Andrea Superti-Furga

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 33

Top Venues

American journal of medical genetics. Part A

Genes

Journal of medical genetics

Orphanet journal of rare diseases

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

Publications

Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S van Dijk, David Owen Sillence
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification. Orphanet journal of rare diseases 19 (1) (2024)
Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S van Dijk, David Owen Sillence
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification. Orphanet journal of rare diseases 19 (1) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S van Dijk, David Owen Sillence
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification. Orphanet journal of rare diseases 19 (1) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne Sophie Denommé-Pichon, Antonio Vitobello, Wesley Patterson, Raymond Louie, Filippo Pinto E Vairo, Eric W Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva Mc Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Journal of medical genetics (2023)
Beryl Royer-Bertrand, Sebastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga, Jean-Marc Good
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother. American journal of medical genetics. Part A (2023)
Viola Trevisani, Eleonora Balestri, Manuela Napoli, Stefano Giuseppe Caraffi, Maria Chiara Baroni, Francesca Peluso, Colonna Anna, Lorenzo Lughetti, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature. Genes 14 (9) (2023)
Beryl Royer-Bertrand, Sebastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga, Jean-Marc Good
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother. American journal of medical genetics. Part A (2023)
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G J Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes 13 (2) (2022)
Lorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, Rosalba Bergamaschi, Laura Mazzanti, Emanuela Scarano, Andrea Finocchi, Caterina Cancrini, Birgit Zirn, Ingrid Kühnle, Christof Maria Kramm, Yasemin Alanay, Wendy D Jones, Melita Irving, Ataf Hussain Sabir, Jan-Inge Henter, Birgit Borgström, Ann Nordgren, Anna Hammarsjö, Caterina Putti, Chiara Mozzato, Daniela Zuccarello, Gen Nishimura, Luisa Bonafè, Giedre Grigelioniene, Sheila Unger, Andrea Superti-Furga
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. American journal of medical genetics. Part A 185 (2) (2021)
Isis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, Virginie G Peter, Athina Fouriki, Christophe Bonvin, Armand Bottani, Camille Kumps, Federica Angelini, Felicitas Bellutti Enders, Stéphanie Christen-Zaech, Mattia Rizzi, Raffaele Renella, Maja Beck-Popovic, Claudia Poloni, Valérie Frossard, Jean-Louis Blouin, Carlo Rivolta, Orbicia Riccio, Fabio Candotti, Michael Hofer, Sheila Unger, Andrea Superti-Furga
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. Clinical genetics 99 (6) (2021)
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes 13 (1) (2021)
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations. Genes 12 (9) (2021)
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill Anne Rosenfeld, Jennifer A Bassetti, Oana Moldovan, Emily O'Heir, Lindsay C Burrage, Jake Allen, Lisa T Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, null null, Nadia Chabane, Elaine H Zackai, Sebastien Lebon, Beth Keena, Elizabeth Joyce Bhoj, Muhammad Umair, Dong Li, Kirsten Ann Donald, Andrea Superti-Furga
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism 12 (1) (2021)
Jean-Marc Good, Isis Atallah, Mayté Castro Jimenez, David H Benninger, Thierry Kuntzer, Andrea Superti-Furga, Christel Tran
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges. Genes 12 (5) (2021)
Ahmed El Mouatani, Geraldine van Winckel, Khaoula Zaafrane-Khachnaoui, Sandra Whalen, Amale Achaiaa, Sophie Kaltenbach, Andrea Superti-Furga, Michel Vekemans, Heidi Fodstad, Fabienne Giuliano, Tania Attie-Bitach
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. American journal of medical genetics. Part A 185 (12) (2021)
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, Barbara Robens, Andrea Guerin, Sébastien Lebon, Annapurna Poduri, Lorena Travaglini, Federica Graziola, Alexandra Afenjar, Boris Keren, Valerio Licursi, Alessandro Capuano, Bruno Dallapiccola, Andrea Superti-Furga, Antonio Novelli
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Journal of medical genetics (2021)
Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852) (2021)
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, Giovanni Foletti, Vincent Guinchat, Christel Tran, Andrea Superti-Furga, Jean-Marc Good
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures. American journal of medical genetics. Part A 185 (8) (2021)
Mathieu Quinodoz, Virginie G Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbariasad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature communications 12 (1) (2021)
Sebastien Lebon, Mathieu Quinodoz, Virginie G Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes 12 (9) (2021)
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos-Xavier, Andrea Superti-Furga
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia. American journal of medical genetics. Part A (2021)
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frédéric Tran Mau Them, Antonio Vitobello, Marcus Cy Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert-Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphne Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian Hon-Yin Chung, Elliott Sherr, Christian Netzer, Christian Patrick Schaaf, Florian Erger
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of medical genetics (2021)
Chiara Paganini, Chiara Gramegna Tota, Andrea Superti-Furga, Antonio Rossi
Skeletal Dysplasias Caused by Sulfation Defects. International journal of molecular sciences 21 (8) (2020)
Virginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Granse, Pietro Farinelli, Andrea Superti-Furga, Sten Andréasson, Carlo Rivolta
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic genetics 40 (2) (2019)
Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio B Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo D Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C Engle, Sheila Unger, Frederic Shapiro, Andrea Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Sofia Torreggiani, Marta Torcoletti, Belinda Campos-Xavier, Francesco Baldo, Carlo Virginio Agostoni, Andrea Superti-Furga, Giovanni Filocamo
Progressive pseudorheumatoid dysplasia: a rare childhood disease. Rheumatology international 39 (3) (2018)
Belinda Campos-Xavier, R Curtis Rogers, Florence Niel-Bütschi, Catarina Ferreira, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. American journal of medical genetics. Part A 176 (12) (2018)
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F Gisou van der Goot
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nature communications 8 (2017)
Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Clara Giliani, Pietro Luigi Poliani, Luisa Imberti, A Kerry Dobbs, Fabienne E Poulain, Alberto Martini, John Manis, Robert J Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M Puck, Juan-Carlos Zúñiga-Pflücker, Leonard I Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi Daniele Notarangelo
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. The Journal of experimental medicine 214 (3) (2017)
Clara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, Maja Tarailo-Graovac, Sara Balzano, Beryl Royer-Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier-Daire, Delphine Heron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos-Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand-Arzamendi, Jacob Rozmus, Keith Harshman, Brian J Stevenson, Enrico Girardi, Giulio Superti-Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J Ross, Margot I Van Allen, Andrea Rossi, Udo F Engelke, Leo A J Kluijtmans, Ed van der Heeft, Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas Boltje, Wyeth W Wasserman, Carlo Rivolta, Sheila Unger, Dirk J Lefeber, Ron A Wevers, Andrea Superti-Furga
NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature genetics 48 (7) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Andrea Superti-Furga