Johannes Zschocke

Innsbruck Medical University — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

66h-index17.1kcitations536works1.12yr avg
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Research Topics

Metabolism and Genetic Disorders(170), Mitochondrial Function and Pathology(60), Genomics and Rare Diseases(49), Biochemical and Molecular Research(47), Folate and B Vitamins Research(40)

Publications534 total

Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al
Genetics in Medicine·2026· 1 cited
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
2025Open Access
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence
The EMBO Journal·2025· 1 citedOpen Access
Reporting Practices for Secondary Findings among ERN GENTURIS Member Institutions in 15 European Countries
2025Open Access
S3-Leitlinie „Seltene Erkrankungen der Zähne“
Oralprophylaxe & Kinderzahnmedizin·2025
Integrating Polygenic Scores into Multifactorial Breast Cancer Risk Assessment: Insights from the First Year of Clinical Implementation in Western Austria
Cancers·2025Open Access
Matrix effects influence biochemical signatures and metabolite quantification in dried blood spots
2025Open Access
European training requirements for the specialty of medical genetics
European Journal of Human Genetics·2025· 1 citedOpen Access
Gene Dosage Sensitivity and Human Genetic Diseases
Journal of Inherited Metabolic Disease·2025· 4 citedOpen Access
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
Genetics in Medicine·2025
Patients With Atopic Dermatitis Show Increased Clonal Hematopoiesis and Risk of Hematological Cancer
Allergy·2025Open Access
Ovcanalysis (Beta-Version) – ein auf maschinellem Lernen basiertes Tool zur Analyse von Kopienzahlveränderung bei Eierstockkrebs
Geburtshilfe und Frauenheilkunde·2025
DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi
Diagnostics·2025· 1 citedOpen Access
Severe COVID-19 disease is associated with genetic factors affecting plasma ACE2 receptor and CRP concentrations
Scientific Reports·2025· 3 citedOpen Access
Dental Management of Genetic Dental Disorders: A Critical Review
Journal of Dental Research·2025· 5 citedOpen Access
Genetic diagnosis of the Ehlers-Danlos syndromes
Medizinische Genetik·2024· 2 citedOpen Access
Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes
Medizinische Genetik·2024Open Access
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes
Medizinische Genetik·2024· 1 citedOpen Access
Editorial
Medizinische Genetik·2024Open Access
Circulating Tumor DNA (ctDNA) Dynamics Predict Early Response to Treatment in Metastasized Gastroesophageal Cancer (mGEC) After 2 Weeks of Systemic Treatment
Cancers·2024· 3 citedOpen Access
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Frequent Co-authors

Georg F. Hoffmann(19), Stefan Kölker(9), Peter Burgard(7), Inga Harting(6), Marianne Rohrbach(5), Daniela Karall(5), Esther M. Maier(5), Martin Lindner(5), Cecilia Giunta(4), Sven F. Garbade(4), Chris Mühlhausen(4), Ertan Mayatepek(4), U. Wendel(4), Ivo Barić(4), Thomas Meitinger(4), Peter H. Byers(3), Ines Kapferer‐Seebacher(3), Anthony Vandersteen(3), Alberto Burlina(3), Jerry Vockley(3)