Caterina Marconi

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 12

Top Venues

Scientific reports

British journal of haematology

European journal of human genetics : EJHG

Blood

Hopitaux Universitaires de Geneve

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

Affiliation History

Hopitaux Universitaires de Geneve Apr 01 2019

Switzerland

Biologiste :: Departement de medecine genetique et de laboratoire

Publications

Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, Muhammad Abrar Yousaf, Jade Quartararo, Daniela De Rocco, Michela Faleschini, Caterina Marconi, Camilla Ceccatelli Berti, Valeria Bozzi, Giovanna Russo, Paola Giordano, Paola Goffrini, Silvia Bresolin, Annalisa Pastore, Anna Savoia, Alessandro Pecci
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene. British journal of haematology 205 (1) (2024)
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, Muhammad Abrar Yousaf, Jade Quartararo, Daniela De Rocco, Michela Faleschini, Caterina Marconi, Camilla Ceccatelli Berti, Valeria Bozzi, Giovanna Russo, Paola Giordano, Paola Goffrini, Silvia Bresolin, Annalisa Pastore, Anna Savoia, Alessandro Pecci
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene. British journal of haematology (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, Muhammad Abrar Yousaf, Jade Quartararo, Daniela De Rocco, Michela Faleschini, Caterina Marconi, Camilla Ceccatelli Berti, Valeria Bozzi, Giovanna Russo, Paola Giordano, Paola Goffrini, Silvia Bresolin, Annalisa Pastore, Anna Savoia, Alessandro Pecci
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene. British journal of haematology (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Caterina Marconi, Laure Lemmens, Frédéric Masclaux, Francesca Mattioli, Joël Fluss, Philippe Extermann, Purificacion Mendez, Russia Ha-Vinh Leuchter, Elissavet Stathaki, Sacha Laurent, Eva Hammar, Anne Vannier, Konstantinos Varvagiannis, Michel Guipponi, Frédérique Sloan-Bena, Jean-Louis Blouin, Marc Abramowicz, Siv Fokstuen
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis. Clinical genetics 100 (3) (2021)
Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Tartaglia Marco, Francesca Mari, null null, Alessandra Renieri, Anna Maria Pinto
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. European journal of human genetics : EJHG 28 (11) (2020)
Caterina Marconi, Christian A Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer U McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia. Blood 133 (12) (2018)

Caterina Marconi.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Caterina Marconi