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Credit Name
Martin B Delatycki
Full Name
Delatycki, Martin B
 
Department
 
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Publications

Results 1-20 of 59 (Search time: 0.012 seconds).

Publication YearTitleAuthor(s)
115-Jan-2021The 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 
2Dec-2020A 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
3Nov-2020Evaluating 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
427-Oct-2020Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.Trevis, Krysta J; Brown, Natasha J; Green, Cherie C; Lockhart, Paul J; Desai, Tarishi; Vick, Tanya; Anderson, Vicki; Pua, Emmanuel P K; Bahlo, Melanie; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah J
521-Oct-2020Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E
615-Oct-2020Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin B ; Lamont, Phillipa J; Chan, Sophelia Hs; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, George; Ghedia, Sondhya; Chao, Katherine; O'Donnell-Luria, Anne; Laing, Nigel G; Davis, Mark R
71-Oct-2020Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E
814-May-2020Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data.Rafehi, Haloom; Szmulewicz, David J; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie
9Apr-2020Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.Shishegar, Rosita; Harding, Ian H; Corben, Louise A; Delatycki, Martin B ; Storey, Elsdon; Egan, Gary F; Georgiou-Karistianis, Nellie
10Jan-2020Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.Wallis, Mathew J ; Boys, Amber; Tassano, Elisa; Delatycki, Martin B 
11Dec-2019A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.Tan, Tiong Yang; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Fanjul-Fernandez, Miriam; Marum, Justine E; Kumar, Vanessa Siva; Stark, Zornitza; Yeung, Alison; Brown, Natasha J; Stutterd, Chloe; Delatycki, Martin B ; Sadedin, Simon; Martyn, Melissa; Goranitis, Ilias; Thorne, Natalie; Gaff, Clara L; White, Susan M
123-Jul-2019Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.Rafehi, Haloom; Szmulewicz, David J; Bennett, Mark F; Sobreira, Nara L M; Pope, Kate; Smith, Katherine R; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A; Barcina, María García; Breen, David P; Chancellor, Andrew M; Cremer, Phillip D; Delatycki, Martin B ; Fogel, Brent L; Hackett, Anna; Halmagyi, G Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R D; Wilson, Michael A; Zee, David S; Valle, David; Amor, David J; Bahlo, Melanie; Lockhart, Paul J
132019Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin B ; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E ; Dinger, Marcel E; Roscioli, Tony
146-Dec-2018Detecting 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
15Dec-2017Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.Ong, Sim Y; Gurrin, Lyle C; Dolling, Lara; Dixon, Jeanette; Nicoll, Amanda J; Wolthuizen, Michelle; Wood, Erica M; Anderson, Gregory J; Ramm, Grant A; Allen, Katrina J; Olynyk, John K; Crawford, Darrell; Ramm, Louise E; Gow, Paul J ; Durrant, Simon; Powell, Lawrie W; Delatycki, Martin B 
16Dec-2017Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.Metcalfe, Sylvia A; Martyn, Melissa; Ames, Alice; Anderson, Vicki; Archibald, Alison D; Carter, Rob; Cohen, Jonathan; Cotter, Megan ; GenCouns, M; Dang, William; Delatycki, Martin B ; Donath, Susan; Edwards, Samantha; Educ, PGrad Dip; Forbes, Robin; Gavrila, Mioara; MedSci, M; Halliday, Jane; Hickerton, Chriselle; Hill, Melissa; Jacobs, Lorilli; Ultrasound, PGrad Dip; Petrou, Vicki; Plunkett, Loren; Sheffield, Leslie; Racp, F; Thornton, Alison; Couns, Grad Dip Gen; Younie, Sandra; Econ, PGrad Dip Hlth; Emery, Jon D
17Oct-2017Dysphagia in Friedreich Ataxia.Keage, Megan J; Delatycki, Martin B ; Gupta, Isabelle; Corben, Louise A; Vogel, Adam P
18Aug-2017Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study.Harding, Ian H; Corben, Louise A; Delatycki, Martin B ; Stagnitti, Monique R; Storey, Elsdon; Egan, Gary F; Georgiou-Karistianis, Nellie
19Jul-2017A longitudinal study of the SF-36 version 2 in Friedreich ataxiaTai, Geneieve; Corben, Louise A; Yiu, Eppie M; Delatycki, Martin B 
20Jun-2017A novel mechanism for human cardiac Ankyrin-B syndrome due to reciprocal chromosomal translocationHuq, Aamira J; Pertile, MD; Davis, AM; Landon, H; James, PA; Kline, CF; Vohra, J; Mohler, PJ; Delatycki, Martin B