N
Nicole Martin
Researcher at University of Toronto
Publications - 20
Citations - 498
Nicole Martin is an academic researcher from University of Toronto. The author has contributed to research in topics: Prenatal diagnosis & Population. The author has an hindex of 8, co-authored 18 publications receiving 385 citations. Previous affiliations of Nicole Martin include University of Melbourne.
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Journal ArticleDOI
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaela Yuen,Sarah A. Sandaradura,James J. Dowling,James J. Dowling,Alla S. Kostyukova,Natalia Moroz,Kate G. R. Quinlan,Vilma Lotta Lehtokari,Gianina Ravenscroft,Emily J. Todd,Ozge Ceyhan-Birsoy,David S. Gokhin,Jérome Maluenda,Monkol Lek,Monkol Lek,Flora Nolent,Christopher T. Pappas,Stefanie M. Novak,Adele D'Amico,Edoardo Malfatti,Brett Thomas,Brett Thomas,Stacey Gabriel,Namrata Gupta,Mark J. Daly,Mark J. Daly,Biljana Ilkovski,Peter J. Houweling,Peter J. Houweling,Ann E. Davidson,Ann E. Davidson,Lindsay C. Swanson,Catherine A. Brownstein,Vandana Gupta,Livija Medne,Patrick Shannon,Nicole Martin,David P. Bick,Anders Flisberg,Eva Holmberg,Peter Van den Bergh,Pablo Lapunzina,Leigh B. Waddell,Darcée D. Sloboda,Enrico Bertini,David Chitayat,William R. Telfer,Annie Laquerrière,Carol C. Gregorio,Coen A.C. Ottenheijm,Carsten G. Bönnemann,Katarina Pelin,Alan H. Beggs,Yukiko K. Hayashi,Norma B. Romero,Nigel G. Laing,Ichizo Nishino,Carina Wallgren-Pettersson,Judith Melki,Velia M. Fowler,Daniel G. MacArthur,Daniel G. MacArthur,Kathryn N. North,Kathryn N. North,Kathryn N. North,Nigel F. Clarke +65 more
TL;DR: It is demonstrated that mutations in the gene encoding L MOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.
Journal ArticleDOI
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Ghayda M. Mirzaa,Andrew E. Timms,Valerio Conti,Evan A. Boyle,Katta M. Girisha,Beth Martin,Martin Kircher,Carissa Olds,Jane Juusola,Sarah Collins,Kaylee Park,Melissa T. Carter,Ian A. Glass,Inge Krägeloh-Mann,David Chitayat,Aditi Shah Parikh,Rachael Bradshaw,Erin Torti,Stephen R. Braddock,Leah W. Burke,Sondhya Ghedia,Mark J. Stephan,Fiona Stewart,Chitra Prasad,Melanie Napier,Sulagna C. Saitta,Rachel Straussberg,Michael T. Gabbett,Bridget C. O’Connor,Catherine E. Keegan,Lim Jiin Yin,Angeline Hwei Meeng Lai,Nicole Martin,Margaret L. McKinnon,Marie-Claude Addor,Luigi Boccuto,Charles E. Schwartz,Agustina Lanoel,Robert L. Conway,Koenraad Devriendt,Katrina Tatton-Brown,Mary Ella M Pierpont,Michael Painter,Lisa Worgan,James D. Reggin,James D. Reggin,Raoul C.M. Hennekam,Karen D. Tsuchiya,Colin C. Pritchard,Mariana Aracena,Karen W. Gripp,Maria R. Cordisco,Hilde Van Esch,Livia Garavelli,Cynthia J. Curry,Anne Goriely,Hulya Kayserilli,Jay Shendure,Jay Shendure,John Graham,Renzo Guerrini,William B. Dobyns +61 more
TL;DR: The molecular data, combined with review of the literature, show that PIK3CA-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.
Journal ArticleDOI
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy: corrigendum
Michaela Yuen,Sarah A. Sandaradura,James J. Dowling,Alla S. Kostyukova,Natalia Moroz,Kate G. R. Quinlan,Vilma-Lotta Lehtokari,Gianina Ravenscroft,Emily J. Todd,Ozge Ceyhan-Birsoy,David S. Gokhin,Jérome Maluenda,Monkol Lek,Flora Nolent,Christopher T. Pappas,Stefanie M. Novak,Adele D'Amico,Edoardo Malfatti,Brett Thomas,Stacey Gabriel,Namrata Gupta,Mark J. Daly,Biljana Ilkovski,Peter J. Houweling,Ann E. Davidson,Lindsay C. Swanson,Catherine A. Brownstein,Vandana Gupta,Livija Medne,Patrick Shannon,Nicole Martin,David P. Bick,Anders Flisberg,Eva Holmberg,Peter Van den Bergh,Pablo Lapunzina,Leigh B. Waddell,Darcée D. Sloboda,Enrico Bertini,David Chitayat,William R. Telfer,Annie Laquerrière,Carol C. Gregorio,Coen A.C. Ottenheijm,Carsten G. Bönnemann,Katarina Pelin,Alan H. Beggs,Yukiko K. Hayashi,Norma B. Romero,Nigel G. Laing,Ichizo Nishino,Carina Wallgren-Pettersson,Judith Melki,Velia M. Fowler,Daniel G. MacArthur,Kathryn N. North,Nigel F. Clarke +56 more
Journal ArticleDOI
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
Kristin D. Kernohan,Arran McBride,Yanwei Xi,Nicole Martin,Jeremy Schwartzentruber,David A. Dyment,Jacek Majewski,Susan Blaser,Kym M. Boycott,David Chitayat +9 more
TL;DR: The findings confirm the recent disease association of PRMT7, expand the phenotypic manifestations of this disorder and provide insight into the molecular pathogenesis of this new condition.
Journal ArticleDOI
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
Anthea Lindquist,Anthea Lindquist,Lisa Hui,A Poulton,E Kluckow,B. Hutchinson,Mark D. Pertile,L. Bonacquisto,L. Gugasyan,A Kulkarni,J Harraway,A Howden,R. McCoy,F. da Silva Costa,F. da Silva Costa,Melody Menezes,Ricardo Palma-Dias,Ricardo Palma-Dias,Debbie Nisbet,Debbie Nisbet,Nicole Martin,Michael T. Bethune,Zeffie Poulakis,Zeffie Poulakis,Jane Halliday +24 more
TL;DR: To perform individual record linkage of women undergoing screening with cell‐free DNA, combined first‐trimester screening (CFTS), second-trimester serum screening (STSS), and/or prenatal and postnatal cytogenetic testing with the aim to obtain population‐based estimates of utilization of prenatal screening and invasive diagnosis.