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M
Martin Delatycki
Murdoch Children’s Research Institute
11H-index
31Paper Count
407Citation Count
Published Papers 4
Publication Date
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.png)
Nature Genetics.png)
2025-10-22
0
OAAI
Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
Nature GeneticsIF29
2025-10-220OAAIReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein.png){kind=icon}
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SavePathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum2025-02-010Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
2025-02-010PREAI
Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, VeerleShareSaveLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)NATURE COMMUNICATIONS2020-10-214OAAIWang, 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; 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; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.
NATURE COMMUNICATIONSIF15.7
2020-10-214OAAIWang, 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; 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; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.ShareSaveAn audit of clinical service examining the uptake of genetic testing by at-risk family membersGENETICS IN MEDICINE2012-01-0117Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Skene, Loane; Aitken, MaryAnne
GENETICS IN MEDICINEIF6.2
2012-01-0117PREAI
Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Skene, Loane; Aitken, MaryAnneShareSaveResearch Directions
No research directions