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Andrea Superti-Furga

Andrea Superti-Furga

D-Index & Metrics

Genetics

D-Index
89
Citations
27821
World Ranking
1126
National Ranking
16

Medicine

D-Index
91
Citations
30628
World Ranking
11746
National Ranking
158

Overview

Andrea Superti-Furga is affiliated with the University of Lausanne in Switzerland and has an extensive publication record in the fields of Biochemistry, Genetics and Molecular Biology, with supplementary work in Medicine. Their research spans several specialized subfields, including Genetics, Molecular Biology, Cardiology and Cardiovascular Medicine, Clinical Biochemistry, and Immunology.

The scientist's work focuses on key thematic areas such as:

  • Genomics and Rare Diseases
  • Connective tissue disorders research
  • Metabolism and Genetic Disorders
  • Genetics and Neurodevelopmental Disorders
  • Cardiac electrophysiology and arrhythmias
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer

Recent publications by Andrea Superti-Furga include:

  • "Nosology of genetic skeletal disorders: 2023 revision" (2023) in American Journal of Medical Genetics Part A
  • "AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data" (2021) in Nature Communications
  • "Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator" (2021) in Nature
  • "Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity" (2022) in The American Journal of Human Genetics
  • "CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations" (2021) in Genes

Andrea Superti-Furga frequently collaborates with several co-authors, including Sheila Unger, Belinda Campos-Xavier, Christel Tran, Isis Atallah, and Mathieu Quinodoz. These collaborations reflect in a steady output of joint research publications.

The scientific works are commonly published in venues such as:

  • American Journal of Medical Genetics Part A
  • Genes
  • Orphanet Journal of Rare Diseases
  • Molecular Genetics and Metabolism Reports
  • Journal of Medical Genetics

Best Publications

  • LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

    Melanie Pepin;Ulrike Schwarze;Andrea Superti-Furga;Peter H. Byers

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

    Frank Rutsch;Nico Ruf;Sucheta Vaingankar;Mohammad R Toliat

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  • Nosology and classification of genetic skeletal disorders: 2006 revision.

    Andrea Superti-Furga;Sheila Unger

  • Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

    Deborah J. Shears;Humberto J. Vassal;Frances R. Goodman;Rodger W. Palmer

  • Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

    Yasemin Alanay;Hrispima Avaygan;Natalia Camacho;G. Eda Utine

  • PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.

    Frank Rutsch;Sucheta Vaingankar;Kristen Johnson;Ira Goldfine

  • Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

    J R Hurvitz;W M Suwairi;W Van Hul;H El-Shanti

  • The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

    Toshiyuki Fukada;Natacha Civic;Tatsuya Furuichi;Shinji Shimoda

  • Exome Sequencing and the Management of Neurometabolic Disorders

    Maja Tarailo-Graovac;Maja Tarailo-Graovac;Casper Shyr;Colin J. Ross;Gabriella A. Horvath;Gabriella A. Horvath

  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

  • Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

    Sandra Hanks;Sarah Adams;Jenny Douglas;Laura Arbour

  • Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

    Antonio Rossi;Andrea Superti-Furga

  • Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

    Superti-Furga A;Superti-Furga A;Hästbacka J;Wilcox Wr;Cohn Dh

  • Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

    Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

  • Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  • Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

    A Superti-Furga;E Gugler;R Gitzelmann;B Steinmann

Frequent Co-Authors

Sheila Unger
Sheila Unger University of Lausanne
Carlo Rivolta
Carlo Rivolta University of Basel
Bernhard Zabel
Bernhard Zabel University of Freiburg
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Beat Steinmann
Beat Steinmann University of Zurich
Deborah Krakow
Deborah Krakow University of California, Los Angeles
Geert Mortier
Geert Mortier University of Antwerp
David L. Rimoin
David L. Rimoin Cedars-Sinai Medical Center
Daniel H. Cohn
Daniel H. Cohn University of California, Los Angeles

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