Andreas R Janecke (Kerstin Kutsche, A R Janecke)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 32

Top Venues

Genes

Clinical genetics

Human mutation

European journal of human genetics : EJHG

Medical University of Innsbruck

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Medical University of Innsbruck Sep 15 2009

Austria

Associate professor :: Department of Pediatrics

Publications

Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk-Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian-She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf-Dietrich Huber, Thomas Müller, A S Knisely, Andreas R Janecke
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Clinical genetics 106 (3) (2024)
Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk-Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian-She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf-Dietrich Huber, Thomas Müller, A S Knisely, Andreas R Janecke
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Clinical genetics 106 (3) (2024)
Benno Kohlmaier, Kristijan Skok, Carolin Lackner, Greta Haselrieder, Rupert Oberhuber, Sabrina Sailer, Johannes Zschocke, Markus A Keller, A S Knisely, Andreas R Janecke
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency. International journal of obesity (2005) (2024)
Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk-Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian-She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf-Dietrich Huber, Thomas Müller, A S Knisely, Andreas R Janecke
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Clinical genetics (2024)
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R Janecke
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. Genes 14 (4) (2023)
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R Janecke
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. Genes 14 (4) (2023)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (2023)
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R Janecke
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. Genes 14 (4) (2023)
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R Janecke
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. Genes 14 (4) (2023)
Ferda Ö Hoşnut, Andreas R Janecke, Gülseren Şahin, Georg-Friedrich Vogel, Naz Guleray Lafcı, Paul Bichler, Rupert Oberhuber, Lukas A Huber, Taras Valovka, Aysel Ü Aksu
SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption. Genes 14 (7) (2023)
Anna M Kavallar, Franka Messner, Stefan Scheidl, Rupert Oberhuber, Stefan Schneeberger, Denise Aldrian, Valeria Berchtold, Murat Sanal, Andreas Entenmann, Simon Straub, Anna Gasser, Andreas R Janecke, Thomas Müller, Georg-Friedrich Vogel
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation. Children (Basel, Switzerland) 9 (12) (2022)
Ema Bogdanic, Thomas Müller, Peter Heinz-Erian, Dorota Garczarczyk-Asim, Andreas R Janecke, Aline Rückel
Further delineation of SLC9A3-related congenital sodium diarrhea. Molecular genetics & genomic medicine 10 (8) (2022)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Geoffrey Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Anna M Kavallar, Franka Messner, Stefan Scheidl, Rupert Oberhuber, Stefan Schneeberger, Denise Aldrian, Valeria Berchtold, Murat Sanal, Andreas Entenmann, Simon Straub, Anna Gasser, Andreas R Janecke, Thomas Müller, Georg-Friedrich Vogel
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation. Children (Basel, Switzerland) 9 (12) (2022)
Sandy Siegert, Gabriel T Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R Janecke, Julia Vodopiutz
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. Genes 12 (11) (2021)
Pauline E Schneeberger, Sheela Nampoothiri, Tess Holling, Dhanya Yesodharan, Malik Alawi, A S Knisely, Thomas Müller, Barbara Plecko, Andreas R Janecke, Andreas R Janecke
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. Brain : a journal of neurology 144 (10) (2021)
Andreas R Janecke, Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass, Elizabeth Sanchez, Roberto Adachi, Martha P Schatz, Ujwala S Saboo, Naveen Mittal, Klaus Rohrschneider, Johanna C Escher, Anuradha Ganesh, Sana Al Zuhaibi, Fathiya Al Murshedi, Badr M Rasheed Alsaleem, Majid Alfadhel, Siham Al Sinani, Fowzan Sami Alkuraya, Lukas A Huber, Thomas Müller, Ruth Heidelberger, Roger Janz
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Human genetics 140 (8) (2021)
Anke H M van Vugt, Marcel J C Bijvelds, Hugo R de Jonge, Kelly F Meijsen, Tanja Restin, Manuel B Bryant, Antje Ballauff, Bart Koot, Thomas Müller, Roderick H J Houwen, Andreas R Janecke, Sabine Middendorp
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations. Clinical and translational gastroenterology 12 (11) (2021)
Denise Aldrian, Georg-Friedrich Vogel, Teresa K Frey, Hasret Ayyıldız Civan, Aysel Ünlüsoy Aksu, Yaron Avitzur, Esther Ramos Boluda, Murat Cakir, Arzu Meltem Demir, Caroline Deppisch, Hans-Christoph Duba, Gesche Düker, Patrick Gerner, Jozef Hertecant, Jarmila Hornová, Simone Kathemann, Jutta Koeglmeier, Arsinoi Koutroumpa, Roland Lanzersdorfer, Raffi Lev-Tzion, Rosa Lima, Sahar Mansour, Manfred Meissl, Jan Melek, Mohamad Miqdady, Jorge Hernan Montoya, Carsten Posovszky, Yelena Rachman, Tania Siahanidou, Merit Tabbers, Hans Holm Uhlig, Sevim Ünal, Stefan Wirth, Frank M Ruemmele, Michael W Hess, Lukas A Huber, Thomas Müller, Ekkehard Sturm, Andreas R Janecke
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. Journal of clinical medicine 10 (3) (2021)
Hasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, Anna-Maria Schneider, Malte Cremer, Johannes Adalbert Mayr, Rainer Rossi, Rupert Oberhuber, Andreas R Janecke
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families. Children (Basel, Switzerland) 8 (6) (2021)
Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R Janecke
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy. Molecular genetics & genomic medicine 9 (3) (2021)
Michael W Hess, Iris M Krainer, Przemyslaw A Filipek, Barbara Witting, Karin Gutleben, Ilja Vietor, Heinz Zoller, Denise Aldrian, Ekkehard Sturm, James R Goldenring, Andreas R Janecke, Rupert Oberhuber, Lukas A Huber, Georg-Friedrich Vogel
Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations. Journal of clinical medicine 10 (9) (2021)
Yousra El Ghaleb, Pauline E Schneeberger, Monica L I Fernández-Quintero, Stefanie M Geisler, Simone Pelizzari, Abeltje M Polstra, Johanna M van Hagen, Jonas Denecke, Marta Campiglio, Klaus Roman Liedl, Cathy A Stevens, Richard E Person, Stefan Rentas, Eric D Marsh, Laura K Conlin, Petronel Tuluc, Andreas R Janecke, Bernhard E Flucher
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. Brain : a journal of neurology 144 (7) (2021)
Matthias Baumann, Erin M Beaver, María Palomares-Bralo, Fernando Santos-Simarro, Peter Holzer, Gundula Povysil, Thomas Müller, Taras Valovka, Andreas R Janecke
Further delineation of putative ACTB loss-of-function variants: A 4-patient series. Human mutation 41 (4) (2020)
Georg-Friedrich Vogel, Elisabeth Maurer, Andreas Entenmann, Simon Straub, A S Knisely, Andreas R Janecke, Rupert Oberhuber
Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation. European journal of human genetics : EJHG 28 (6) (2020)
Stephanie Waich, Andreas R Janecke, Walther Parson, Susanne Greber-Platzer, Thomas Müller, Lukas A Huber, Taras Valovka, Julia Vodopiutz
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Clinical genetics 98 (3) (2020)
Katharina M C Klee, Andreas R Janecke, Hasret A Civan, Štefan Rosipal, Peter Heinz-Erian, Lukas A Huber, Thomas Müller, Georg-Friedrich Vogel
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. Human genetics 139 (10) (2020)
Andreas R Janecke, Peter Heinz-Erian, Thomas Müller
Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease. American journal of physiology. Regulatory, integrative and comparative physiology 312 (3) (2019)
Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, Gundula Povysil, Marie T McDonald, Sheila Unger, Susanne Greber-Platzer, Kristen L Deak, Nicholas Katsanis, Andrea Superti-Furga, Kazuyuki Sugahara, Erica E Davis, Shuhei Yamada, Julia Vodopiutz
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Human mutation 41 (3) (2019)
M Baumann, E Steichen-Gersdorf, B Krabichler, T Müller, Andreas R Janecke
A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants. Clinical genetics 92 (1) (2017)
Uschi Lindert, Wayne A Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N Makareeva, Andreas R Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C Marini, Vorasuk Shotelersuk
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature communications 7 (2016)
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner, Andreas R Janecke
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. European journal of human genetics : EJHG 25 (2) (2016)

Andreas R Janecke.css-eqlu8i{font-size:small;padding-left:4px;} (Kerstin Kutsche, A R Janecke)

Publication Activity (10 Years)

Top Topics

Top Venues

Andreas R Janecke (Kerstin Kutsche, A R Janecke)