A
Ann M. Flenniken
Researcher at Mount Sinai Hospital, Toronto
Publications - 25
Citations - 2261
Ann M. Flenniken is an academic researcher from Mount Sinai Hospital, Toronto. The author has contributed to research in topics: Gene & Candidate gene. The author has an hindex of 14, co-authored 20 publications receiving 1743 citations. Previous affiliations of Ann M. Flenniken include Hospital for Sick Children & Lunenfeld-Tanenbaum Research Institute.
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Journal ArticleDOI
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson,Ann M. Flenniken,Xiao Ji,Lydia Teboul,Michael D. Wong,Jacqueline K. White,Terrence F. Meehan,Wolfgang Weninger,Henrik Westerberg,Hibret A. Adissu,Candice N. Baker,Lynette Bower,James M. Brown,L. Brianna Caddle,Francesco Chiani,Dave Clary,James Cleak,Mark J. Daly,James M. Denegre,Brendan Doe,Mary E. Dolan,Sarah M. Edie,Helmut Fuchs,Valerie Gailus-Durner,Antonella Galli,Alessia Gambadoro,Juan Gallegos,Shiying Guo,Neil R. Horner,Chih-Wei Hsu,Sara Johnson,Sowmya Kalaga,Lance C. Keith,Louise Lanoue,Thomas N. Lawson,Monkol Lek,Monkol Lek,Manuel Mark,Susan Marschall,Jeremy Mason,Melissa L. McElwee,Susan Newbigging,Lauryl M. J. Nutter,Kevin A. Peterson,Ramiro Ramirez-Solis,Douglas J. Rowland,Edward Ryder,Kaitlin E. Samocha,Kaitlin E. Samocha,John R. Seavitt,Mohammed Selloum,Zsombor Szoke-Kovacs,Masaru Tamura,Amanda G. Trainor,Ilinca Tudose,Shigeharu Wakana,Jonathan Warren,Olivia Wendling,David B. West,Leeyean Wong,Atsushi Yoshiki,Daniel G. MacArthur,Daniel G. MacArthur,Glauco P. Tocchini-Valentini,Xiang Gao,Paul Flicek,Allan Bradley,William C. Skarnes,Monica J. Justice,Helen Parkinson,Mark W. Moore,Sara Wells,Robert E. Braun,Karen L. Svenson,Martin Hrabé de Angelis,Yann Herault,Timothy J. Mohun,Ann-Marie Mallon,R. Mark Henkelman,Steve D.M. Brown,David J. Adams,Kevin C K Lloyd,Colin McKerlie,Arthur L. Beaudet,Maja Bucan,Stephen A. Murray +85 more
TL;DR: It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.
Journal ArticleDOI
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
Ann M. Flenniken,Lucy R. Osborne,Lucy R. Osborne,Nicole M. Anderson,Nadia Ciliberti,Craig Fleming,Joanne E. I. Gittens,Xiang-Qun Gong,Lois B. Kelsey,Crystal S. Lounsbury,Luisa Moreno,Brian J. Nieman,Katie Peterson,Dawei Qu,Wendi A. Roscoe,Qing Shao,Dan Tong,Gregory I.L. Veitch,Irina Voronina,Igor Vukobradovic,Geoffrey A. Wood,Yonghong Zhu,Ralph A Zirngibl,Jane E. Aubin,Jane E. Aubin,Donglin Bai,Benoit G. Bruneau,Marc D. Grynpas,Marc D. Grynpas,Janet E. Henderson,R. Mark Henkelman,Colin McKerlie,Colin McKerlie,John G. Sled,William L. Stanford,William L. Stanford,Dale W. Laird,Gerald M. Kidder,S. Lee Adamson,S. Lee Adamson,Janet Rossant,Janet Rossant +41 more
TL;DR: In vivo and in vitro studies revealed that the mutant Cx43 protein acts in a dominant-negative fashion to disrupt gap junction assembly and function, and these mutant mice represent an experimental model with which to explore the clinical manifestations of ODDD and to evaluate potential intervention strategies.
Journal ArticleDOI
Prevalence of sexual dimorphism in mammalian phenotypic traits
Natasha A. Karp,Natasha A. Karp,Jeremy Mason,Arthur L. Beaudet,Yoav Benjamini,Lynette Bower,Robert E. Braun,Steve D.M. Brown,Elissa J. Chesler,Mary E. Dickinson,Ann M. Flenniken,Helmut Fuchs,Martin Hrabé de Angelis,Xiang Gao,Shiying Guo,Simon Greenaway,Ruth Heller,Yann Herault,Monica J. Justice,Natalja Kurbatova,Christopher J. Lelliott,Kevin C K Lloyd,Ann-Marie Mallon,Judith E. Mank,Hiroshi Masuya,Colin McKerlie,Terrence F. Meehan,Richard Mott,Stephen A. Murray,Helen Parkinson,Ramiro Ramirez-Solis,Luis Santos,John R. Seavitt,Damian Smedley,Tania Sorg,Anneliese O. Speak,Karen P. Steel,Karen P. Steel,Karen L. Svenson,Shigeharu Wakana,David B. West,Sara Wells,Henrik Westerberg,Shay Yaacoby,Jacqueline K. White +44 more
TL;DR: A large proportion of mammalian traits both in wildtype and mutants are influenced by sex, and this result has implications for interpreting disease phenotypes in animal models and humans.
Journal ArticleDOI
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
Terrence F. Meehan,Nathalie Conte,David B. West,Julius O.B. Jacobsen,Jeremy Mason,Jonathan Warren,Chao-Kung Chen,Ilinca Tudose,Mike Relac,Peter Matthews,Natasha A. Karp,Luis Santos,Tanja Fiegel,Natalie Ring,Henrik Westerberg,Simon Greenaway,Duncan Sneddon,Hugh P. Morgan,Gemma F. Codner,Michelle Stewart,James M. Brown,Neil R. Horner,Melissa A. Haendel,Nicole L. Washington,Christopher J. Mungall,Corey L. Reynolds,Juan Gallegos,Valerie Gailus-Durner,Tania Sorg,Guillaume Pavlovic,Lynette Bower,Mark W. Moore,Iva Morse,Xiang Gao,Glauco P. Tocchini-Valentini,Yuichi Obata,Soo Young Cho,Je Kyung Seong,John R. Seavitt,Arthur L. Beaudet,Mary E. Dickinson,Yann Herault,Wolfgang Wurst,Martin Hrabé de Angelis,Kevin C K Lloyd,Ann M. Flenniken,Lauryl M. J. Nutter,Susan Newbigging,Colin McKerlie,Monica J. Justice,Stephen A. Murray,Karen L. Svenson,Robert E. Braun,Jacqueline K. White,Allan Bradley,Paul Flicek,Sara Wells,William C. Skarnes,David J. Adams,Helen Parkinson,Ann-Marie Mallon,Stephen D.M. Brown,Damian Smedley +62 more
TL;DR: Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to the knowledge, for type C Bernard–Soulier, Bardet–Biedl-5 and Gordon Holmes syndromes, and 90% of phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases.
Journal ArticleDOI
Anatomical phenotyping in the brain and skull of a mutant mouse by magnetic resonance imaging and computed tomography
Brian J. Nieman,Ann M. Flenniken,S. Lee Adamson,S. Lee Adamson,R. Mark Henkelman,John G. Sled +5 more
TL;DR: This methodology is demonstrated for a partially characterized mouse mutation generated by N-ethyl-N-nitrosourea mutagenesis that is a putative model of the human syndrome oculodentodigital dysplasia, caused by point mutations in the gene encoding connexin 43.