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| | Publication Year | Title | Author(s) |
| 1 | 5-Jan-2023 | 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 Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B ; Bahlo, Melanie; Lockhart, Paul J |
| 2 | Jul-2022 | Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. | Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M; Ewenczyk, Claire; Davies, Kayli C; Lino-Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R E; van der Stelt, Ivo; Howell, Katherine B; Coutelier, Marie; Amor, David J; Mundwiller, Emeline; Guillot-Noël, Lena; Storey, Elsdon; Gardner, R J McKinlay; Wallis, Mathew J ; Brusco, Alfredo; Corti, Olga; Rötig, Agnès; Leventer, Richard J; Brice, Alexis; Delatycki, Martin B ; Stevanin, Giovanni; Lockhart, Paul J; Durr, Alexandra |
| 3 | 2022 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew J ; Jansen, Sandra; Weisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M; Ascher, David B; Schenck, Annette; Lockhart, Paul J; Christodoulou, John; Tan, Tiong Yang; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E ; Gardiner, Fiona J; Schneider, Amy L ; Muir, Alison M; Mefford, Heather C; Crunk, Amy; Heise, Elizabeth M; Millan, Francisca; Monaghan, Kristin G; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J; Boyce, Jessica O; Morgan, Angela T; Hildebrand, Michael S ; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári |
| 4 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 5 | 14-Oct-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L |
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