine, Nadaf, Javad, Kannu, Peter, Sochett, Etienne, Howard, Andrew, Stimec, Jennifer, Dupuis, Lucie, Roschger, Paul, Klaushofer, Klaus, Palomo, Telma, Ouellet, Jean, Al-Jallad, Hadil, Mort, John S., Moffatt, Pierre, Boudko, Sergei, Bächinger, Hans-Peter, Rauch, Frank
Publicado no Am J Hum Genet (2015)

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Por Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.
Publicado no Am J Hum Genet (2016)

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Por Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
Publicado em 2007

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Por Rosenfeld, Jill A, Stephens, Lindsey E, Coppinger, Justine, Ballif, Blake C, Hoo, Joe J, French, Beatrice N, Banks, Valerie C, Smith, Wendy E, Manchester, David, Tsai, Anne Chun-Hui, Merrion, Katrina, Mendoza-Londono, Roberto, Dupuis, Lucie, Schultz, Roger, Torchia, Beth, Sahoo, Trilochan, Bejjani, Bassem, Weaver, David D, Shaffer, Lisa G
Publicado em 2011

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

Por 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
Publicado no J Med Genet (2015)

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Por Nakajima, Masahiro, Mizumoto, Shuji, Miyake, Noriko, Kogawa, Ryo, Iida, Aritoshi, Ito, Hironori, Kitoh, Hiroshi, Hirayama, Aya, Mitsubuchi, Hiroshi, Miyazaki, Osamu, Kosaki, Rika, Horikawa, Reiko, Lai, Angeline, Mendoza-Londono, Roberto, Dupuis, Lucie, Chitayat, David, Howard, Andrew, Leal, Gabriela F., Cavalcanti, Denise, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Watanabe, Shigehiko, Lausch, Ekkehart, Unger, Sheila, Bonafé, Luisa, Ohashi, Hirofumi, Superti-Furga, Andrea, Matsumoto, Naomichi, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Publicado em 2013

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Por Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H
Publicado em 2014

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Por Gray, Mary J., Kannu, Peter, Sharma, Swarkar, Neyt, Christine, Zhang, Dongping, Paria, Nandina, Daniel, Philip B., Whetstone, Heather, Sprenger, Hans-Georg, Hammerschmidt, Philipp, Weng, Angela, Dupuis, Lucie, Jobling, Rebekah, Mendoza-Londono, Roberto, Dray, Michael, Su, Peiqiang, Wilson, Megan J., Kapur, Raj P., McCarthy, Edward F., Alman, Benjamin A., Howard, Andrew, Somers, Gino R., Marshall, Christian R., Manners, Simon, Flanagan, Adrienne M., Rathjen, Karl E., Karol, Lori A., Crawford, Haemish, Markie, David M., Rios, Jonathan J., Wise, Carol A., Robertson, Stephen P.
Publicado no Am J Hum Genet (2015)

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Por Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valérie, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Publicado no Nat Genet (2014)

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Por Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.
Publicado no Am J Hum Genet (2017)