Andreas Janecke

Innsbruck Medical University — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

61h-index17.5kcitations10.0kworks0.62yr avg
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Research Topics

Metabolism and Genetic Disorders(40), Liver Disease Diagnosis and Treatment(30), Connective tissue disorders research(30), Immunodeficiency and Autoimmune Disorders(27), Corneal surgery and disorders(25)

Publications1.1k total

FUNCTIONAL ANALYSIS OF NON-CANONICAL FANCJ VARIANTS IN FANCONI ANEMIA
EJC Paediatric Oncology·2025Open Access
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings
Genes·2025Open Access
Adrenal insufficiency associated with mutations in haem biosynthesis genes
Endocrine Abstracts·2025· 1 cited
Congenital enteropathy caused by ezrin deficiency
Human Genetics·2025Open Access
Altered chaperone–nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome
JCI Insight·2025Open Access
Pathogenic Deep Intronic <scp> <i>PCSK1</i> </scp> Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Clinical Genetics·2025Open Access
Author response for "Pathogenic Deep Intronic &lt;scp&gt;&lt;i&gt;PCSK1&lt;/i&gt;&lt;/scp&gt; Variant Causes Proprotein Convertase 1/3 Deficiency in a Family"
2025
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure
Hepatology Communications·2024· 1 citedOpen Access
The Recurrent E-Cadherin (CDH1) Mutation c.760G&gt;A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer
Genes·2024· 2 citedOpen Access
<scp> <i>PERCC1</i> </scp> ‐Related Congenital Enteropathy
Clinical Genetics·2024· 3 citedOpen Access
Author response for "&lt;scp&gt;&lt;i&gt;PERCC1&lt;/i&gt;&lt;/scp&gt;‐Related Congenital Enteropathy"
2024
Adrenal insufficiency associated with mutations in haem biosynthesis genes, is it a coincidence?
Endocrine Abstracts·2024
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency
International Journal of Obesity·2024Open Access
04190 Adrenal insufficiency associated with mutations in haem biosynthesis genes
2024Open Access
<scp> <i>Kinesin family member 12</i> </scp> ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity
Clinical Genetics·2024· 1 citedOpen Access
Author response for "&lt;scp&gt;&lt;i&gt;Kinesin family member 12&lt;/i&gt;&lt;/scp&gt;‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity"
2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
npj Genomic Medicine·2024· 2 citedOpen Access
Exploring the link between disease-causing CLC-7 mutations and lysosomal pH
Biophysical Journal·2024Open Access
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
American Journal of Ophthalmology·2023· 7 citedOpen Access
Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
Endocrine Abstracts·2023
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Frequent Co-authors

Thomas Müller(14), Gerd Utermann(10), Michael W. Hess(6), Peter Heinz‐Erian(6), Heinz Zoller(6), Lukas A. Huber(6), Silvia Lechner(5), Julia Vodopiutz(5), Robert Gruber(4), Hülya Kayserili(4), Peter Nürnberg(4), Birgit Krabichler(4), Matthias Schmuth(3), Kristian Pfaller(3), Frank M. Ruemmele(3), Heiko Witt(3), Christian Becker(3), Christian A. Hübner(3), Andreas Gal(3), Cecilia Giunta(3)