Not logged in Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease Lee, Richard G.; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Timothy; 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.; Klinken, Jan Bert; Ferdinandusse, Sacha; Zhou, Ying; Walsh, Rebecca; Marcellin, Esteban; Thorburn, David R.; Rosciolli, Tony; Fletcher, Janice; Rackham, Oliver; Vaz, Frederic M.; Reid, Gavin E.; Filipovska, Aleksandra Share Save
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children Riley, Lisa G.; Nafisinia, Michael; Menezes, Minal J.; Nambiar, Reta; Williams, Andrew; Barnes, Elizabeth H.; Selvanathan, Arthavan; Lichkus, Kate; Bratkovic, Drago; Yaplito-Lee, Joy; Bhattacharya, Kaustuv; Ellaway, Carolyn; Kava, Maina; Balasubramaniam, Shanti; Christodoulou, John Share Save
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T. Share Save
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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning Sajeev, Mona; Chin, Sharon; Ho, Gladys; Bennetts, Bruce; Sankaran, Bindu Parayil; Gutierrez, Bea; Devanapalli, Beena; Tolun, Adviye Ayper; Wiley, Veronica; Fletcher, Janice; Fuller, Maria; Balasubramaniam, Shanti Share Save
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R. Share Save
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction Wintjes, Liesbeth T. M.; Kava, Maina; van den Brandt, Frans A.; van den Brand, Mariel A. M.; Lapina, Oksana; Bliksrud, Yngve T.; Kulseth, Mari A.; Amundsen, Silja S.; Selberg, Terje R.; Ybema-Antoine, Marion; Tutakhel, Omar A. Z.; Greed, Lawrence; Thorburn, David R.; Tangeraas, Trine; Balasubramaniam, Shanti; Rodenburg, Richard J. T. Share Save
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants Di Zanni, Eleonora; Palagano, Eleonora; Lagostena, Laura; Strina, Dario; Rehman, Asma; Abinun, Mario; De Somer, Lien; Martire, Baldassarre; Brown, Justin; Kariminejad, Ariana; Balasubramanian, Shanti; Baynam, Gareth; Gurrieri, Fiorella; Pisanti, Maria A.; De Maggio, Ilaria; Abboud, Miguel R.; Chiesa, Robert; Burren, Christine P.; Villa, Anna; Sobacchi, Cristina; Picollo, Alessandra Share Save
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Minoche, Andre E.; Puttick, Clare; Thorburn, David R.; Rius, Rocio; Compton, Alison G.; Menezes, Minal J.; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E.; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John Share Save
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants 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 Share Save
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Larson, Austin A.; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C.; Marom, Ronit; Graham, Brett H.; Diaz, George A.; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Rutledge, S. Lane; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K. L.; Weisfeld-Adams, James D. Share Save
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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, 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; Hoerster, 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. Share Save
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder Heimer, Gali; Keraetaer, Juha M.; Riley, Lisa G.; Balasubramaniam, Shanti; Eyal, Eran; Pietikaeinen, Laura P.; Hiltunen, J. Kalervo; Marek-Yagel, Dina; Hamada, Jeffrey; Gregory, Allison; Rogers, Caleb; Hogarth, Penelope; Nance, Martha A.; Shalva, Nechama; Veber, Alvit; Tzadok, Michal; Nissenkorn, Andreea; Tonduti, Davide; Renaldo, Florence; Kraoua, Ichraf; Panteghini, Celeste; Valletta, Lorella; Garavaglia, Barbara; Cowley, Mark J.; Gayevskiy, Velimir; Roscioli, Tony; Silberstein, Jonathon M.; Hoffmann, Chen; Raas-Rothschild, Annick; Tiranti, Valeria; Anikster, Yair; Christodoulou, John; Kastaniotis, Alexander J.; Ben-Zeev, Bruria; Hayflick, Susan J. Share Save
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome Duff, Rachael M.; Shearwood, Anne-Marie J.; Ermer, Judith; Rossetti, Giulia; Gooding, Rebecca; Richman, Tara R.; Balasubramaniam, Shanti; Thorburn, David R.; Rackham, Oliver; Lamont, Phillipa J.; Filipovska, Aleksandra Share Save
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI) Choy, Yew Sing; Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Fietz, Michael; Fu, Antony; Inwood, Anita; Jin, Dong-Kyu; Kim, Ok-Hwa; Kosuga, Motomichi; Kwun, Young Hee; Lin, Hsiang-Yu; Lin, Shuan-Pei; Mendelsohn, Nancy J.; Okuyama, Torayuki; Samion, Hasri; Tan, Adeline; Tanaka, Akemi; Thamkunanon, Verasak; Thong, Meow-Keong; Toh, Teck-Hock; Yang, Albert D.; McGill, Jim Share Save
Overcoming the barriers to diagnosis of Morquio A syndrome Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Choy, Yew Sing; Fietz, Michael; Fu, Antony; Jin, Dong Kyu; Kim, Ok-Hwa; Kosuga, Motomichi; Kwun, Young Hee; Inwood, Anita; Lin, Hsiang-Yu; McGill, Jim; Mendelsohn, Nancy J.; Okuyama, Torayuki; Samion, Hasri; Tan, Adeline; Tanaka, Akemi; Thamkunanon, Verasak; Toh, Teck-Hock; Yang, Albert D.; Lin, Shuan-Pei Share Save
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function Bjursell, Magnus K.; Blom, Henk J.; Cayuela, Jordi Asin; Engvall, Martin L.; Lesko, Nicole; Balasubramaniam, Shanti; Brandberg, Goran; Halldin, Maria; Falkenberg, Maria; Jakobs, Cornelis; Smith, Desiree; Struys, Eduard; von Dobeln, Ulrika; Gustafsson, Claes M.; Lundeberg, Joakim; Wedell, Anna Share Save
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