T. Müller

R. Bale, R. Crazzolara, B. Meister, 2020, International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group.

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

G. Utermann, A. Janecke, T. Müller, 2001, Human Genetics.

Causes of hematochezia and hemorrhagic antibiotic-associated colitis in children and adolescents

C. Mache, A. Deutschmann, E. Leitner, 2017, Medicine.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Copper‐associated liver disease in North Ronaldsay sheep: a possible animal model for non‐Wilsonian hepatic copper toxicosis of infancy and childhood

T. Müller, P. Heinz-Erian, M. Tanner, 2001, The Journal of pathology.

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

A. Peters, M. Rietschel, M. Nöthen, 2017, Gut.

A new, X-linked endothelial corneal dystrophy.

U. Schlötzer-Schrehardt, G. Utermann, A. Janecke, 2006, American journal of ophthalmology.

Copper-induced hepatotoxicosis with hepatic stellate cell activation and severe fibrosis in North Ronaldsay lambs: a model for non-Wilsonian hepatic copper toxicosis of infants.

T. Müller, M. Loughran, M. Tanner, 2004, Journal of comparative pathology.

Non-Indian childhood cirrhosis.

P. Pearson, B. van de Sluis, T. Müller, 1999, European journal of medical research.

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.

A. Zhernakova, C. Wijmenga, E. van Binsbergen, 2003, Journal of hepatology.

Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease

C. Wijmenga, R. Houwen, P. Pearson, 1998, European Journal of Human Genetics.

Idiopathic copper toxicosis.

T. Müller, H. Feichtinger, W. Müller, 1998, The American journal of clinical nutrition.

80 ENDEMIC TYROLEAN INFANTILE CIRRHOSIS

T. Müller, H. Feichtinger, W. Müller, 1996 .

Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder

T. Müller, H. Feichtinger, W. Müller, 1996, The Lancet.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

N. Warner, A. Franke, S. Travis, 2015, Human molecular genetics.

Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Y. Frishberg, S. Waldegger, A. Janecke, 2017, Human mutation.

Severe DGUOK Deficiency in Austria: A Six-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2018, Journal of pediatric gastroenterology and nutrition.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

G. Utermann, A. Janecke, T. Müller, 2009, American journal of human genetics.

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2019, Journal of pediatric gastroenterology and nutrition.

SPINT2 (HAI‐2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI‐2 to inhibit prostasin but not matriptase

V. Wolters, A. Janecke, K. Zimmer, 2018, Human molecular genetics.

Association of TLR7 single nucleotide polymorphisms with chronic HCV‐infection and response to interferon‐a‐based therapy

T. Berg, B. Wiedenmann, H. Witt, 2007, Journal of viral hepatitis.

Nuclear FOXO3 predicts adverse clinical outcome and promotes tumor angiogenesis in neuroblastoma

B. Meister, M. Rupp, J. Hagenbuchner, 2016, Oncotarget.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

F. Santos-Simarro, E. Beaver, G. Povysil, 2020, Human mutation.

Juvenile sarcoidosis presenting as Crohn’s Disease

C. Sergi, T. Müller, F. Prüfer, 2006, European Journal of Pediatrics.

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

F. Offner, A. Janecke, T. Müller, 2004, The Journal of pediatrics.

Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes.

H. Koepsell, L. Huber, M. Tyska, 2018, Gastroenterology.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

C. Wijmenga, V. Siu, F. Rüschendorf, 2009, American journal of human genetics.

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.

C. Wijmenga, R. Houwen, F. Offner, 2000, Gastroenterology.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

W. Schmidt, A. Janecke, T. Müller, 2016, European Journal of Human Genetics.

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.

F. Kronenberg, V. Carlton, R. Margreiter, 2003, The Journal of pediatrics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

H. Clevers, R. Houwen, L. Huber, 2014, Gastroenterology.

Joubert-like syndrome unlinked to known candidate loci.

F. Kronenberg, G. Utermann, A. Janecke, 2004, The Journal of pediatrics.

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

H. Tilg, S. Kiechl, T. Todorov, 2022, Hepatology communications.

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

G. Utermann, A. Janecke, T. Müller, 2001, Journal of medical genetics.

Sensitivity and specificity of the antigen-based anterior nasal self-testing programme for detecting SARS-CoV-2 infection in schools, Austria, March 2021

A. Berghold, J. Zuber, P. Willeit, 2021, Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin.

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

L. Bird, A. Janecke, T. Müller, 2010, Clinical dysmorphology.

FOXO3/FKHRL1 is activated by 5-aza-2-deoxycytidine and induces silenced caspase-8 in neuroblastoma

B. Meister, M. Rupp, J. Hagenbuchner, 2012, Molecular biology of the cell.

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

R. Rossi, A. Janecke, T. Müller, 2021, Children.

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease

A. Janecke, T. Müller, P. Heinz-Erian, 2016, Journal of pediatric gastroenterology and nutrition.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

R. Houwen, P. Coffer, E. Nieuwenhuis, 2018, Gastroenterology.

The SZT2 Interactome Unravels New Functions of the KICSTOR Complex

M. Kwiatkowski, P. Pramstaller, L. Huber, 2021, Cells.

An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking

H. Clevers, H. Begthel, J. van Es, 2015, Proceedings of the National Academy of Sciences.

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

F. Messner, S. Schneeberger, A. Janecke, 2022, Children.

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

A. Janecke, T. Müller, Georg F. Vogel, 2020, European Journal of Human Genetics.

Towards understanding microvillus inclusion disease

L. Huber, A. Janecke, T. Müller, 2016, Molecular and Cellular Pediatrics.

Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model

Y. Révillon, N. Brousse, G. Utermann, 2010, Human mutation.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

Early onset congenital diarrheas; single center experience.

M. Çakır, A. Janecke, T. Müller, 2021, Pediatrics and neonatology.

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study

M. Trauner, P. Ferenci, C. Gabriel, 2012, Journal of Human Genetics.

Disintegration of large gastric lactobezoars by N-acetylcysteine.

B. Meister, C. Salvador, T. Müller, 2010, Journal of pediatric gastroenterology and nutrition.

The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases

C. Lamina, T. Müller, D. Karall, 2021, Acta paediatrica.

Increased Fecal Neopterin Parallels Gastrointestinal Symptoms in COVID-19

H. Tilg, A. Moschen, T. Müller, 2021, Clinical and translational gastroenterology.

Further delineation of SLC9A3 ‐related congenital sodium diarrhea

A. Janecke, T. Müller, P. Heinz-Erian, 2022, Molecular genetics & genomic medicine.

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations

R. Houwen, A. Janecke, T. Müller, 2021, Clinical and translational gastroenterology.

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

L. Huber, A. Janecke, T. Müller, 2020, Human Genetics.

Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease.

A. Janecke, T. Müller, P. Heinz-Erian, 2017, American journal of physiology. Regulatory, integrative and comparative physiology.

Mechanisms Underlying Dysregulation of Electrolyte Absorption in Inflammatory Bowel Disease-Associated Diarrhea.

A. Janecke, T. Müller, P. Heinz-Erian, 2016, Inflammatory bowel diseases.

CTG-21-0250 1..4

R. Houwen, A. Janecke, T. Müller, 2022 .

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

W. Parson, L. Huber, A. Janecke, 2020, Clinical genetics.

A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

A. Janecke, T. Müller, E. Steichen‐Gersdorf, 2017, Clinical genetics.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Epstein-Barr virus-associated Hodgkin's lymphoma and legionella pneumophila infection complicating treatment of juvenile rheumatoid arthritis with methotrexate and cyclosporine A.

F. Allerberger, F. Offner, T. Müller, 2000, Human pathology.

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

A. Janecke, T. Müller, N. Neu, 2008, Journal of pediatric gastroenterology and nutrition.

“Enhanced acquisition of antibiotic-resistant intestinal E. coli during the first year of life assessed in a prospective cohort study”

A. Mellmann, Damia Noce, T. Müller, 2019, Antimicrobial resistance and infection control.

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

A. Janecke, T. Janjic, T. Müller, 2021, Molecular genetics & genomic medicine.

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

F. Alkuraya, A. Viestenz, L. Huber, 2021, Human Genetics.

Low sodium status in cystic fibrosis-as assessed by calculating fractional Na(+) excretion-is associated with decreased growth parameters.

T. Müller, H. Ellemunter, P. Heinz-Erian, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression

A. Janecke, T. Müller, Ç. Arıkan, 2020, JPGN reports.

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

H. M. Geller, W. Gahl, G. Golas, 2016, American journal of medical genetics. Part A.

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

K. Mills, F. Forneris, M. Schmuth, 2017, The Journal of investigative dermatology.

Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.

L. Huber, A. Janecke, T. Müller, 2017, JCI insight.

A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy

T. Müller, C. Has, A. Baican, 2018, The Australasian journal of dermatology.

Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3

L. Huber, A. Janecke, T. Müller, 2015, The Journal of cell biology.

Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction

A. Janecke, T. Müller, H. Zoller, 2022, Gastroenterology report.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

S. Nampoothiri, K. Kutsche, A. Janecke, 2021, Brain : a journal of neurology.

Significance of Molecular Testing for Congenital Chloride Diarrhea

A. Zankl, U. Querfeld, A. Janecke, 2011, Journal of pediatric gastroenterology and nutrition.

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

M. Brown, K. Dahan, P. Danoy, 2010, Human Genetics.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

R. Houwen, P. Coffer, E. Nieuwenhuis, 2018, Gastroenterology.

Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

A. Janecke, T. Müller, J. Baenziger, 2011, Human mutation.