Andreas Janecke

Associate professor

Medical University of Innsbruck

Austria

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About

Andreas Janecke is an Associate Professor at the Medical University of Innsbruck, Austria. His research focuses on genetic disorders and congenital diseases, as evidenced by his recent publications on topics such as intellectual disability, congenital enteropathy, and metabolic disorders. He is dedicated to advancing the understanding of genetic contributions to health conditions through his work in the field.

Articles (16)

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2025

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2025

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2025

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2025

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2024

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2023

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2022

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2021

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2021

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2021

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2021

Collaborators (11)

Dietmar Rieder

Medical University of Innsbruck

AUSTRIA

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Georg-Friedrich Vogel

Medical University of Innsbruck

AUSTRIA

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Johannes A. Mayr

AUSTRIA

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Christof Brücke

Charite Universitatsmedizin Berlin Klinik für Neurologie mit Experimenteller Neurologie

GERMANY

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Klaus Rohrschneider

Ruprecht Karls Universität Heidelberg

GERMANY

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Markus Andreas Keller

Assoc. Prof. (tenured) for Biochemical Genetics

Medical University of Innsbruck

AUSTRIA

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Stefan Schneeberger

Medical University of Innsbruck

AUSTRIA

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Martin Laass

Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden

GERMANY

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Roberto Adachi

The University of Texas MD Anderson Cancer Center

UNITED STATES

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Thomas Müller

Medical University of Innsbruck

AUSTRIA

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Ruth Heidelberger

Professor

The University of Texas Health Science Center at Houston

UNITED STATES

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Andreas Janecke

Research Interests

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Articles (16)

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family

Congenital enteropathy caused by ezrin deficiency

PERCC1‐Related Congenital Enteropathy

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer

SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation

Further delineation of SLC9A3‐related congenital sodium diarrhea

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Collaborators (11)

Dietmar Rieder

Georg-Friedrich Vogel

Johannes A. Mayr

Christof Brücke

Klaus Rohrschneider

Markus Andreas Keller

Stefan Schneeberger

Martin Laass

Roberto Adachi

Thomas Müller

Ruth Heidelberger

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