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Eugen Boltshauser

Eugen Boltshauser

D-Index & Metrics

Medicine

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

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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