|
| | Publication Year | Title | Author(s) |
| 21 | Jun-2016 | Congenital biparietal foramina presenting with multiple concussions. | Abdul Jalil, Muhammad Fahmi; Russell, Jeremy; Delatycki, Martin B ; Gonzalvo, Augusto |
| 22 | 30-Nov-2014 | Consensus clinical management guidelines for Friedreich ataxia. | Corben, Louise A; Lynch, David; Pandolfo, Massimo; Schulz, Jörg B; Delatycki, Martin B |
| 23 | 8-Sep-2021 | Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. | Murali, Krithika; Dwarte, Tanya M; Nikfarjam, Mehrdad ; Tucker, Katherine M; Vaughan, Rhys B ; Efthymiou, Marios ; Collins, Allison L ; Spigelman, Allan D; Salmon, Lucinda ; Johns, Amber L; Williams, David B; Delatycki, Martin B ; John, Thomas ; Stoita, Alina |
| 24 | Dec-2020 | A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients. | Yeung, Alison; Tan, Natalie B; Tan, Tiong Y; Stark, Zornitza; Brown, Natasha; Hunter, Matthew F; Delatycki, Martin B ; Stutterd, Chloe; Savarirayan, Ravi; Mcgillivray, George; Stapleton, Rachel; Kumble, Smitha; Downie, Lilian; Regan, Matthew; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Brett, Gemma R; Jarmolowicz, Anna; Prawer, Yael; Valente, Giulia M ; Smagarinsky, Yana; Martyn, Melissa; McEwan, Callum; Goranitis, Ilias; Gaff, Clara; White, Susan M |
| 25 | 6-Dec-2018 | Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. | Tankard, Rick M; Bennett, Mark F; Degorski, Peter; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie |
| 26 | Oct-2017 | Dysphagia in Friedreich Ataxia. | Keage, Megan J; Delatycki, Martin B ; Gupta, Isabelle; Corben, Louise A; Vogel, Adam P |
| 27 | 30-Nov-2023 | Endophenotyping social cognition in the broader autism phenotype. | Pua, Emmanuel Peng Kiat; Desai, Tarishi; Green, Cherie; Trevis, Krysta; Brown, Natasha; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah |
| 28 | 2-Aug-2010 | Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. | Modra, Lucy J ; Massie, R John; Delatycki, Martin B |
| 29 | 1-Feb-2012 | The ethics of screening for disease. | Delatycki, Martin B |
| 30 | Nov-2020 | Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. | Tan, Natalie B; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B ; Yeung, Alison; Hunter, Matthew F; Amor, David J; Brown, Natasha J; Stutterd, Chloe A ; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lynn S; White, Susan M; Lunke, Sebastian; Tan, Tiong Y |
| 31 | 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 |
| 32 | Apr-2021 | Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis. | Valente, Giulia M ; Amor, David J; Ioannou, Liane J; Archibald, Alison D |
| 33 | 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 |
| 34 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | Fanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B ; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E ; Lockhart, Paul J |
| 35 | Jan-2016 | Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: the IMAGE-FRDA study | Harding, Ian H; Corben, Louise A; Storey, Elsdon; Egan, Gary F; Stagnitti, Monique R; Poudel, Govinda R; Delatycki, Martin B ; Georgiou-Karistianis, Nellie |
| 36 | Jul-2016 | Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia. | Milne, Sarah C; Corben, Louise A; Yiu, Eppie; Delatycki, Martin B ; Georgiou-Karistianis, Nellie |
| 37 | 2018 | Genetic Counseling in the Era of Genomics: What's all the Fuss about? | Brett, Gemma R; Wilkins, Ella J; Creed, Emma T; West, Kirsty; Jarmolowicz, Anna; Valente, Giulia M ; Prawer, Yael; Lynch, Elly; Macciocca, Ivan |
| 38 | 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 |
| 39 | 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 |
| 40 | 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 |
