| | Publication Year | Title | Author(s) |
| 1 | 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 |
| 2 | Jan-2022 | 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 B ; 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 |
| 3 | Oct-2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | Stutterd, Chloe A ; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y; Archer, John S ; Leventer, Richard J; Amor, David J; Lukic, Vesna; Bahlo, Melanie; Gow, Paul J ; Lockhart, Paul J; van der Knaap, Marjo S; Delatycki, Martin B |
| 4 | Jan-2016 | Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. | Sim, Joe C; Scerri, Thomas; Fanjul-Fernández, Miriam; Riseley, Jessica R; Gillies, Greta; Pope, Kate; van Roozendaal, Hanna; Heng, Julian I; Mandelstam, Simone A; McGillivray, George; MacGregor, Duncan; Kannan, Lakshminarayanan; Maixner, Wirginia; Harvey, A Simon; Amor, David J; Delatycki, Martin B ; Crino, Peter B; Bahlo, Melanie; Lockhart, Paul J; Leventer, Richard J |
| 5 | 15-Apr-2015 | Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. | Leventer, Richard J; Scerri, Thomas; Marsh, Ashley P L; Pope, Kate; Gillies, Greta; Maixner, Wirginia; MacGregor, Duncan; Harvey, A Simon; Delatycki, Martin B ; Amor, David John; Crino, Peter B; Bahlo, Melanie; Lockhart, Paul J |
| 6 | 26-Nov-2014 | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. | Wilson, Gabrielle R; Sim, Joe C H; McLean, Catriona A; Giannandrea, Maila; Galea, Charles A; Riseley, Jessica R; Stephenson, Sarah E M; Fitzpatrick, Elizabeth; Haas, Stefan A; Pope, Kate; Hogan, Kirk J; Gregg, Ronald G; Bromhead, Catherine J; Wargowski, David S; Lawrence, Christopher H; James, Paul A; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P L; Mignogna, Maria L; Hayflick, Susan J; Leventer, Richard J; Delatycki, Martin B ; Mellick, George D; Kalscheuer, Vera M; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David John; Lockhart, Paul J |
| 7 | 28-Sep-2014 | Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. | Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C H; Smith, Katherine R; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J; Delatycki, Martin B ; Barbi, Gotthold; von Ameln, Simon; Högel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D; Hofmann, Kay; Thiele, Holger; Altmüller, Janine; Nürnberg, Gudrun; Nürnberg, Peter; Bahlo, Melanie; Martin, George M; Aalfs, Cora M; Oshima, Junko; Terzic, Janos; Amor, David John; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian |
| 8 | 9-Oct-2013 | Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. | Wilson, Gabrielle R; Sunley, Jasmine; Smith, Katherine R; Pope, Kate; Bromhead, Catherine J; Fitzpatrick, Elizabeth; Di Rocco, Maja; van Steensel, Maurice; Coman, David J; Leventer, Richard J; Delatycki, Martin B ; Amor, David John; Bahlo, Melanie; Lockhart, Paul J |