Shlien, Adam : rechercher sur Z-Library

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1

Toward a more uniform sampling of human genetic diversity: A survey of worldwide populations by high-density genotyping

Jinchuan Xing, W. Scott Watkins, Adam Shlien, Erin Walker, Chad D. Huff, David J. Witherspoon, Yuhua Zhang, Tatum S. Simonson, Robert B. Weiss, Joshua D. Schiffman, David Malkin, Scott R. Woodward, Ly

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2010

2

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

Anita Villani, Uri Tabori, Joshua Schiffman, Adam Shlien, Joseph Beyene, Harriet Druker, Ana Novokmet, Jonathan Finlay, David Malkin

Journal:

The Lancet Oncology

Année:

2011

Langue:

english

Fichier:

PDF, 137 KB

english, 2011

3

The Life History of 21 Breast Cancers

Nik-Zainal, Serena, Van Loo, Peter, Wedge, David C., Alexandrov, Ludmil B., Greenman, Christopher D., Lau, King Wai, Raine, Keiran, Jones, David, Marshall, John, Ramakrishna, Manasa, Shlien, Adam, Coo

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 62 KB

english, 2015

4

The Life History of 21 Breast Cancers

Serena Nik-Zainal, Peter Van Loo, David C. Wedge, Ludmil B. Alexandrov, Christopher D. Greenman, King Wai Lau, Keiran Raine, David Jones, John Marshall, Manasa Ramakrishna, Adam Shlien, Susanna L. Coo

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2012

5

Choroid plexus tumors; management, outcome, and association with the Li–Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991–2010

Alexa E. Gozali, Barbara Britt, Lisa Shane, Ignacio Gonzalez, Floyd Gilles, J. Gordon McComb, Mark D. Krieger, Robert S. Lavey, Adam Shlien, Judith G. Villablanca, Anat Erdreich-Epstein, Girish Dhall,

Journal:

Pediatric Blood & Cancer

Année:

2012

Langue:

english

Fichier:

PDF, 91 KB

english, 2012

6

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

Adam Shlien, Berivan Baskin, Maria Isabel W. Achatz, Dimitrios J. Stavropoulos, Kim E. Nichols, Louanne Hudgins, Chantal F. Morel, Margaret P. Adam, Nataliya Zhukova, Lianne Rotin, Ana Novokmet, Harri

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 860 KB

english, 2010

7

Copy number variations and cancer

Adam Shlien, David Malkin

Journal:

Genome Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 602 KB

english, 2009

8

Processed pseudogenes acquired somatically during cancer development

Cooke, Susanna L., Shlien, Adam, Marshall, John, Pipinikas, Christodoulos P., Martincorena, Inigo, Tubio, Jose M.C., Li, Yilong, Menzies, Andrew, Mudie, Laura, Ramakrishna, Manasa, Yates, Lucy, Davies

Journal:

Nature Communications

Année:

2014

Langue:

english

Fichier:

PDF, 455 KB

english, 2014

9

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Shlien, Adam, Campbell, Brittany B, de Borja, Richard, Alexandrov, Ludmil B, Merico, Daniele, Wedge, David, Van Loo, Peter, Tarpey, Patrick S, Coupland, Paul, Behjati, Sam, Pollett, Aaron, Lipman, Tat

Journal:

Nature Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2015

10

OncoCis: annotation ofcis-regulatory mutations in cancer

Perera, Dilmi, Chacon, Diego, Thoms, Julie AI, Poulos, Rebecca C, Shlien, Adam, Beck, Dominik, Campbell, Peter J, Pimanda, John E, Wong, Jason WH

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 3.08 MB

english, 2014

11

IGF2 is Highly Expressed in Pediatric Undifferentiated Sarcomas and Reveals Two Distinct Cytoplasmic Trafficking Patterns

Somers, Gino R., Ho, Michael, Pienkowska, Malgorzata, Shlien, Adam, Malkin, David, Ackerley, Cameron, Zielenska, Maria

Journal:

Pediatric and Developmental Pathology

Année:

2010

Langue:

english

Fichier:

PDF, 2.90 MB

english, 2010

12

New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort

Nam, Robert K., Zhang, William, Siminovitch, Katherine, Shlien, Adam, Kattan, Michael W., Klotz, Laurence H., Trachtenberg, John, Lu, Yan, Zhang, Jinyi, Yu, Changhong, Toi, Ants, Loblaw, D. Andrew, Ve

Journal:

Cancer Biology & Therapy

Année:

2011

Langue:

english

Fichier:

PDF, 309 KB

english, 2011

13

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome

Fumagalli, Debora, Gacquer, David, Rothé, Françoise, Lefort, Anne, Libert, Frederick, Brown, David, Kheddoumi, Naima, Shlien, Adam, Konopka, Tomasz, Salgado, Roberto, Larsimont, Denis, Polyak, Korneli

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.36 MB

english, 2015

14

Sa2045 Tumor Spectrum, Diagnostic Tools and Survival in Patients With Biallelic Mismatch Repair Gene Deficiency (BMMRD) Syndrome: Report From the International BMMRD Consortium

Durno, Carol, Aronson, Melyssa, Campbell, Brittany, Zhukova, Nataliya, Shlien, Adam, Reddy, Alyssa T., Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Mason, Gary, Hansford, Jordan, Peterson, Lindsay,

Journal:

Gastroenterology

Année:

2016

Langue:

english

Fichier:

PDF, 405 KB

english, 2016

15

Copy number variations and cancer susceptibility

Shlien, Adam, Malkin, David

Journal:

Current Opinion in Oncology

Année:

2010

Langue:

english

Fichier:

PDF, 517 KB

english, 2010

16

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Shlien, Adam, Raine, Keiran, Fuligni, Fabio, Arnold, Roland, Nik-Zainal, Serena, Dronov, Serge, Mamanova, Lira, Rosic, Andrej, Ju, Young Seok, Cooke, Susanna L., Ramakrishna, Manasa, Papaemmanuil, Ell

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.86 MB

english, 2016

17

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

Chalmers, Zachary R., Connelly, Caitlin F., Fabrizio, David, Gay, Laurie, Ali, Siraj M., Ennis, Riley, Schrock, Alexa, Campbell, Brittany, Shlien, Adam, Chmielecki, Juliann, Huang, Franklin, He, Yutin

Journal:

Genome Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2017

18

DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma

Wasserman, Jonathan D, Sabbaghian, Nelly, Fahiminiya, Somayyeh, Chami, Rose, Mete, Ozgur, Acker, Meryl, Wu, Mona K, Shlien, Adam, de Kock, Leanne, Foulkes, William D

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 74.52 MB

english, 2018

19

MG-129 Our experience of in silico gene panel testing for clinically heterogeneous disorders using exome sequencing

Basran, Raveen K, Marshall, Christian R, Shlien, Adam, Eliou, Marianne, Orr, Jennifer, Lau, Lynette, Stavropoulos, Dimitri J, Ray, Peter N

Journal:

Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 56 KB

english, 2015

20

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

Prykhozhij, Sergey V, Fuller, Charlotte, Steele, Shelby L, Veinotte, Chansey J, Razaghi, Babak, Robitaille, Johane M, McMaster, Christopher R, Shlien, Adam, Malkin, David, Berman, Jason N

Journal:

Nucleic Acids Research

Année:

2018

Langue:

english

Fichier:

PDF, 7.42 MB

english, 2018

21

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

Ju, Young Seok, Alexandrov, Ludmil B, Gerstung, Moritz, Martincorena, Inigo, Nik-Zainal, Serena, Ramakrishna, Manasa, Davies, Helen R, Papaemmanuil, Elli, Gundem, Gunes, Shlien, Adam, Bolli, Niccolo,

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2014

22

Response to Immune Checkpoint Inhibition in Two Patients with Alveolar Soft Part Sarcoma

Lewin, Jeremy, Davidson, Scott, Anderson, Nathaniel D, Lau, Beatrice Y., Kelly, Jacalyn, Tabori, Uri, Salah, Samer, Butler, Marcus O, Aung, Kyaw L, Shlien, Adam, Dickson, Brendan C, Abdul Razak, Albir

Journal:

Cancer Immunology Research

Année:

2018

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2018

23

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

Prykhozhij, Sergey V, Fuller, Charlotte, Steele, Shelby L, Veinotte, Chansey J, Razaghi, Babak, Robitaille, Johane M, McMaster, Christopher R, Shlien, Adam, Malkin, David, Berman, Jason N

Journal:

Nucleic Acids Research

Année:

2018

Langue:

english

Fichier:

PDF, 38 KB

english, 2018

24

EAPH-06. HYPERMUTANT PEDIATRIC HIGH GRADE GLIOMAS ARE DRIVEN BY RAS/MAPK MUTATIONS AND RESPOND TO MEK INHIBITION

Campbell, Brittany B, Morgenstern, Daniel A, Lipman, Tatiana, Fabrizio, David, Shlien, Adam, Bouffet, Eric, Hawkins, Cynthia, Tabori, Uri

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 87 KB

english, 2018

25

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report

Xu, Qi, Uliel-Sibony, Shimrit, Dunham, Christopher, Sarnat, Harvey, Flores-Sarnat, Laura, Brunga, Ledia, Davidson, Scott, Lo, Winnie, Shlien, Adam, Connolly, Mary, Boelman, Cyrus, Datta, Anita

Journal:

Journal of Child Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2018

26

DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

Pienkowska, Malgorzata, Choufani, Sanaa, Turinsky, Andrei L., Guha, Tanya, Merino, Diana M., Novokmet, Ana, Brudno, Michael, Weksberg, Rosanna, Shlien, Adam, Hawkins, Cynthia, Bouffet, Eric, Tabori, U

Journal:

Clinical Epigenetics

Année:

2019

Langue:

english

Fichier:

PDF, 3.70 MB

english, 2019

27

TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15âMKL1 fusionâpositive pediatric acute megakaryoblastic leukemia

LangenbergâVervergaert, Karin, Renzi, Samuele, Fuligni, Fabio, Davidson, Scott, Abdelhaleem, Mohamed, Lo, Winnie, Malkin, David, Shlien, Adam, Shago, Mary, Villani, Anita, Abla, Oussama

Journal:

Pediatric Blood & Cancer

Année:

2020

Fichier:

PDF, 303 KB

2020

28

First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia

Tandon, Sneha, Shago, Mary, Davidson, Scott, Kanwar, Nisha, Fuligni, Fabio, Shlien, Adam, Whitlock, James, Villani, Anita, Abla, Oussama

Journal:

Cancer Genetics

Année:

2020

Fichier:

PDF, 488 KB

2020