World's Best Scientists 2026 revealed!
Eugen Boltshauser

Eugen Boltshauser

D-Index & Metrics

Medicine

D-Index
77
Citations
19584
World Ranking
18507
National Ranking
285

Eugen Boltshauser publication distribution in Medicine in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Medicine in 2026. The highlighted bar marks where Eugen Boltshauser sits on this spectrum.

101–120 publications: 5 scientists 121–140 publications: 26 scientists 141–160 publications: 73 scientists 161–180 publications: 155 scientists 181–200 publications: 230 scientists 201–220 publications: 363 scientists 221–240 publications: 487 scientists 241–260 publications: 545 scientists 261–280 publications: 722 scientists 281–300 publications: 768 scientists 301–320 publications: 834 scientists 321–340 publications: 895 scientists 341–360 publications: 922 scientists 361–380 publications: 838 scientists 381–400 publications: 861 scientists 401–420 publications: 918 scientists 421–440 publications: 806 scientists 441–460 publications: 771 scientists 461–480 publications: 751 scientists 481–500 publications: 713 scientists 501–520 publications: 617 scientists 521–540 publications: 611 scientists 541–560 publications: 537 scientists 561–580 publications: 504 scientists 581–600 publications: 509 scientists 601–620 publications: 396 scientists 621–640 publications: 386 scientists 641–660 publications: 371 scientists 661–680 publications: 340 scientists 681–700 publications: 336 scientists 701–720 publications: 307 scientists 721–740 publications: 259 scientists 741–760 publications: 230 scientists 761–780 publications: 228 scientists 781–800 publications: 217 scientists 801–820 publications: 204 scientists 821–840 publications: 186 scientists 841–860 publications: 177 scientists 861–880 publications: 155 scientists 881–900 publications: 139 scientists 901–920 publications: 145 scientists 921–940 publications: 116 scientists 941–960 publications: 133 scientists 961–980 publications: 91 scientists 981–1,000 publications: 96 scientists 1,001–1,020 publications: 77 scientists 1,021–1,040 publications: 70 scientists 1,041–1,060 publications: 63 scientists 1,061–1,080 publications: 77 scientists 1,081–1,100 publications: 49 scientists 1,101–1,120 publications: 54 scientists 1,121–1,140 publications: 49 scientists 1,141–1,160 publications: 51 scientists 1,161–1,180 publications: 35 scientists 1,181–1,200 publications: 39 scientists 1,201–1,220 publications: 26 scientists 1,221–1,240 publications: 37 scientists 1,241–1,260 publications: 36 scientists 1,261–1,280 publications: 27 scientists 1,281–1,300 publications: 32 scientists 1,301–1,320 publications: 28 scientists 1,321–1,340 publications: 17 scientists 1,341–1,360 publications: 30 scientists 1,361–1,380 publications: 28 scientists 1,381–1,400 publications: 17 scientists 1,401–1,420 publications: 21 scientists 1,421–1,440 publications: 15 scientists 1,441–1,460 publications: 12 scientists 1,461–1,480 publications: 12 scientists 1,481–1,500 publications: 18 scientists 1,501–1,520 publications: 14 scientists 1,521–1,540 publications: 17 scientists 1,541–1,560 publications: 15 scientists 1,561–1,580 publications: 6 scientists 1,581–1,600 publications: 2 scientists 1,601–1,620 publications: 12 scientists 1,621–1,640 publications: 11 scientists 1,641–1,660 publications: 8 scientists 1,661–1,680 publications: 5 scientists 1,681–1,700 publications: 5 scientists 1,701–1,720 publications: 10 scientists 1,721–1,740 publications: 12 scientists 1,741–1,760 publications: 14 scientists 1,761–1,780 publications: 6 scientists 1,781–1,795 publications: 5 scientists 1,796+ publications: 100 scientists
101 publications 1,796+

This scientist: 505 publications — 59th percentile

59% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 1,796 publications or more.

Eugen Boltshauser D-index placement in Medicine in 2026

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

70–71 D-Index: 226 scientists 72–73 D-Index: 391 scientists 74–75 D-Index: 574 scientists 76–77 D-Index: 730 scientists 78–79 D-Index: 891 scientists 80–81 D-Index: 972 scientists 82–83 D-Index: 1,027 scientists 84–85 D-Index: 1,003 scientists 86–87 D-Index: 960 scientists 88–89 D-Index: 970 scientists 90–91 D-Index: 922 scientists 92–93 D-Index: 839 scientists 94–95 D-Index: 808 scientists 96–97 D-Index: 779 scientists 98–99 D-Index: 668 scientists 100–101 D-Index: 611 scientists 102–103 D-Index: 630 scientists 104–105 D-Index: 513 scientists 106–107 D-Index: 541 scientists 108–109 D-Index: 445 scientists 110–111 D-Index: 429 scientists 112–113 D-Index: 400 scientists 114–115 D-Index: 393 scientists 116–117 D-Index: 318 scientists 118–119 D-Index: 302 scientists 120–121 D-Index: 287 scientists 122–123 D-Index: 255 scientists 124–125 D-Index: 256 scientists 126–127 D-Index: 252 scientists 128–129 D-Index: 230 scientists 130–131 D-Index: 179 scientists 132–133 D-Index: 168 scientists 134–135 D-Index: 163 scientists 136–137 D-Index: 159 scientists 138–139 D-Index: 134 scientists 140–141 D-Index: 134 scientists 142–143 D-Index: 118 scientists 144–145 D-Index: 109 scientists 146–147 D-Index: 106 scientists 148–149 D-Index: 74 scientists 150–151 D-Index: 79 scientists 152–153 D-Index: 80 scientists 154–155 D-Index: 87 scientists 156–157 D-Index: 57 scientists 158–159 D-Index: 74 scientists 160–161 D-Index: 69 scientists 162–163 D-Index: 60 scientists 164–165 D-Index: 53 scientists 166–167 D-Index: 39 scientists 168–169 D-Index: 42 scientists 170–171 D-Index: 32 scientists 172–173 D-Index: 39 scientists 174–175 D-Index: 40 scientists 176–177 D-Index: 28 scientists 178–179 D-Index: 19 scientists 180–181 D-Index: 23 scientists 182–183 D-Index: 31 scientists 184–185 D-Index: 18 scientists 186–187 D-Index: 20 scientists 188–189 D-Index: 22 scientists 190–191 D-Index: 13 scientists 192–193 D-Index: 21 scientists 194–195 D-Index: 12 scientists 196–197 D-Index: 12 scientists 198–199 D-Index: 14 scientists 200–201 D-Index: 15 scientists 202–203 D-Index: 13 scientists 204–205 D-Index: 10 scientists 206–207 D-Index: 8 scientists 208–209 D-Index: 4 scientists 210–211 D-Index: 12 scientists 212–213 D-Index: 11 scientists 214–215 D-Index: 10 scientists 216 D-Index: 4 scientists 217+ D-Index: 98 scientists
70 D-Index 217+

This scientist: 77 D-Index — 10th percentile

10% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 217 D-Index or more.

Overview

Eugen Boltshauser is affiliated with the University of Zurich in Switzerland. The scientific work covers domains within biochemistry, genetics, and molecular biology, as well as medicine. Their research contributions span diverse specialized subfields, including molecular biology, pediatrics, perinatology and child health, genetics, cellular and molecular neuroscience, and physiology.

The research focuses extensively on clinical and genetic aspects of pediatric neurological and metabolic disorders. Main topics studied include fetal and pediatric neurological disorders, genetic and kidney cyst diseases, hedgehog signaling pathway studies, prenatal screening and diagnostics, metabolism and genetic disorders, neonatal and fetal brain pathology, and cerebrospinal fluid and hydrocephalus.

Recent published papers provide insight into the scope of their work:

  • Pontocerebellar Hypoplasia: a Pattern Recognition Approach, 2020, The Cerebellum
  • Refining the Neuroimaging Definition of the Dandy-Walker Phenotype, 2022, American Journal of Neuroradiology
  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C, 2020, The Journal of Clinical Endocrinology & Metabolism
  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum, 2021, Journal of Medical Genetics
  • Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation, 2020, Genetics in Medicine

Frequent co-authors in their publications include Valentina Serpieri, Fulvio D'Abrusco, Stefano D'Arrigo, Romina Romaniello, and Enza Maria Valente.

Research outputs by venue are distributed across several journals and platforms. Notably, a significant number of publications appear in Neuropediatrics, followed by the American Journal of Neuroradiology, Zenodo (CERN European Organization for Nuclear Research), Journal of Medical Genetics, and Genetics in Medicine.

Best Publications

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  • Outcome of craniopharyngioma in children: long-term complications and quality of life.

    Andrea Poretti;Michael A Grotzer;Karin Ribi;Eugen Schönle

  • Clinical features and revised diagnostic criteria in Joubert syndrome.

    Bernard L. Maria;Eugen Boltshauser;Scott C. Palmer;Thang X. Tran

  • Neuropsychological long-term sequelae after posterior fossa tumour resection during childhood.

    Maja Steinlin;Sara Imfeld;Prisca Zulauf;Eugen Boltshauser

  • tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

    Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  • CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

    Francesco Brancati;Giuseppe Barrano;Jennifer L. Silhavy;Sarah E. Marsh

  • Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

    Claudia Dafinger;Max Christoph Liebau;Solaf Mohamed Elsayed;Yorck Hellenbroich

  • Spontaneous intracranial haemorrhage in children: aetiology, presentation and outcome.

    Andreas D. Meyer-Heim;Eugen Boltshauser

  • Outcome of medulloblastoma in children: long-term complications and quality of life.

    K. Ribi;C. Relly;M. A. Landolt;F. D. Alber

  • CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    Ji Eun Lee;Jennifer L Silhavy;Maha S Zaki;Jana Schroth

  • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

    Carl E.G. Bruder;Carina Hirvelä;Isabel Tapia-Paez;Ingegerd Fransson

  • Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome

    R. L. Friede;E. Boltshauser

  • The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors.

    M. Steinlin;I. Pfister;J. Pavlovic;R. Everts

  • Clinical and biochemical spectrum of D-bifunctional protein deficiency.

    Sacha Ferdinandusse;Simone Denis;Petra A. W. Mooyer;Conny Dekker

  • Follow-up in children with Joubert syndrome.

    M. Steinlin;M. Schmid;K. Landau;E. Boltshauser

  • Congenital abnormalities of the posterior fossa.

    Thangamadhan Bosemani;Gunes Orman;Eugen Boltshauser;Aylin Tekes

  • eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs.

    Marjo S. van der Knaap;Carola G.M. van Berkel;Jochen Herms;Rudy van Coster

  • Acute ischemic stroke in children versus young adults

    Sandra Bigi;Urs Fischer;Edith Wehrli;Heinrich P Mattle

Frequent Co-Authors

Enza Maria Valente
Enza Maria Valente University of Pavia
Ernst Martin
Ernst Martin University of Zurich
Francesco Brancati
Francesco Brancati University of L'Aquila
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Andrea Superti-Furga
Andrea Superti-Furga University of Lausanne
David Nadal
David Nadal University of Zurich
Maha S. Zaki
Maha S. Zaki National Research Centre, Egypt
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam

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