World's Best Scientists 2026 revealed!
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

Andrea Superti-Furga publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Andrea Superti-Furga sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 406 publications — 88th percentile

88% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Andrea Superti-Furga D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Andrea Superti-Furga sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 89 D-Index — 75th percentile

75% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

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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