Five ways to wellbeing at the zoo: improving human health and connection to nature

por Rose, Paul, Riley, Lisa
Publicado 2023

Expanding the role of the future zoo: Wellbeing should become the fifth aim for modern zoos

por Rose, Paul E., Riley, Lisa M.
Publicado 2022

Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models

por Haase, Florencia D., Coorey, Bronte, Riley, Lisa, Cantrill, Laurence C., Tam, Patrick P. L., Gold, Wendy A.
Publicado 2021

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

por Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John
Publicado 2017

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

por Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.
Publicado 2014

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

por Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Publicado 2013

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

por Bustos, Francisco, Espejo-Serrano, Carmen, Segarra-Fas, Anna, Toth, Rachel, Eaton, Alison J., Kernohan, Kristin D., Wilson, Meredith J., Riley, Lisa G., Findlay, Greg M.
Publicado 2021

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

por Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M., Grigg, John R., Parekh, Darshan, Riley, Lisa G., Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V.
Publicado 2022

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder

por Niaz, Aram, Truong, Jia, Manoleras, Annabel, Fox, Lucy C., Blombery, Piers, Vasireddy, Raja S., Pickett, Hilda A., Curtin, Julie A., Barbaro, Pasquale M., Rodgers, Jonathan, Roy, John, Riley, Lisa G., Holien, Jessica K., Cohen, Scott B., Bryan, Tracy M.
Publicado 2022

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

por Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John
Publicado 2023

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

por Rius, Rocio, Bennett, Neal K., Bhattacharya, Kaustuv, Riley, Lisa G., Yüksel, Zafer, Formosa, Luke E., Compton, Alison G., Dale, Russell C., Cowley, Mark J., Gayevskiy, Velimir, Al Tala, Saeed M., Almehery, Abdulrahman A., Ryan, Michael T., Thorburn, David R., Nakamura, Ken, Christodoulou, John
Publicado 2022

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

por Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
Publicado 2021

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

por Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John
Publicado 2019

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

por Lee, Richard G, Balasubramaniam, Shanti, Stentenbach, Maike, Kralj, Tom, McCubbin, Tim, Padman, Benjamin, Smith, Janine, Riley, Lisa G, Priyadarshi, Archana, Peng, Liuyu, Nuske, Madison R, Webster, Richard, Peacock, Ken, Roberts, Philip, Stark, Zornitza, Lemire, Gabrielle, Ito, Yoko A, Boycott, Kym M, Geraghty, Michael T, van Klinken, Jan Bert, Ferdinandusse, Sacha, Zhou, Ying, Walsh, Rebecca, Marcellin, Esteban, Thorburn, David R, Rosciolli, Tony, Fletcher, Janice, Rackham, Oliver, Vaz, Frédéric M, Reid, Gavin E, Filipovska, Aleksandra
Publicado 2022

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

por Riley, Lisa G., Heeney, Matthew M., Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R., Zhou, Ronghao, Hale, Gregory A., Hilliard, Lee M., Kaplan, Joel A., Kwiatkowski, Janet L., Sieff, Colin A., Steensma, David P., Rennings, Alexander J., Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J., Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Y. J., Bottomley, Sylvia S., Sanchez, Mayka, Huls, Gerwin, Swinkels, Dorine W., Christodoulou, John, Fleming, Mark D.
Publicado 2018

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado 2017