S
Stephen Petrou
Researcher at University of Melbourne
Publications - 3
Citations - 293
Stephen Petrou is an academic researcher from University of Melbourne. The author has contributed to research in topics: Exome & Copy-number variation. The author has an hindex of 3, co-authored 3 publications receiving 239 citations.
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Journal ArticleDOI
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Candace T. Myers,Jacinta M McMahon,Amy L Schneider,Slavé Petrovski,Slavé Petrovski,Andrew S. Allen,Gemma L. Carvill,Matthew Zemel,Julia Saykally,Amy Lacroix,Erin L. Heinzen,Georgina Hollingsworth,Marina Nikanorova,Mark A. Corbett,Jozef Gecz,David Coman,David Coman,Jeremy L. Freeman,Sophie Calvert,Deepak Gill,Patrick W. Carney,Tally Lerman-Sagie,Hugo Sampaio,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,Marvin Johnson,Ruben Kuzniecky,Anthony G Marson,Terence J. O'Brien,Ruth Ottman,Stephen Petrou,Annapurna Poduri,William O. Pickrell,Seo-Kyung Chung,Mark I. Rees,Elliott H. Sherr,Lynette G. Sadleir,David Goldstein,Daniel H. Lowenstein,Rikke S. Møller,Samuel F. Berkovic,Ingrid E. Scheffer,Heather C Mefford +46 more
TL;DR: The results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3 and report a mutation in IQSEC2.
Journal ArticleDOI
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Epilepsy Phenome,Andrew S. Allen,Samuel F. Berkovic,Bradley P. Coe,Joseph Cook,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Erin L. Heinzen,Marvin Johnson,Nik Krumm,Ruben Kuzniecky,Daniel H. Lowenstein,Anthony G Marson,Heather C Mefford,Ben Nelson,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Stephen Petrou,Slavé Petrovski,Annapurna Poduri,Archana Raja,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Bassel Abou-Khalil,Brian K. Alldredge,Eva Andermann,Frederick Andermann,Dina Amron,Jocelyn F. Bautista,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Simon Glynn,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Jack M. Parent,Kristen Park,Renée A. Shellhaas,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +74 more
TL;DR: Exome sequence data is used to identify putative de novo CNVs in 349 trios with IS or LGS and highlight novel candidate genes for IS and LGS.
Journal ArticleDOI
Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))
Silke Appenzeller,Rudi Balling,Nina Barišić,Stéphanie Baulac,Hande Caglayan,Dana Craiu,Peter De Jonghe,Christel Depienne,Petia Dimova,Tania Djémié,Padhraig Gormley,Renzo Guerrini,Ingo Helbig,Helle Hjalgrim,Dorota Hoffman-Zacharska,Johanna A. Jähn,Karl Martin Klein,Bobby P. C. Koeleman,Vladimir Komarek,Roland Krause,Gregor Kuhlenbäumer,Eric LeGuern,Anna-Elina Lehesjoki,Johannes R. Lemke,Holger Lerche,Tarja Linnankivi,Carla Marini,Patrick May,Rikke S. Møller,Hiltrud Muhle,Deb K. Pal,Aarno Palotie,Manuela Pendziwiat,Angela Robbiano,Filip Roelens,Felix Rosenow,Kaja Kristine Selmer,José M. Serratosa,Sanjay M. Sisodiya,Ulrich Stephani,Katalin Sterbova,Pasquale Striano,Arvid Suls,Tiina Talvik,Sarah von Spiczak,Yvonne G. Weber,Sarah Weckhuysen,Federico Zara,Bassel Abou-Khalil,Brian K. Alldredge,Eva Andermann,Frederick Andermann,Dina Amrom,Jocelyn F. Bautista,Samuel F. Berkovic,Judith Bluvstein,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Dennis J. Dlugos,Michael P. Epstein,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Tracy A. Glauser,Simon Glynn,Kevin Haas,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Ruben Kuzniecky,Daniel H. Lowenstein,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Ruth Ottman,Juliann M. Paolicchi,Jack M. Parent,Kristen Park,Annapurna Poduri,Lynette G. Sadleir,Ingrid E. Scheffer,Renée A. Shellhaas,Elliott H. Sherr,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer,Andrew S. Allen,Patrick Cossette,Norman Delanty,Evan E. Eichler,David Goldstein,Yujun Han,Erin L. Heinzen,Marvin Johnson,Anthony G Marson,Heather C Mefford,Sahar Esmaeeli Nieh,Terence J. O'Brien,Stephen Petrou,Slavé Petrovski,Elizabeth K. Ruzzo +120 more
TL;DR: In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron, and the authors regret the error.