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J. Vodopiutz · SciRah

Researcher profile · Semantic Scholar

J. Vodopiutz

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J. Vodopiutz — researcher profile on SciRah

h-index: 18
Works: 44
Citations: 1,340

Most-cited papers

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Munis Dündar, T. Müller, Qi Zhang, Jing Pan +9 more
2009American Journal of Human Genetics141 citations Open access
Semantic Scholar
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
E. Jansen, S. Timal, M. Ryan, A. Ashikov +29 more
2016Nature Communications137 citations Open access
Semantic Scholar
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
M. Schmidts, J. Vodopiutz, S. Christou-Savina, Claudio R. Cortés +30 more
2013American Journal of Human Genetics125 citations Open access
Semantic Scholar
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
A. Janecke, P. Heinz-Erian, Jian-Yi Yin, B. Petersen +29 more
2015Human Molecular Genetics120 citations Open access
Semantic Scholar
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
M. Steenweg, C. Jakobs, A. Errami, S. V. van Dooren +47 more
2010Human Mutation120 citations Open access
Semantic Scholar
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
T. Müller, Insha Rasool, P. Heinz-Erian, E. Mildenberger +14 more
2015Gut88 citations Open access
Semantic Scholar
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
T. Müller, S. Mizumoto, I. Suresh, Yoshie Komatsu +9 more
2013Human Molecular Genetics85 citations
Semantic Scholar
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
A. McInerney-Leo, J. Harris, P. Leo, M. Marshall +10 more
2015Clinical Genetics53 citations
Semantic Scholar
WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
J. Vodopiutz, R. Seidl, D. Prayer, M. Khan +19 more
2015Human Mutation50 citations Open access
Semantic Scholar
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
I. Diets, R. van der Donk, Kristina Baltrunaite, E. Waanders +34 more
2019American Journal of Human Genetics46 citations Open access
Semantic Scholar
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
E. Morava, J. Vodopiutz, D. Lefeber, A. Janecke +12 more
2012Pediatrics45 citations
Semantic Scholar
Chest Pain in Hospitalized Patients: Cause-Specific and Gender-Specific Differences
J. Vodopiutz, Sabine Poller, B. Schneider, J. Lalouschek +2 more
2002Journal of Women's Health34 citations
Semantic Scholar
SPINT2 (HAI‐2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI‐2 to inhibit prostasin but not matriptase
Lasse Holt-Danborg, J. Vodopiutz, Annika W. Nonboe, J. de Laffolie +11 more
2018Human Molecular Genetics32 citations Open access
Semantic Scholar
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic +9 more
2015Human Mutation30 citations Open access
Semantic Scholar
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome
J. Vodopiutz, H. Zoller, A. Fenwick, R. Arnhold +8 more
2013Jornal de Pediatria28 citations Open access
Semantic Scholar
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy
J. Vodopiutz, M. Schmook, V. Konstantopoulou, B. Plecko +4 more
2014European Journal of Pediatrics24 citations Open access
Semantic Scholar
Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity
J. Vodopiutz, S. Mizumoto, E. Lausch, A. Rossi +13 more
2017Human Mutation21 citations Open access
Semantic Scholar
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
H. Oppermann, Elia Marcos-Grañeda, L. A. Weiss, C. Gurnett +51 more
2023European Journal of Human Genetics19 citations Open access
Semantic Scholar
Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis
Benedikt Weber, A. Schwabegger, J. Vodopiutz, A. Janecke +2 more
2009Fetal Diagnosis and Therapy18 citations
Semantic Scholar
Human Mutation
S. Mizumoto, A. Janecke, A. Sadeghpour, G. Povysil +12 more
202016 citations
Semantic Scholar
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
C. Item, I. Mihalek, Oliver Lichtarge, A. Jalan +3 more
2007Molecular Genetics and Metabolism16 citations
Semantic Scholar
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
S. Waich, A. Roscher, M. Brunner‐Krainz, G. Cortina +8 more
2019Journal of Pediatric Gastroenterology and Nutrition - JPGN15 citations Open access
Semantic Scholar
Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
M. Panzer, A. Viveiros, B. Schaefer, N. Baumgartner +23 more
2022Hepatology Communications14 citations Open access
Semantic Scholar
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study
Silvio Boero, J. Vodopiutz, M. Maghnie, J. D. de Bergua +13 more
2024Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug‐resistant epilepsy in childhood
M. Breu, Chiara Häfele, Petra Trimmel-Schwahofer, W. Schmidt +4 more
2021Epilepsia11 citations Open access
Semantic Scholar
Characteristic immune cell interactions in livers of children with acute hepatitis revealed by spatial single-cell analysis identify a possible postacute sequel of COVID-19
Felix Röttele, A. Zollner, Carolin Mogler, Muhammed Yuksel +26 more
2025Gut5 citations Open access
Semantic Scholar
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Jil D. Stegmann, Jeshurun C. Kalanithy, G. Dworschak, Nina Ishorst +67 more
2024npj Genomic Medicine5 citations Open access
Semantic Scholar
Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant
J. Vodopiutz, L. Steurer, Florentina Haufler, F. Laccone +4 more
2023Genes5 citations Open access
Semantic Scholar
Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management
Nina-Katharina Walleczek, K. Förster, M. Seyr, Nadja Kadrnoska +3 more
2021Wiener Medizinische Wochenschrift5 citations Open access
Semantic Scholar
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity
G. Vogel, Alexandra Podpeskar, D. Rieder, Helin Salzer +14 more
2024Clinical Genetics4 citations Open access
Semantic Scholar
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria
S. Waich, A. Janecke, W. Parson, S. Greber-Platzer +4 more
2020Clinical Genetics4 citations Open access
Semantic Scholar
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
S. Siegert, Gabriel T. Mindler, C. Brücke, A. Kranzl +4 more
2021Genes3 citations Open access
Semantic Scholar
An unusual presentation of incontinentia pigmenti
Jannina Sigl, J. Vodopiutz, A. Tanew, S. Radakovic
2019Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG3 citations Open access
Semantic Scholar
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic +9 more
20153 citations Open access
Semantic Scholar
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family
M. Ritter, J. Vodopiutz, S. Lechner, E. Moser +2 more
2012British Journal of Ophthalmology3 citations
Semantic Scholar
Fetal Hydrops in Combination with Gonadoblastoid Testicular DysplasiaMay Represent a Lethal Type of Noonan Syndrome
Theresa Reischer, M. Schmid, Sukirthini Balendran, M. Nistal +5 more
20172 citations Open access
Semantic Scholar
Altered chaperone–nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome
S. Waich, K. Kreidl, J. Vodopiutz, A. Demir +14 more
2025JCI Insight1 citations Open access
Semantic Scholar
Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia
Dorothea Stojanovic, Dorota Garczarczyk-Asim, J. Vodopiutz, A. Janecke
2026Clinical Genetics0 citations Open access
Semantic Scholar
Loss of the human BRIP1 C terminus does not cause Fanconi anemia.
A. Droste, A. Sobeck, Jost Knaup, Isabell Popp +16 more
2026American Journal of Human Genetics0 citations Open access
Semantic Scholar
Case Report of a Cervical Spinal Stenosis in an Infant with POC1A gene associated SOFT Syndrome
T. Kainz, A. Berger, J. Vodopiutz, L-M Steurer-Vormittag +1 more
2026Zeitschrift für Geburtshilfe und Neonatologie0 citations
Semantic Scholar
FUNCTIONAL ANALYSIS OF NON-CANONICAL FANCJ VARIANTS IN FANCONI ANEMIA
A. Droste, Anna Repczyńska, I. Popp, B. Fiebig +8 more
2025EJC Paediatric Oncology0 citations Open access
Semantic Scholar
MUW researcher of the month
J. Vodopiutz
2018Wiener Klinische Wochenschrift0 citations
Semantic Scholar
Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome
J. Vodopiutz, H. Zoller, A. Fenwick, R. Arnhold +8 more
20130 citations
Semantic Scholar
Homozygous SALL1 mutation causes lethal Townes-Brocks syndrome, CNS defects and severe retardation
J. Vodopiutz, M. Schmid, A. L. Fenwicks, D. Prayer +5 more
20110 citations
Semantic Scholar

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