Joan A Puig-Butillé

Affiliations

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Molecular Biology Core, Biomedical Diagnostic Center, Melanoma Unit, Hospital Clínic de Barcelona, Institut d'Investigacions Biomédiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain.

Publications (20)

Technical Evaluation of the COBAS EGFR Semiquantitative Index (SQI) for Plasma cfDNA Testing in NSCLC Patients with EGFR Exon 19 Deletions.

Diagnostics (Basel, Switzerland)

Avec: José Manuel González de Aledo-Castillo , Samira Serhir-Sgheiri , Neus Calbet-Llopart , Ainara Arcocha , Pedro Jares , Noemí Reguart , Joan Antón Puig-Butillé

Analytical validation of HER2DX genomic test for early-stage HER2-positive breast cancer.

ESMO open

Avec: M Marín-Aguilera , P Jares , E Sanfeliu , G Villacampa , E Hernández-Lllán , A I Martínez-Puchol , S Shankar , B González-Farré , A G Waks , F Brasó-Maristany , F Pardo , D K Manning , J A Abery , J Curaba , L Moon , O Gordon , P Galván , P Wachirakantapong , O Castillo , C M Nee , P Blasco , T H Senevirathne , V Sirenko , O Martínez-Sáez , A Aguirre , I E Krop , Z Li , P Spellman , O Metzger Filho , K Polyak , P Michaels , J A Puig-Butillé , A Vivancos , J Matito , W Buckingham , C M Perou , P Villagrasa-González , A Prat , J S Parker , L Paré

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.

Annals of clinical and translational neurology

Avec: Sergi Borrego-Écija , Anna Antonell , Joan Anton Puig-Butillé , Inmaculada Pericot , Carme Prat-Bravo , Maria Teresa Abellan-Vidal , Javier Mallada , Jaume Olives , Neus Falgàs , Rafael Oliva , Albert Lladó , Raquel Sánchez-Valle

Monitoring of Donor-Derived Cell-Free DNA by Short Tandem Repeats: Concentration of Total Cell-Free DNA and Fragment Size for Acute Rejection Risk Assessment in Liver Transplantation.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society

Avec: Esther Fernández-Galán , Celia Badenas , Constantino Fondevila , Wladimiro Jiménez , Miquel Navasa , Joan Anton Puig-Butillé , Mercè Brunet

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

The British journal of dermatology

Avec: E Chacón-Solano , C León , F Díaz , F García-García , M García , M J Escámez , S Guerrero-Aspizua , C J Conti , Á Mencía , L Martínez-Santamaría , S Llames , M Pévida , J Carbonell-Caballero , J A Puig-Butillé , R Maseda , S Puig , R de Lucas , E Baselga , F Larcher , J Dopazo , M Del Río

DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients.

Frontiers in medicine

Avec: Miriam Potrony , Tariq Sami Haddad , Gemma Tell-Martí , Pol Gimenez-Xavier , Carlos Leon , Marta Pevida , Judit Mateu , Celia Badenas , Cristina Carrera , Josep Malvehy , Paula Aguilera , Sara Llames , Maria José Escámez , Joan A Puig-Butillé , Marcela Del Río , Susana Puig

Influence of germline genetic variants on dermoscopic features of melanoma.

Pigment cell & melanoma research

Avec: Flavia Carolina Pozzobon , Gemma Tell-Marti , Neus Calbet-Llopart , Alicia Barreiro , Natalia Espinosa , Míriam Potrony , Beatriz Alejo , Sebastian Podlipnik , Marc Combalia , Joan Anton Puig-Butillé , Cristina Carrera , Josep Malvehy , Susana Puig

A novel approach for the non-invasive diagnosis of pulmonary nodules using low-depth whole-genome sequencing of cell-free DNA.

Translational lung cancer research

Avec: Bin Zhang , Han Liang , Weiran Liu , Xinlan Zhou , Sitan Qiao , Fuqiang Li , Pengfei Tian , Chenguang Li , Yuchen Ma , Hua Zhang , Zhenfa Zhang , Shigeki Nanjo , Alessandro Russo , Joan Anton Puig-Butillé , Kui Wu , Changli Wang , Xin Zhao , Dongsheng Yue

Molecular characterization of advanced non-small cell lung cancer patients by cfDNA analysis: experience from routine laboratory practice.

Journal of thoracic disease

Avec: José Manuel González de Aledo-Castillo , Ainara Arcocha , Iván Victoria , Ana Isabel Martinez-Puchol , Cristina Sánchez , Pedro Jares , Gabriel Felipe Rodríguez , Núria Viñolas , Roxana Reyes , Noemí Reguart , Joan Antón Puig-Butillé

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations.

The Journal of investigative dermatology

Avec: Vanessa Martins da Silva , Estefania Martinez-Barrios , Gemma Tell-Martí , Marc Dabad , Cristina Carrera , Paula Aguilera , Daniel Brualla , Anna Esteve-Codina , Asunción Vicente , Susana Puig , Joan Anton Puig-Butillé , Josep Malvehy

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Pigment cell & melanoma research

Avec: Neus Calbet-Llopart , Mirella Pascini-Garrigos , Gemma Tell-Martí , Miriam Potrony , Vanessa Martins da Silva , Alicia Barreiro , Susana Puig , Guillaume Captier , Isabelle James , Nathalie Degardin , Cristina Carrera , Josep Malvehy , Heather C Etchevers , Joan Anton Puig-Butillé

Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus.

Pigment cell & melanoma research

Avec: Antònia Vinyals , Josep R Ferreres , Neus Calbet-Llopart , Raquel Ramos , Gemma Tell-Martí , Cristina Carrera , Joaquim Marcoval , Susana Puig , Josep Malvehy , Joan Anton Puig-Butillé , Àngels Fabra

Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.

The British journal of dermatology

Avec: Neus Calbet-Llopart , Marc Combalia , Anil Kiroglu , Miriam Potrony , Gemma Tell-Martí , Andrea Combalia , Albert Brugues , Sebastian Podlipnik , Cristina Carrera , Susana Puig , Josep Malvehy , Joan Anton Puig-Butillé

Detection of cell-free circulating BRAF

The British journal of dermatology

Avec: N Calbet-Llopart , M Potrony , G Tell-Martí , C Carrera , A Barreiro , P Aguilera , S Podlipnik , S Puig , J Malvehy , J A Puig-Butillé

Development and validation of the new HER2DX assay for predicting pathological response and survival outcome in early-stage HER2-positive breast cancer.

EBioMedicine

Avec: Aleix Prat , Valentina Guarneri , Tomás Pascual , Fara Brasó-Maristany , Esther Sanfeliu , Laia Paré , Francesco Schettini , Débora Martínez , Pedro Jares , Gaia Griguolo , Maria Vittoria Dieci , Javier Cortés , Antonio Llombart-Cussac , Benedetta Conte , Mercedes Marín-Aguilera , Nuria Chic , Joan Anton Puig-Butillé , Antonio Martínez , Patricia Galván , Yi-Hsuan Tsai , Blanca González-Farré , Aurea Mira , Ana Vivancos , Patricia Villagrasa , Joel S Parker , Pierfranco Conte , Charles M Perou

Cell-free DNA concentration and fragment size fraction correlate with FDG PET/CT-derived parameters in NSCLC patients.

European journal of nuclear medicine and molecular imaging

Avec: J M González de Aledo-Castillo , S Casanueva-Eliceiry , A Soler-Perromat , D Fuster , V Pastor , N Reguart , N Viñolas , R Reyes , I Vollmer , P Paredes , J A Puig-Butillé

Transcriptomic and Genetic Associations between Alzheimer's Disease, Parkinson's Disease, and Cancer.

Cancers

Avec: Jaume Forés-Martos , Cesar Boullosa , David Rodrigo-Domínguez , Jon Sánchez-Valle , Beatriz Suay-García , Joan Climent , Antonio Falcó , Alfonso Valencia , Joan Anton Puig-Butillé , Susana Puig , Rafael Tabarés-Seisdedos

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR.

PloS one

Avec: José Luis Villanueva-Cañas , Eva Gonzalez-Roca , Aitor Gastaminza Unanue , Esther Titos , Miguel Julián Martínez Yoldi , Andrea Vergara Gómez , Joan Anton Puig-Butillé

Analysis of dermoscopic changes of blue nevi on digital follow-up: A 21-year retrospective cohort study.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: Francesc Alamon-Reig , Marc Combalia , Raquel Albero-González , Llúcia Alòs , Cristina Carrera , Joan Anton Puig-Butillé , José Luis Villanueva-Cañas , Susana Puig , Josep Malvehy , Sebastian Podlipnik

Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.

British journal of cancer

Avec: Juan Carlos Laguna , Belén Pastor , Irene Nalda , Sara Hijazo-Pechero , Cristina Teixido , Miriam Potrony , Joan Antón Puig-Butillé , Laura Mezquita

Réseau de co-auteurs

Joan Anton Puig-Butillé 12 collaborations

Susana Puig 8 collaborations

Cristina Carrera 7 collaborations

Josep Malvehy 7 collaborations

Neus Calbet-Llopart 5 collaborations

Gemma Tell-Martí 5 collaborations

J A Puig-Butillé 4 collaborations

Miriam Potrony 4 collaborations

Pedro Jares 3 collaborations

Joan Antón Puig-Butillé 3 collaborations

Sebastian Podlipnik 3 collaborations

Marc Combalia 3 collaborations

José Manuel González de Aledo-Castillo 2 collaborations

Ainara Arcocha 2 collaborations

Noemí Reguart 2 collaborations

Celia Badenas 2 collaborations

S Puig 2 collaborations

Paula Aguilera 2 collaborations

Alicia Barreiro 2 collaborations

Vanessa Martins da Silva 2 collaborations

José Luis Villanueva-Cañas 2 collaborations

Samira Serhir-Sgheiri 1 collaboration

M Marín-Aguilera 1 collaboration

P Jares 1 collaboration

E Sanfeliu 1 collaboration

G Villacampa 1 collaboration

E Hernández-Lllán 1 collaboration

A I Martínez-Puchol 1 collaboration

S Shankar 1 collaboration

B González-Farré 1 collaboration

A G Waks 1 collaboration

F Brasó-Maristany 1 collaboration

F Pardo 1 collaboration

D K Manning 1 collaboration

J A Abery 1 collaboration

J Curaba 1 collaboration

L Moon 1 collaboration

O Gordon 1 collaboration

P Galván 1 collaboration

P Wachirakantapong 1 collaboration

O Castillo 1 collaboration

C M Nee 1 collaboration

P Blasco 1 collaboration

T H Senevirathne 1 collaboration

V Sirenko 1 collaboration

O Martínez-Sáez 1 collaboration

A Aguirre 1 collaboration

I E Krop 1 collaboration

Z Li 1 collaboration

P Spellman 1 collaboration

O Metzger Filho 1 collaboration

K Polyak 1 collaboration

P Michaels 1 collaboration

A Vivancos 1 collaboration

J Matito 1 collaboration

W Buckingham 1 collaboration

C M Perou 1 collaboration

P Villagrasa-González 1 collaboration

A Prat 1 collaboration

J S Parker 1 collaboration

L Paré 1 collaboration

Sergi Borrego-Écija 1 collaboration

Anna Antonell 1 collaboration

Inmaculada Pericot 1 collaboration

Carme Prat-Bravo 1 collaboration

Maria Teresa Abellan-Vidal 1 collaboration

Javier Mallada 1 collaboration

Jaume Olives 1 collaboration

Neus Falgàs 1 collaboration

Rafael Oliva 1 collaboration

Albert Lladó 1 collaboration

Raquel Sánchez-Valle 1 collaboration

Esther Fernández-Galán 1 collaboration

Constantino Fondevila 1 collaboration

Wladimiro Jiménez 1 collaboration

Miquel Navasa 1 collaboration

Mercè Brunet 1 collaboration

E Chacón-Solano 1 collaboration

C León 1 collaboration

F Díaz 1 collaboration

F García-García 1 collaboration

M García 1 collaboration

M J Escámez 1 collaboration

S Guerrero-Aspizua 1 collaboration

C J Conti 1 collaboration

Á Mencía 1 collaboration

L Martínez-Santamaría 1 collaboration

S Llames 1 collaboration

M Pévida 1 collaboration

J Carbonell-Caballero 1 collaboration

R Maseda 1 collaboration

R de Lucas 1 collaboration

E Baselga 1 collaboration

F Larcher 1 collaboration

J Dopazo 1 collaboration

M Del Río 1 collaboration

Tariq Sami Haddad 1 collaboration

Pol Gimenez-Xavier 1 collaboration

Carlos Leon 1 collaboration

Marta Pevida 1 collaboration

Judit Mateu 1 collaboration

Sara Llames 1 collaboration

Maria José Escámez 1 collaboration

Marcela Del Río 1 collaboration

Flavia Carolina Pozzobon 1 collaboration

Gemma Tell-Marti 1 collaboration

Natalia Espinosa 1 collaboration

Míriam Potrony 1 collaboration

Beatriz Alejo 1 collaboration

Bin Zhang 1 collaboration

Han Liang 1 collaboration

Weiran Liu 1 collaboration

Xinlan Zhou 1 collaboration

Sitan Qiao 1 collaboration

Fuqiang Li 1 collaboration

Pengfei Tian 1 collaboration

Chenguang Li 1 collaboration

Yuchen Ma 1 collaboration

Hua Zhang 1 collaboration

Zhenfa Zhang 1 collaboration

Shigeki Nanjo 1 collaboration

Alessandro Russo 1 collaboration

Kui Wu 1 collaboration

Changli Wang 1 collaboration

Xin Zhao 1 collaboration

Dongsheng Yue 1 collaboration

Iván Victoria 1 collaboration

Ana Isabel Martinez-Puchol 1 collaboration

Cristina Sánchez 1 collaboration

Gabriel Felipe Rodríguez 1 collaboration

Núria Viñolas 1 collaboration

Roxana Reyes 1 collaboration

Estefania Martinez-Barrios 1 collaboration

Marc Dabad 1 collaboration

Daniel Brualla 1 collaboration

Anna Esteve-Codina 1 collaboration

Asunción Vicente 1 collaboration

Mirella Pascini-Garrigos 1 collaboration

Guillaume Captier 1 collaboration

Isabelle James 1 collaboration

Nathalie Degardin 1 collaboration

Heather C Etchevers 1 collaboration

Antònia Vinyals 1 collaboration

Josep R Ferreres 1 collaboration

Raquel Ramos 1 collaboration

Joaquim Marcoval 1 collaboration

Àngels Fabra 1 collaboration

Anil Kiroglu 1 collaboration

Andrea Combalia 1 collaboration

Albert Brugues 1 collaboration

N Calbet-Llopart 1 collaboration

M Potrony 1 collaboration

G Tell-Martí 1 collaboration

C Carrera 1 collaboration

A Barreiro 1 collaboration

P Aguilera 1 collaboration

S Podlipnik 1 collaboration

J Malvehy 1 collaboration

Aleix Prat 1 collaboration

Valentina Guarneri 1 collaboration

Tomás Pascual 1 collaboration

Fara Brasó-Maristany 1 collaboration

Esther Sanfeliu 1 collaboration

Laia Paré 1 collaboration

Francesco Schettini 1 collaboration

Débora Martínez 1 collaboration

Gaia Griguolo 1 collaboration

Maria Vittoria Dieci 1 collaboration

Javier Cortés 1 collaboration

Antonio Llombart-Cussac 1 collaboration

Benedetta Conte 1 collaboration

Mercedes Marín-Aguilera 1 collaboration

Nuria Chic 1 collaboration

Antonio Martínez 1 collaboration

Patricia Galván 1 collaboration

Yi-Hsuan Tsai 1 collaboration

Blanca González-Farré 1 collaboration

Aurea Mira 1 collaboration

Ana Vivancos 1 collaboration

Patricia Villagrasa 1 collaboration

Joel S Parker 1 collaboration

Pierfranco Conte 1 collaboration

Charles M Perou 1 collaboration

J M González de Aledo-Castillo 1 collaboration

S Casanueva-Eliceiry 1 collaboration

A Soler-Perromat 1 collaboration

D Fuster 1 collaboration

V Pastor 1 collaboration

N Reguart 1 collaboration

N Viñolas 1 collaboration

R Reyes 1 collaboration

I Vollmer 1 collaboration

P Paredes 1 collaboration

Jaume Forés-Martos 1 collaboration

Cesar Boullosa 1 collaboration

David Rodrigo-Domínguez 1 collaboration

Jon Sánchez-Valle 1 collaboration

Beatriz Suay-García 1 collaboration

Joan Climent 1 collaboration

Antonio Falcó 1 collaboration

Alfonso Valencia 1 collaboration

Rafael Tabarés-Seisdedos 1 collaboration

Eva Gonzalez-Roca 1 collaboration

Aitor Gastaminza Unanue 1 collaboration

Esther Titos 1 collaboration

Miguel Julián Martínez Yoldi 1 collaboration

Andrea Vergara Gómez 1 collaboration

Francesc Alamon-Reig 1 collaboration

Raquel Albero-González 1 collaboration

Llúcia Alòs 1 collaboration

Juan Carlos Laguna 1 collaboration

Belén Pastor 1 collaboration

Irene Nalda 1 collaboration

Sara Hijazo-Pechero 1 collaboration

Cristina Teixido 1 collaboration

Laura Mezquita 1 collaboration