Cláudia C. Faria

ORCID: 0000-0003-1259-9922
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Research Areas
  • Glioma Diagnosis and Treatment
  • Chromatin Remodeling and Cancer
  • Hedgehog Signaling Pathway Studies
  • Cancer Genomics and Diagnostics
  • Microtubule and mitosis dynamics
  • Neuroblastoma Research and Treatments
  • Brain Metastases and Treatment
  • Cancer, Hypoxia, and Metabolism
  • Epigenetics and DNA Methylation
  • Pituitary Gland Disorders and Treatments
  • Cancer Cells and Metastasis
  • Cerebrospinal fluid and hydrocephalus
  • RNA Research and Splicing
  • Wnt/β-catenin signaling in development and cancer
  • Spinal Dysraphism and Malformations
  • Growth Hormone and Insulin-like Growth Factors
  • Cancer Mechanisms and Therapy
  • Adrenal and Paraganglionic Tumors
  • Craniofacial Disorders and Treatments
  • Ferroptosis and cancer prognosis
  • Genomics and Rare Diseases
  • Cancer-related molecular mechanisms research
  • Cleft Lip and Palate Research
  • Protein Degradation and Inhibitors
  • Genomics and Chromatin Dynamics

Hospital de Santa Maria
2016-2025

University of Lisbon
2014-2024

European Bioinformatics Institute
2024

Genomics England
2024

Boston Children's Hospital
2024

University College London
2024

Royal National Orthopaedic Hospital
2024

Ezequiel Dias Foundation
2024

Centro Hospitalar Lisboa Norte
2014-2023

Hospital de Egas Moniz
2022-2023

Florence M.G. Cavalli Marc Remke Ladislav Rampášek John Peacock David Shih and 90 more Betty Luu Livia Garzia Jonathon Torchia Carolina Nör A. Sorana Morrissy Sameer Agnihotri Yuan Thompson Claudia M. Kuzan-Fischer Hamza Farooq Keren Isaev Craig Daniels Byung-Kyu Cho Seung-Ki Kim Kyu‐Chang Wang Ji Yeoun Lee Wiesława Grajkowska Marta Perek‐Polnik Alexandre Vasiljevic Cécile Faure‐Conter Anne Jouvet Caterina Giannini Amulya A. Nageswara Rao Kay Ka Wai Li Ho‐Keung Ng Charles G. Eberhart Ian F. Pollack Ronald L. Hamilton G. Yancey Gillespie James M. Olson Sarah Leary William A. Weiss Bolesław Lach Lola B. Chambless Reid C. Thompson Michael K. Cooper Rajeev Vibhakar Péter Hauser Marie‐Lise C. van Veelen Johan M. Kros Pim J. French Young Seob Shin Toshihiro Kumabe Enrique López‐Aguilar Karel Zitterbart Jaroslav Štěrba Gaetano Finocchiaro Maura Massimino Erwin G. Van Meir Satoru Osuka Tomoko Shofuda Álmos Klekner Massimo Zollo Jeffrey R. Leonard Joshua B. Rubin Nada Jabado Steffen Albrecht Jaume Mora Timothy Van Meter Shin Jung Andrew S. Moore Andrew R. Hallahan Jennifer A. Chan Daniela Pretti da Cunha Tirapelli Carlos Gilberto Carlotti Maryam Fouladi José Pimentel Cláudia C. Faria Ali G. Saad Luca Massimi Linda M. Liau Helen Wheeler Hideo Nakamura Samer K. Elbabaa Mario Pérezpeña-Díazconti Fernando Chico Ponce de León Shenandoah Robinson Michal Zápotocký Álvaro Lassaletta Annie Huang Cynthia Hawkins Uri Tabori Éric Bouffet Ute Bartels Peter B. Dirks James T. Rutka Gary D. Bader Jüri Reimand Anna Goldenberg Vijay Ramaswamy Michael D. Taylor

10.1016/j.ccell.2017.05.005 article EN publisher-specific-oa Cancer Cell 2017-06-01

10.1038/nature13108 article EN Nature 2014-02-01
Eric M. Thompson Thomas Hielscher Éric Bouffet Marc Remke Betty Luu and 95 more Sridharan Gururangan Roger E. McLendon Darell D. Bigner Eric Lipp Sébastien Perreault Yoon-Jae Cho Gerald A. Grant Seung-Ki Kim Ji Yeoun Lee Amulya A. Nageswara Rao Caterina Giannini Kay Ka Wai Li Ho‐Keung Ng Yu Yao Toshihiro Kumabe Teiji Tominaga Wiesława Grajkowska Marta Perek‐Polnik David C.Y. Low Wan Tew Seow Kenneth Tou En Chang Jaume Mora Ian F. Pollack Ronald L. Hamilton Sarah Leary Andrew S. Moore Wendy J. Ingram Andrew R. Hallahan Anne Jouvet Michelle Fèvre‐Montange Alexandre Vasiljevic Cécile Faure‐Conter Tomoko Shofuda Naoki Kagawa Naoya Hashimoto Nada Jabado Alexander G. Weil Tenzin Gayden Takafumi Wataya Tarek Shalaby Michael Grotzer Karel Zitterbart Jaroslav Štěrba Leoš Křen Tibor Hortobágyi Álmos Klekner László Bognár Tímea Pócza Péter Hauser Ulrich Schüller Shin Jung Woo-Youl Jang Pim J. French Johan M. Kros Marie‐Lise C. van Veelen Luca Massimi Jeffrey R. Leonard Joshua B. Rubin Rajeev Vibhakar Lola B. Chambless Michael K. Cooper Reid C. Thompson Cláudia C. Faria Alice Carvalho Sofia Nunes José Pimentel Xing Fan Karin M. Muraszko Enrique López‐Aguilar David Lyden Livia Garzia David Shih Noriyuki Kijima Christian Schneider Jennifer Adamski Paul A. Northcott Marcel Kool David Jones Jennifer A. Chan Ana Nikolić Maria Luisa Garrè Erwin G. Van Meir Satoru Osuka Jeffrey J. Olson Arman Jahangiri Brandyn Castro Nalin Gupta William A. Weiss Iska Moxon‐Emre Donald Mabbott Álvaro Lassaletta Cynthia Hawkins Uri Tabori James M. Drake Abhaya V. Kulkarni

10.1016/s1470-2045(15)00581-1 article EN The Lancet Oncology 2016-03-12
A. Sorana Morrissy Livia Garzia David Shih Scott Zuyderduyn Xi Huang and 95 more Patryk Skowron Marc Remke Florence M.G. Cavalli Vijay Ramaswamy Patricia Lindsay Salomeh Jelveh Laura Donovan Xin Wang Betty Luu Kory Zayne Yisu Li Chelsea Mayoh Nina Thiessen Eloi Mercier Karen Mungall Yusanne Ma Kane Tse Thomas Zeng Karey Shumansky Andrew Roth Sohrab P. Shah Hamza Farooq Noriyuki Kijima Borja Holgado John J. Y. Lee Stuart Matan-Lithwick Jessica Liu Stephen C. Mack Alex Manno Kulandaimanuvel Antony Michealraj Carolina Nör John Peacock Lei Qin Jüri Reimand Adi Rolider Yuan Thompson Xiaochong Wu Trevor J. Pugh Adrian Ally Mikhail Bilenky Yaron S.N. Butterfield Rebecca Carlsen Young Cheng Eric Chuah Richard Corbett Noreen Dhalla Anyuan He Darlene Lee Haiyan I. Li William D. Long Michael Mayo Patrick Plettner Jenny Q. Qian Jacqueline E. Schein Angela Tam Tina Wong İnanç Birol Yongjun Zhao Cláudia C. Faria José Pimentel Sofía Nunes Tarek Shalaby Michael Grotzer Ian F. Pollack Ronald L. Hamilton Xiao‐Nan Li Anne Bendel Daniel W. Fults Andrew W. Walter Toshihiro Kumabe Teiji Tominaga V. Peter Collins Yoon-Jae Cho Caitlin Hoffman David Lyden Jeffrey H. Wisoff James H. Garvin Duncan Stearns Luca Massimi Ulrich Schüller Jaroslav Štěrba Karel Zitterbart Stéphanie Puget Olivier Ayrault Sandra E. Dunn Daniela Pretti da Cunha Tirapelli Carlos Gilberto Carlotti Helen Wheeler Andrew R. Hallahan Wendy J. Ingram Tobey J. MacDonald Jeffrey J. Olson Erwin G. Van Meir Ji-Yeoun Lee Kyu‐Chang Wang

10.1038/nature16478 article EN Nature 2016-01-01

Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, histologic variant. Stark prognostic genetic differences among the subgroups suggest that subgroup-specific biomarkers could improve prognostication.Molecular were identified from a discovery set 673 medulloblastomas 43 cities around world. Combined risk stratification models...

10.1200/jco.2013.50.9539 article EN Journal of Clinical Oncology 2014-02-04

Infant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors a higher mortality rate, while high-grade better outcome. However, we little understanding of their biology therefore cannot explain this nor what constitutes optimal management. Here report comprehensive genetic analysis an international cohort clinically annotated infant gliomas, revealing 3 subgroups. Group 1 arise the cerebral hemispheres harbor alterations receptor tyrosine...

10.1038/s41467-019-12187-5 article EN cc-by Nature Communications 2019-09-25
Jonathon Torchia Brian Golbourn Shengrui Feng King Ching Ho Patrick Sin‐Chan and 95 more Alexandre Vasiljevic Joseph Norman Paul Guilhamon Livia Garzia Natalia R. Agamez Mei Lu Tiffany Sin Yu Chan Daniel Picard Pasqualino de Antonellis Dong-Anh Khuong-Quang Aline Cristiane Planello Constanze Zeller Dalia Baršytė-Lovejoy Lucie Lafay‐Cousin Louis Létourneau Mathieu Bourgey Man Yu Deena M.A. Gendoo Misko Dzamba Mark Barszczyk Tiago da Silva Medina Alexandra N. Riemenschneider A. Sorana Morrissy Young‐Shin Ra Vijay Ramaswamy Marc Remke Christopher Dunham Stephen Yip Ho‐Keung Ng Jian‐Qiang Lu Vivek Mehta Steffen Albrecht José Pimentel Jennifer A. Chan Gino R. Somers Cláudia C. Faria Lúcia Roque Maryam Fouladi Lindsey M. Hoffman Andrew S. Moore Yin Wang Seung Ah Choi Jordan R. Hansford Daniel Catchpoole Diane K. Birks Nicholas K. Foreman Doug Strother Álmos Klekner László Bognár Miklós Garami Péter Hauser Tibor Hortobágyi Beverly Wilson Juliette Hukin Anne-Sophie Carret Timothy Van Meter Eugene Hwang Amar Gajjar Shih‐Hwa Chiou Hideo Nakamura Helen Toledano Iris Fried Daniel W. Fults Takafumi Wataya Chris Fryer David D. Eisenstat Katrin Scheinemann Adam Fleming Donna L. Johnston Jean Michaud Shayna Zelcer Robert Hammond Samina Afzal David A. Ramsay Nongnuch Sirachainan Suradej Hongeng Noppadol Larbcharoensub Richard G. Grundy Rishi Lulla Jason Fangusaro Harriet Druker Ute Bartels Ronald Grant David Malkin C. Jane McGlade Theodore Nicolaides Tarık Tihan Joanna J. Phillips Jacek Majewski Alexandre Montpetit Guillaume Bourque Gary D. Bader Alyssa Reddy G. Yancey Gillespie Monika Warmuth‐Metz

10.1016/j.ccell.2016.11.003 article EN publisher-specific-oa Cancer Cell 2016-12-01
Vijay Ramaswamy Thomas Hielscher Stephen C. Mack Álvaro Lassaletta Tong Lin and 95 more Kristian W. Pajtler David Jones Betty Luu Florence M.G. Cavalli Kenneth Aldape Marc Remke Martin Mynarek Stefan Rutkowski Sridharan Gururangan Roger E. McLendon Eric Lipp Christopher Dunham Juliette Hukin David D. Eisenstat Dorcas Fulton Frank van Landeghem Mariarita Santi Marie‐Lise C. van Veelen Erwin G. Van Meir Satoru Osuka Xing Fan Karin M. Muraszko Daniela Pretti da Cunha Tirapelli Sueli Mieko Oba‐Shinjo Suely Kazue Nagahashi Marie Carlos Gilberto Carlotti Ji Yeoun Lee Amulya A. Nageswara Rao Caterina Giannini Cláudia C. Faria Sofia Nunes Jaume Mora Ronald L. Hamilton Péter Hauser Nada Jabado Kevin Petrecca Shin Jung Luca Massimi Massimo Zollo Giuseppe Cinalli László Bognár Álmos Klekner Tibor Hortobágyi Sarah Leary Ralph Ermoian James M. Olson Jeffrey R. Leonard Corrine Gardner Wiesława Grajkowska Lola B. Chambless Jason Cain Charles G. Eberhart Sama Ahsan Maura Massimino Felice Giangaspero Francesca Romana Buttarelli Roger J. Packer Lyndsey Emery William H. Yong Horacio Soto Linda M. Liau Richard G. Everson Andrew J. Grossbach Tarek Shalaby Michael Grotzer Matthias A. Karajannis David Zagzag Helen Wheeler Katja von Hoff Marta M. Alonso T. Tuñón Ulrich Schüller Karel Zitterbart Jaroslav Štěrba Jennifer A. Chan Miguel A. Guzmán Samer K. Elbabaa Howard Colman Girish Dhall Paul G. Fisher Maryam Fouladi Amar Gajjar Stewart Goldman Eugene Hwang Marcel Kool Harshad Ladha Elizabeth Vera‐Bolanos Khalida Wani Frank S. Lieberman Tom Mikkelsen Antonio Omuro Ian F. Pollack Michael D. Prados H. Ian Robins Riccardo Soffietti

Posterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a biology natural history. The therapeutic value of cytoreductive surgery radiation therapy for posterior after accounting subgroup is not known.Four independent nonoverlapping retrospective cohorts ependymomas (n = 820) were profiled using genome-wide methylation arrays. Risk stratification models designed based on known clinical newly described biomarkers identified by multivariable...

10.1200/jco.2015.65.7825 article EN Journal of Clinical Oncology 2016-06-07
Liam D. Hendrikse Parthiv Haldipur Olivier Saulnier Jake Millman Alexandria H. Sjoboen and 95 more Anders W. Erickson Winnie Ong Victor Gordon Ludivine Coudière-Morrison Audrey Mercier Mohammad Shokouhian Raúl A. Suárez Michelle Ly Stephanie Borlase David S. Scott Maria C. Vladoiu Hamza Farooq Olga Sirbu Takuma Nakashima Shohei Nambu Yusuke Funakoshi Alec Bahcheli J. Javier Díaz-Mejía Joseph Golser Kathleen Bach Tram Phuong-Bao Patryk Skowron Evan Y. Wang Sachin Kumar Polina Balin Abhirami Visvanathan John J. Y. Lee Ramy Ayoub Xin Chen Xiaodi Chen Karen Mungall Betty Luu Pierre Bérubé Yu C. Wang Stefan M. Pfister Seung-Ki Kim Olivier Delattre Franck Bourdeaut François Doz Julien Masliah‐Planchon Wiesława Grajkowska James Loukides Peter B. Dirks Michelle Fèvre‐Montange Anne Jouvet Pim J. French Johan M. Kros Karel Zitterbart Swneke D. Bailey Charles G. Eberhart Amulya A. Nageswara Rao Caterina Giannini James M. Olson Miklós Garami Péter Hauser Joanna J. Phillips Stephanie Young Carmen de Torres Jaume Mora Kay K. W. Li Ho‐Keung Ng Wai Sang Poon Ian F. Pollack Enrique López‐Aguilar G. Yancey Gillespie Timothy Van Meter Tomoko Shofuda Rajeev Vibhakar Reid C. Thompson Michael K. Cooper Joshua B. Rubin Toshihiro Kumabe Shin Jung Bolesław Lach Achille Iolascon Veronica Ferrucci Pasqualino de Antonellis Massimo Zollo Giuseppe Cinalli Shenandoah Robinson Duncan Stearns Erwin G. Van Meir Paola Porrati Gaetano Finocchiaro Maura Massimino Carlos Gilberto Carlotti Cláudia C. Faria Martine F. Roussel Frederick A. Boop Jennifer A. Chan Kimberly A. Aldinger Ferechté Razavi Evelina Silvestri Roger E. McLendon Eric M. Thompson

10.1038/s41586-022-05215-w article EN Nature 2022-09-21

Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT medulloblastoma have not been described. Hence, we sought describe these their impact a subgroup-specific manner. We analyzed by direct sequencing genotyping 466 medulloblastomas. The mutational distributions determined according subgroup affiliation, demographics, clinical,...

10.1007/s00401-013-1198-2 article EN cc-by Acta Neuropathologica 2013-10-30
Patryk Skowron Hamza Farooq Florence M.G. Cavalli A. Sorana Morrissy Michelle Ly and 94 more Liam D. Hendrikse Evan Y. Wang Haig Djambazian Helen Zhu Karen Mungall Quang M. Trinh Tina Zheng Shizhong Dai Ana Guerreiro Stücklin Maria C. Vladoiu Vernon Fong Borja Holgado Carolina Nör Xiaochong Wu Diala Abd-Rabbo Pierre Bérubé Yu Chang Wang Betty Luu Raúl A. Suárez Avesta Rastan Aaron H. Gillmor John J. Y. Lee Xiaoyun Zhang Craig Daniels Peter B. Dirks David Malkin Éric Bouffet Uri Tabori James Loukides François Doz Franck Bourdeaut Olivier Delattre Julien Masliah‐Planchon Olivier Ayrault Seung-Ki Kim David Meyronet Wiesława Grajkowska Carlos Gilberto Carlotti Carmen de Torres Jaume Mora Charles G. Eberhart Erwin G. Van Meir Toshihiro Kumabe Pim J. French Johan M. Kros Nada Jabado Bolesław Lach Ian F. Pollack Ronald L. Hamilton Amulya A. Nageswara Rao Caterina Giannini James M. Olson László Bognár Álmos Klekner Karel Zitterbart Joanna J. Phillips Reid C. Thompson Michael K. Cooper Joshua B. Rubin Linda M. Liau Miklós Garami Péter Hauser Kay Ka Wai Li Ho‐Keung Ng Wai Sang Poon G. Yancey Gillespie Jennifer A. Chan Shin Jung Roger E. McLendon Eric M. Thompson David Zagzag Rajeev Vibhakar Young Seob Shin Maria Luisa Garrè Ulrich Schüller Tomoko Shofuda Cláudia C. Faria Enrique López‐Aguilar Gelareh Zadeh Chi‐chung Hui Vijay Ramaswamy Swneke D. Bailey Steven J.M. Jones Andrew J. Mungall Richard A. Moore John A. Calarco Lincoln Stein Gary D. Bader Jüri Reimand Jiannis Ragoussis William A. Weiss Marco A. Marra Hiromichi Suzuki Michael D. Taylor

Abstract Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers the developing central nervous system. Here, we use unbiased sequencing transcriptome across large cohort 250 tumors to reveal differences among molecular subtypes disease, demonstrate previously unappreciated importance non-coding RNA transcripts. We identify alterations within cAMP dependent pathway ( GNAS , PRKAR1A ) which converge on GLI2 activity show that 18% have genetic event...

10.1038/s41467-021-21883-0 article EN cc-by Nature Communications 2021-03-19

Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.Five independent non-overlapping cohorts were analyzed applying genome-wide methylation arrays for chromosomal and clinical variables predictive survival.Across all cohorts, 663 identified. The most common broad copy number event was (18.9%), followed by 6q loss (8.6%), 9p (6.5%), 22q (6.8%). tumors, there significant...

10.1093/neuonc/noab034 article EN Neuro-Oncology 2021-02-09

We sought to investigate clinical outcomes of relapsed medulloblastoma and compare molecular features between patient-matched diagnostic tumors.Children infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced relapse were analyzed for outcomes, including anatomic temporal patterns postrelapse survival. A largely independent, paired cohort was by DNA methylation array next-generation sequencing.A total 72 329 (22%) 52 79 (66%) patients with significant...

10.1200/jco.20.01359 article EN cc-by-nc-nd Journal of Clinical Oncology 2021-01-27

Abstract Whole-brain radiotherapy (WBRT) is the treatment backbone for many patients with brain metastasis; however, its efficacy in preventing disease progression and associated toxicity have questioned clinical impact of this approach emphasized need alternative treatments. Given limited therapeutic options available these poor understanding molecular mechanisms underlying resistance metastatic lesions to WBRT, we sought uncover actionable targets biomarkers that could help refine patient...

10.1038/s41591-022-01749-8 article EN cc-by Nature Medicine 2022-04-01

The use of computational tools to identify biological targets natural products with anticancer properties and unknown modes action is gaining momentum. We employed self-organizing maps deconvolute the phenotypic effects piperlongumine (PL) establish a link modulation human transient receptor potential vanilloid 2 (hTRPV2) channel. structure PL-bound full-length rat TRPV2 channel was determined by cryo-EM. PL binds allosteric pocket responsible for new mode activity against glioblastoma (GBM)...

10.1021/acscentsci.1c00070 article EN cc-by ACS Central Science 2021-04-14

Medulloblastoma is the most common malignant pediatric brain tumor, with metastases present at diagnosis conferring a poor prognosis. Mechanisms of dissemination are poorly understood and metastatic lesions genetically divergent from matched primary tumor. Effective less toxic therapies that target both compartments have yet to be identified. Here, we report analysis several large nonoverlapping cohorts patients medulloblastoma reveals MET kinase as marker sonic hedgehog (SHH)-driven...

10.1158/0008-5472.can-13-3629 article EN Cancer Research 2014-11-13

Background Children presenting with medulloblastoma have a wide range of initial symptoms. However, the influence underlying tumor biology on presentation is currently unknown. In light recent discovery distinct subgroups, we sought to define childhood in subgroup specific manner. Procedure We assembled cohort 126 cases at Hospital for Sick between 1994 and 2012 determined affiliation using nanoString. Clinical details pertaining were through retrospective chart review. Results The median...

10.1002/pbc.25002 article EN Pediatric Blood & Cancer 2014-02-25
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