Andreas Janecke
Medizinische Universität Innsbruck
H-index: 63
Europe-Austria
Top articles of Andreas Janecke
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Exploring the link between disease-causing CLC-7 mutations and lysosomal pH | Biophysical Journal | Vedrana Mikusevic Jacob K Hilton Reena Jethva Andreas Janecke Richard Steet | 2024/2/8 |
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | npj Genomic Medicine | Jil D Stegmann Jeshurun C Kalanithy Gabriel C Dworschak Nina Ishorst Enrico Mingardo | 2024/3/1 |
CRISP-Cas double nicking targets disease-causing keratin 9 variant in keratoderma to prevent intermediate filament collapse | EXPERIMENTAL DERMATOLOGY | T Trafoier D Ortner-Tobider S Hainzl T Kocher U Koller | 2024/3 |
Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1 | American journal of ophthalmology | Karynne Patterson Jessica X Chong Doug D Chung Walter Lisch Carol L Karp | 2024/2/1 |
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity | Clinical Genetics | Georg‐Friedrich Vogel Alexandra Podpeskar Dietmar Rieder Helin Salzer Dorota Garczarczyk‐Asim | 2024/3/29 |
SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes | Journal of the Endocrine Society | Chris Smith Adam Jackson Ahmed Al-Salihi Andreas Janecke Elisabeth Steichen | 2023/10 |
Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction | Gastroenterology Report | Peter Heinz-Erian Andreas R Janecke Thomas Müller Peter Rehder Elisabeth Bruder | 2023/1/1 |
SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption | Genes | Ferda Ö Hoşnut Andreas R Janecke Gülseren Şahin Georg F Vogel Naz G Lafcı | 2023/6/27 |
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology | European Journal of Human Genetics | Henry Oppermann Elia Marcos-Grañeda Linnea A Weiss Christina A Gurnett Anne Marie Jelsig | 2023/11 |
Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes | Endocrine Abstracts | Chris Smith Adam Jackson Ahmed Al-Salihi Andreas Janecke Elisabeth Steichen | 2023/5/2 |
UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking | The Journal of Clinical Investigation | Rémi Duclaux-Loras Corinne Lebreton Jérémy Berthelet Fabienne Charbit-Henrion Ophélie Nicolle | 2023/3/23 |
Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant | Genes | Julia Vodopiutz Lisa-Maria Steurer Florentina Haufler Franco Laccone Dorota Garczarczyk-Asim | 2023/4/7 |
Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease | Hepatology Communications | Marlene Panzer André Viveiros Benedikt Schaefer Nadja Baumgartner Klaus Seppi | 2022/7 |
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features | Nature Genetics | Bruno Reversade Nathalie Escande-Beillard Aikaterini Dimopoulou Björn Fischer Serene C Chng | 2022/2 |
Clinical and molecular features of 66 patients with musculocontractural Ehlers− Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) | Journal of medical genetics | Mari Minatogawa Ai Unzaki Hiroko Morisaki Delfien Syx Tohru Sonoda | 2022/9/1 |
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) | Nature genetics | Bruno Reversade Nathalie Escande-Beillard Aikaterini Dimopoulou Björn Fischer Serene C Chng | 2009/8/2 |
Further delineation of SLC9A3‐related congenital sodium diarrhea | Molecular Genetics & Genomic Medicine | Ema Bogdanic Thomas Müller Peter Heinz‐Erian Dorota Garczarczyk‐Asim Andreas R Janecke | 2022/8 |
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia | Maria Solaki Britta Baumann Peggy Reuter Sten Andreasson Isabelle Audo | 2022/7 | |
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-associated graft inflammation and steatosis after liver transplantation | Children | Anna M Kavallar Franka Messner Stefan Scheidl Rupert Oberhuber Stefan Schneeberger | 2022/12/14 |
Early onset congenital diarrheas; single center experience | Pediatrics & Neonatology | Murat Cakir Elif Sag Burcu Guven Ulas Emre Akbulut Fatma Issi | 2021/11/1 |
