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Norma J. Nowak
Researcher at University at Buffalo
Publications - 164
Citations - 12918
Norma J. Nowak is an academic researcher from University at Buffalo. The author has contributed to research in topics: Comparative genomic hybridization & Gene. The author has an hindex of 50, co-authored 161 publications receiving 12344 citations. Previous affiliations of Norma J. Nowak include Carnegie Mellon University & Roswell Park Cancer Institute.
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Journal ArticleDOI
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
Shiaoching Gong,Chen Zheng,Martin L. Doughty,Kasia Losos,Nicholas Didkovsky,Uta B. Schambra,Norma J. Nowak,Alexandra L. Joyner,Gabrielle Leblanc,Mary E. Hatten,Nathaniel Heintz +10 more
TL;DR: A large-scale screen is described to create an atlas of CNS gene expression at the cellular level, and to provide a library of verified bacterial artificial chromosome vectors and transgenic mouse lines that offer experimental access to CNS regions, cell classes and pathways.
Journal ArticleDOI
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Raymonda Varon,Christine S. Vissinga,Matthias Platzer,Karen M. Cerosaletti,Krystyna H. Chrzanowska,Kathrin Saar,Georg Beckmann,Eva Seemanova,Paul R. Cooper,Norma J. Nowak,Markus Stumm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis +18 more
TL;DR: The positional cloning of a gene encoding a novel protein, nibrin, which contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain and a truncating 5 bp deletion are described.
Journal ArticleDOI
Assembly of microarrays for genome-wide measurement of DNA copy number.
Antoine M. Snijders,Norma J. Nowak,Richard Segraves,Stephanie Blackwood,Nils Brown,Jeffrey M. Conroy,Greg Hamilton,Anna Katherine Hindle,Bing Huey,Karen Kimura,Sindy Law,Ken Myambo,Joel Palmer,Bauke Ylstra,Jingzhu Pearl Yue,Joe W. Gray,Ajay N. Jain,Daniel Pinkel,Donna G. Albertson +18 more
TL;DR: The arrays provide precise measurement in cell lines and clinical material, so that they can reliably detect and quantify high-level amplifications and single-copy alterations in diploid, polyploid and heterogeneous backgrounds.
Journal ArticleDOI
A physical map of the human genome.
John Douglas Mcpherson,Marco A. Marra,Marco A. Marra,LaDeana W. Hillier,Robert H. Waterston,Asif T. Chinwalla,John W. Wallis,Mandeep Sekhon,Kristine M. Wylie,Elaine R. Mardis,Richard K. Wilson,Robert S. Fulton,Tamara A. Kucaba,Caryn Wagner-McPherson,William B. Barbazuk,Simon G. Gregory,Sean Humphray,Lisa French,R Evans,Graeme Bethel,Adam Whittaker,Jane L. Holden,Owen T. McCann,Andrew Dunham,Carol Soderlund,Carol Scott,David R. Bentley,Gregory D. Schuler,Hsiu Chuan Chen,Wonhee Jang,Eric D. Green,Jacquelyn R. Idol,Valerie Maduro,Kate Montgomery,Eunice Lee,Ashley Miller,Suzanne Emerling,Raju Kucherlapati,Richard A. Gibbs,Steve Scherer,J. Harley Gorrell,Erica Sodergren,Kerstin P. Clerc-Blankenburg,Paul E. Tabor,S. Naylor,Dawn Garcia,J. de Jong,J. de Jong,J. de Jong,Joseph J. Catanese,Joseph J. Catanese,Joseph J. Catanese,Norma J. Nowak,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Shizhen Qin,Lee Rowen,Anuradha Madan,Monica Dors,Leroy Hood,Barbara J. Trask,Cynthia Friedman,Hillary Massa,Vivian G. Cheung,Ilan R. Kirsch,Thomas Reid,Raluca Yonescu,Jean Weissenbach,Thomas Brüls,Roland Heilig,Elbert Branscomb,Anne S. Olsen,Norman A. Doggett,Jan Fang Cheng,Trevor Hawkins,Richard M. Myers,Jin Shang,Lucía Ramírez,Jeremy Schmutz,Olivia Velasquez,Kami Dixon,Nancy E. Stone,David R. Cox,David Haussler,W. James Kent,Terrence S. Furey,Sanja Rogic,Scot Kennedy,Steven J.M. Jones,André Rosenthal,Gaiping Wen,Markus Schilhabel,Gernot Gloeckner,Gerald Nyakatura,Reiner Siebert,Brigitte Schlegelberger,Julie R. Korenberg,Xiao Ning Chen,Asao Fujiyama,Masahira Hattori,Atsushi Toyoda,Tetsushi Yada,Hong Seok Park,Yoshiyuki Sakaki,Nobuyoshi Shimizu,Shuichi Asakawa,Kazuhiko Kawasaki,Takashi Sasaki,Ai Shintani,Atsushi Shimizu,Kazunori Shibuya,Jun Kudoh,Shinsei Minoshima,Juliane Ramser,Peter Seranski,Céline Hoff,Annemarie Poustka,Richard Reinhardt,Hans Lehrach +119 more
TL;DR: The construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions are reported.
Journal ArticleDOI
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar,Samer KaraMohamed,Jyotsna Sudi,Donald F. Conrad,Camille W. Brune,Judith A. Badner,T. Conrad Gilliam,Norma J. Nowak,Edwin H. Cook,William B. Dobyns,Susan L. Christian +10 more
TL;DR: This work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date.