K
Kristina A. Cole
Researcher at Children's Hospital of Philadelphia
Publications - 82
Citations - 7811
Kristina A. Cole is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Neuroblastoma & Medicine. The author has an hindex of 31, co-authored 66 publications receiving 6699 citations. Previous affiliations of Kristina A. Cole include University of Pennsylvania.
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Journal ArticleDOI
Identification of ALK as a major familial neuroblastoma predisposition gene
Yael P. Mosse,Marci Laudenslager,Luca Longo,Kristina A. Cole,Andrew C. Wood,Edward F. Attiyeh,Michael J. Laquaglia,Rachel Sennett,Jill E. Lynch,Patrizia Perri,Genevieve Laureys,Frank Speleman,Cecilia Kim,Cuiping Hou,Cuiping Hou,Hakon Hakonarson,Hakon Hakonarson,Ali Torkamani,Nicholas J. Schork,Garrett M. Brodeur,Gian Paolo Tonini,Eric F. Rappaport,Marcella Devoto,Marcella Devoto,John M. Maris +24 more
TL;DR: It is demonstrated that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy.
Journal ArticleDOI
The genetic landscape of high-risk neuroblastoma
Trevor J. Pugh,Olena Morozova,Edward F. Attiyeh,Edward F. Attiyeh,Shahab Asgharzadeh,Shahab Asgharzadeh,Jun S. Wei,Daniel Auclair,Scott L. Carter,Kristian Cibulskis,Megan Hanna,Megan Hanna,Adam Kiezun,Jaegil Kim,Michael S. Lawrence,Lee Lichenstein,Aaron McKenna,Chandra Sekhar Pedamallu,Chandra Sekhar Pedamallu,Alex H. Ramos,Alex H. Ramos,Erica Shefler,Andrey Sivachenko,Carrie Sougnez,Chip Stewart,Adrian Ally,Inanc Birol,Readman Chiu,Richard Corbett,Martin Hirst,Shaun D. Jackman,Baljit Kamoh,Alireza Hadj Khodabakshi,Martin Krzywinski,Allan Lo,Richard A. Moore,Karen Mungall,Jenny Q. Qian,Angela Tam,Nina Thiessen,Yongjun Zhao,Kristina A. Cole,Kristina A. Cole,Maura Diamond,Maura Diamond,Sharon J. Diskin,Sharon J. Diskin,Yael P. Mosse,Yael P. Mosse,Andrew Wood,Andrew Wood,Lingyun Ji,Lingyun Ji,Richard Sposto,Richard Sposto,Thomas C. Badgett,Wendy B. London,Yvonne Moyer,Yvonne Moyer,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Malcolm A. Smith,Jaime M. Guidry Auvil,Daniela S. Gerhard,Michael D. Hogarty,Michael D. Hogarty,Steven J.M. Jones,Eric S. Lander,Stacey Gabriel,Gad Getz,Robert C. Seeger,Robert C. Seeger,Javed Khan,Marco A. Marra,Matthew Meyerson,Matthew Meyerson,John M. Maris +76 more
TL;DR: The authors reported a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent) and notably few recurrently mutated genes in high-risk neuroblastoma.
Journal ArticleDOI
Comprehensive Analysis of Hypermutation in Human Cancer
Brittany Campbell,Nicholas Light,David Fabrizio,Matthew Zatzman,Fabio Fuligni,Richard de Borja,Scott Davidson,Melissa Edwards,Julia A. Elvin,Karl P. Hodel,Walter J. Zahurancik,Zucai Suo,Tatiana Lipman,Katharina Wimmer,Christian P. Kratz,Daniel C. Bowers,Theodore W. Laetsch,Gavin P. Dunn,Tanner M. Johanns,Matthew R. Grimmer,Ivan Smirnov,Valerie Larouche,David Samuel,Annika Bronsema,Michael Osborn,Duncan Stearns,Pichai Raman,Kristina A. Cole,Phillip B. Storm,Michal Yalon,Enrico Opocher,Gary Mason,Gregory Thomas,Magnus Sabel,Ben George,David S. Ziegler,David S. Ziegler,Scott Lindhorst,Vanan Magimairajan Issai,Shlomi Constantini,Helen Toledano,Ronit Elhasid,Roula Farah,Rina Dvir,Peter B. Dirks,Annie Huang,Melissa Galati,Jiil Chung,Vijay Ramaswamy,Meredith S. Irwin,Melyssa Aronson,Carol Durno,Michael D. Taylor,Gideon Rechavi,John M. Maris,Eric Bouffet,Cynthia Hawkins,Joseph F. Costello,M. Stephen Meyn,M. Stephen Meyn,Zachary F. Pursell,David Malkin,Uri Tabori,Adam Shlien +63 more
TL;DR: An extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations, uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load.
Journal ArticleDOI
Copy number variation at 1q21.1 associated with neuroblastoma
Sharon J. Diskin,Cuiping Hou,Joseph T. Glessner,Edward F. Attiyeh,Edward F. Attiyeh,Marci Laudenslager,Kristopher R. Bosse,Kristina A. Cole,Yael P. Mosse,Yael P. Mosse,Andrew Wood,Jill E. Lynch,Katlyn Pecor,Maura Diamond,Cynthia Winter,Kai Wang,Cecilia Kim,Elizabeth A. Geiger,Patrick McGrady,Alexandra I. F. Blakemore,Wendy B. London,Tamim H. Shaikh,Tamim H. Shaikh,Jonathan P. Bradfield,Struan F.A. Grant,Struan F.A. Grant,Hongzhe Li,Marcella Devoto,E. Rappaport,E. Rappaport,Hakon Hakonarson,Hakon Hakonarson,John M. Maris,John M. Maris +33 more
TL;DR: The identification of a common CNV at chromosome 1q21.1 associated with neuroblastoma in the discovery set is described and a previously unknown transcript within the CNV that showed high sequence similarity to several neuro Blastoma breakpoint family genes and represents a new member of this gene family (NBPF23).
Journal ArticleDOI
Dual CDK4/CDK6 inhibition induces cell-cycle arrest and senescence in neuroblastoma
JulieAnn Rader,Mike R. Russell,Lori S. Hart,Michael S. Nakazawa,Lili T. Belcastro,Daniel Martinez,Yimei Li,Erica L. Carpenter,Edward F. Attiyeh,Sharon J. Diskin,Sunkyu Kim,Sudha Parasuraman,Giordano Caponigro,Robert W. Schnepp,Andrew C. Wood,Bruce R. Pawel,Kristina A. Cole,John M. Maris +17 more
TL;DR: The data show that LEE011 is active in a large subset of neuroblastoma cell line and xenograft models, and supports the clinical development of this CDK4/6 inhibitor as a therapy for patients with this disease.