Francesc Palau

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 26

Top Venues

Human genetics

European journal of human genetics : EJHG

Cell death discovery

Biology open

Hospital Clínic de Barcelona

University of Valencia (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Clínic de Barcelona Mar 01 2017

Spain

Consultant :: Internal Medicine, Clínic Institut of Medicine & Dermatology [ICMiD]

University of Barcelona Nov 01 2015

Spain

Visiting and Clinical Adjunct Professor of Pediatrics - Accreditated as Full Professor by the Catalonian Quality Agency :: Pediatrics Division at the Dept. of Surgery and Medical-Chirurgical Specialties

Hospital Sant Joan de Déu (HSJD)

Spain

Head of Department and IPER Director - Director of the Institut de Recerca Sant Joan de Déu (IRSJD) :: Genetic and Molecular Medicine, Pediatric Institute for Rare Diseases (IPER)

CIBER on Rare Diseases (CIBERER) Nov 27 2006

Spain

Group Leader :: Pediatric and Developmental Medicine

CIBER on Rare Diseases (CIBERER) Nov 26 2006 - Feb 24 2016

Spain

Scientific Director

University of Castilla-La Mancha

Spain

Visiting and Adjunct Professor of Human Genetics :: Faculty of Medicine at Ciudad Real

Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe

Spain

Senior Investigator and Programme Director :: Rare and Genetic Diseases Programme

Consejo Superior de Investigaciones Científicas (CSIC) Sep 08 2000 - Dec 31 2012

Spain

Investigator and Research Professor (on leave in absence) :: Instituto de Biomedicina de Valencia (IBV)

University of Valencia Dec 14 1994 - Sep 30 2002

Spain

Adjunct Professor :: Genetics

Hospital Universitari i Politècnic La Fe Jan 01 1991 - Aug 07 2000

Spain

Adjunct Geneticist and Attending Physician :: Genetics and Pediatric Medicine

St. Mary's Hospital Medical School, University of London Nov 01 1989 - Dec 31 1990

United Kingdom

BAE Postdoc Fellow and Visiting Scientist :: Biochemistry and Molecular Genetics

Hospital Universitari i Politècnic La Fe May 01 1985 - Mar 31 1989

Spain

Fellow and Resident :: Pediatrics

University of Valencia and Hospital Clínic of Valencia Jan 01 1983 - Apr 30 1985

Spain

PhD Student :: Medicine and Hematology/Oncology Service

Hospital Municipal Santa Lucía Aug 15 1982 - Sep 15 1982

Spain

Attending Physician :: Emergencies

Education History

University of Valencia - Dec 15 1989

Spain

PHD :: Medicine

Institut Rei En Jaume Oct 01 1969 - Jun 30 1976

Spain

BSC

Publications

Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Marian León, Javier Prieto, María Micaela Molina-Navarro, Francisco García-García, Manuela Barneo-Muñoz, Xavier Ponsoda, Rosana Sáez, Francesc Palau, Joaquín Dopazo, Juan Carlos Izpisua Belmonte, Josema Torres
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. Cell death discovery 9 (1) (2023)
Jordi Pijuan, Irina F Sevrioukova, Óscar García-Campos, Mar Hernaez, Laura Gort, Marta Gómez-Chiari, Cristina Jou, Santiago Candela-Cantó, Jordi Rumiá, Rafael Artuch, Francesc Palau, Janet Hoenicka, Juan Dario Ortigoza-Escobar
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation. Movement disorders : official journal of the Movement Disorder Society (2023)
Lara Cantarero, Gisela García-Vargas, Janet Hoenicka, Francesc Palau
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites. Biology open (2023)
Jordi Pijuan, Alba Vilanova-Adell, Dídac Casas-Alba, Jaume Campistol, Janet Hoenicka, Francesc Palau
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. Clinical genetics (2023)
Marian León, Javier Prieto, María Micaela Molina-Navarro, Francisco García-García, Manuela Barneo-Muñoz, Xavier Ponsoda, Rosana Sáez, Francesc Palau, Joaquín Dopazo, Juan Carlos Izpisua Belmonte, Josema Torres
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. Cell death discovery 9 (1) (2023)
David Lorenzo, Montserrat Esquerda, Margarita Bofarull, Victoria Cusi, Helena Roig, Joan Bertran, Joan Carrera, Francesc Torralba, Francisco José Cambra, Martí Vila, Martina Garriga, Francesc Palau
The reuse of genetic information in research and informed consent. European journal of human genetics : EJHG (2023)
Cristina Nuevo-Tapioles, Fulvio Santacatterina, Brenda Sánchez-Garrido, Cristina Núñez de Arenas, Adrián Robledo-Bérgamo, Paula Martínez-Valero, Lara Cantarero, Beatriz Pardo, Janet Hoenicka, Michael P Murphy, Jorgina Satrústegui, Francesc Palau, José M Cuezva
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease. Human molecular genetics 30 (24) (2022)
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, Øystein L Holla, Øyvind L Busk, Katherine B Burke, Francis H Sansbury, Júlia Baptista, Andrew E Fry, Derek Lim, Stephen R A Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faltera, Salvador Climent, Roser Urreizti, Janet Hoenicka, Francesc Palau, Ana S A Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G Haug, Wenche Moe Thorstensen
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American journal of medical genetics. Part A (2021)
Jordi Pijuan, Juan Dario Ortigoza-Escobar, Juan Ortiz, Adrián Alcalá, María José Calvo, Mariona Cubells, Cristina Hernando-Davalillo, Francesc Palau, Janet Hoenicka
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research 14 (6) (2021)
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. International journal of molecular sciences 22 (8) (2021)
Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C Muñoz-Lasso, Francesc Palau, Pilar González-Cabo
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia. Disease models & mechanisms 9 (6) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Francesc Palau