J. Vodopiutz

发表

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Richard D Emes, M. Hurles, M. Brown, 2013, American journal of human genetics.

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

D. Prayer, A. Wilkie, A. Janecke, 2013, The Journal of pediatrics.

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

A. Janecke, T. Müller, J. Zschocke, 2013, Human molecular genetics.

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

A. Franke, L. Michaud, A. Janecke, 2015, Gut.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Severe Speech Delay as the Presenting Symptom of Guanidinoacetate Methyltransferase Deficiency

O. Bodamer, M. Häusler, J. Vodopiutz, 2007, Journal of child neurology.

Congenital disorders of glycosylation—a challenging group of IEMs

O. Bodamer, J. Vodopiutz, Olaf Bodamer, 2008, Journal of Inherited Metabolic Disease.

Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

A. Janecke, S. Ikegawa, T. Müller, 2017, Human mutation.

Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management

J. Vodopiutz, Nina-Katharina Walleczek, K. Förster, 2021, Wiener Medizinische Wochenschrift.

MUW researcher of the month

J. Vodopiutz, 2018, Wiener klinische Wochenschrift.

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

E. Watrin, K. Wendt, D. Braunholz, 2015, Human mutation.

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

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

Fetal Hydrops in Combination with Gonadoblastoid Testicular DysplasiaMay Represent a Lethal Type of Noonan Syndrome

N. Popitsch, M. Nistal, B. Streubel, 2017 .

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

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

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.

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies

M. Brown, M. Marshall, B. Gardiner, 2015, Clinical genetics.

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

A. Schwabegger, A. Janecke, R. Forstner, 2009, Fetal Diagnosis and Therapy.

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

N. Katsanis, M. McDonald, G. Povysil, 2019, Human mutation.

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

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

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

A. Janecke, B. Plecko, R. Seidl, 2014, European Journal of Pediatrics.

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.

I. Mihalek, O. Bodamer, J. Vodopiutz, 2007, Molecular genetics and metabolism.

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

I. Mihalek, R. Wevers, Z. H. Zhang, 2012, Pediatrics.

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

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

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

C. Brücke, S. Siegert, A. Kranzl, 2021, Genes.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

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

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

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

A. Janecke, J. Vodopiutz, F. Laccone, 2023, Genes.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family

U. Schmidt-Erfurth, A. Janecke, J. Vodopiutz, 2012, British Journal of Ophthalmology.

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug‐resistant epilepsy in childhood

W. Schmidt, A. Dressler, C. Male, 2021, Epilepsia.

Chest pain in hospitalized patients: cause-specific and gender-specific differences.

F. Menz, J. Vodopiutz, C. Stöllberger, 2002, Journal of women's health.

An unusual presentation of incontinentia pigmenti

J. Vodopiutz, Jannina Sigl, A. Tanew, 2019, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.