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Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice Matuszek, Zaneta; Arbab, Mandana; Kesavan, Maheswaran; Hsu, Alvin; Roy, Jennie C. L.; Zhao, Jing; Yu, Tian; Weisburd, Ben; Newby, Gregory A.; Doherty, Neil J.; Wu, Muzhou; Shibata, Shota; Cristian, Ana; Tao, Y. Allen; Fearnley, Liam G.; Bahlo, Melanie; Rehm, Heidi L.; Xie, Jun; Gao, Guangping; Mouro Pinto, Ricardo; Liu, David R. Share Save
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Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy Bennett, Mark F.; Corbett, Mark A.; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L.; Cameron, Jillian M.; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G.; Ibanez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F.; Bahlo, Melanie Share Save
Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants Gerring, Zachary F.; Bhalala, Oneil G.; Fearnley, Liam G.; Oikari, Lotta E.; White, Anthony R.; Derks, Eske M.; Watson, Rosie; Yassi, Nawaf; Bahlo, Melanie; Reay, William R. Share Save
Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease Wang, Longfei; Han, Jiru; Fearnley, Liam G.; Milton, Michael; Rafehi, Haloom; Reid, Joshua; Gerring, Zachary F.; Masaldan, Shashank; Lang, Tali; Speed, Terence P.; Bahlo, Melanie Share Save
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024) Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina Share Save
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele Share Save
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023) Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy HC.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J. Share Save
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia Henden, Lyndal; Fearnley, Liam G.; Grima, Natalie; McCann, Emily P.; Dobson-Stone, Carol; Fitzpatrick, Lauren; Friend, Kathryn; Hobson, Lynne; Fat, Sandrine Chan Moi; Rowe, Dominic B.; D'Silva, Susan; Kwok, John B.; Halliday, Glenda M.; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Pamphlett, Roger; Adams, Lorel; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L. Share Save
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy H. C.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J. Share Save
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure Grinton, Bronwyn E.; Robertson, Erandee; Fearnley, Liam G.; Scheffer, Ingrid E.; Marson, Anthony G.; O'Brien, Terence J.; Pickrell, W. Owen; Rees, Mark, I; Sisodiya, Sanjay M.; Balding, David J.; Bennett, Mark F.; Bahlo, Melanie; Berkovic, Samuel F.; Oliver, Karen L. Share Save
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk Grima, Natalie; Henden, Lyndal; Fearnley, Liam G.; Rowe, Dominic B.; D'Silva, Susan; Pamphlett, Roger; Adams, Lorel; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L. Share Save
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Multi-level remodelling of chromatin underlying activation of human T cells Bediaga, Naiara G.; Coughlan, Hannah D.; Johanson, Timothy M.; Garnham, Alexandra L.; Naselli, Gaetano; Schroeder, Jan; Fearnley, Liam G.; Bandala-Sanchez, Esther; Allan, Rhys S.; Smyth, Gordon K.; Harrison, Leonard C. Share Save
An interaction map of circulating metabolites, immune gene networks, and their genetic regulation Nath, Artika P.; Ritchie, Scott C.; Byars, Sean G.; Fearnley, Liam G.; Havulinna, Aki S.; Joensuu, Anni; Kangas, Antti J.; Soininen, Pasi; Wennerstrom, Annika; Milani, Lili; Metspalu, Andres; Mannisto, Satu; Wurtz, Peter; Kettunen, Johannes; Raitoharju, Emma; Kahonen, Mika; Juonala, Markus; Palotie, Aarno; Ala-Korpela, Mika; Ripatti, Samuli; Lehtimaki, Terho; Abraham, Gad; Raitakari, Olli; Salomaa, Veikko; Perola, Markus; Inouye, Michael Share Save
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