Thomas Schwarzbraun

Medical University of Graz — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index1.3kcitations32works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(12), Genetics and Neurodevelopmental Disorders(6), Genomics and Chromatin Dynamics(4), Autism Spectrum Disorder Research(3), Prenatal Screening and Diagnostics(3)

Publications32 total

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
Scientific Reports·2021· 9 citedOpen Access
SA46THE EFFECTS OF PROBIOTICS ON GENE EXPRESSION AND COGNITIVE FUNCTION IN DEPRESSIVE PATIENTS
European Neuropsychopharmacology·2019· 1 cited
SA82GENE EXPRESSION OF EUKARYOTIC INITIATION FACTORS UPON PROBIOTIC ADMINISTRATION IN DEPRESSIVE PATIENTS
European Neuropsychopharmacology·2019
Models for congenital generalized lipodystrophy, type 1 and type 2 (CGL1, CGL2) in Drosophila: functional analysis of BSCL2 and AGPAT2 / eingereicht von Thomas Schwarzbraun
2017
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
Neurogenetics·2014· 113 cited
Re‐alignment‐procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes
Orthopaedic Surgery·2013· 5 citedOpen Access
Fatal EBV Infection and Variable Clinical Manifestations in an XLP-1 Pedigree – Rapid Diagnosis of Primary Immunodeficiencies may Save Lives
Klinische Pädiatrie·2012· 6 cited
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome
American Journal of Medical Genetics Part A·2011· 38 cited
Combined Molecular Genetic and Cytogenetic Analysis from Single Cells after Isothermal Whole-Genome Amplification
Clinical Chemistry·2011· 36 citedOpen Access
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation
European Journal of Paediatric Neurology·2011· 24 cited
Androgen receptor expression in breast cancer patients tested for <i>BRCA1</i> and <i>BRCA2</i> mutations
Histopathology·2010· 31 cited
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions
American Journal of Medical Genetics Part A·2010· 13 cited
Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes
Journal of Cellular and Molecular Medicine·2010· 12 citedOpen Access
Altered bone matrix mineralization in a patient with Rett syndrome
Bone·2010· 12 cited
Expression von Androgenrezeptoren bei Mammakarzinomen von Patientinnen nach BRCA1- und BRCA2-Mutations-Testung
Geburtshilfe und Frauenheilkunde·2010
The G-protein Coupled Receptor Associated Sorting Protein GASP-1 Regulates the Signalling and Trafficking of the Viral Chemokine Receptor US28
Traffic·2010· 26 citedOpen Access
The G protein-coupled receptor associated sorting protein GASP-1 regulates the signaling and trafficking of the viral chemokine receptor US28
Traffic·2010· 6 cited
Sporadic gastric Peutz‐Jeghers polyp with intraepithelial neoplasia
Apmis·2009· 15 cited
Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing
Journal of Medical Genetics·2009· 74 citedOpen Access
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
European Journal of Human Genetics·2009· 19 citedOpen Access
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Frequent Co-authors

Erwin Petek(13), Christian Windpassinger(10), Klaus Wagner(8), Michael R. Speicher(6), Lisa Ofner(6), Peter M. Kroisel(6), Jochen B. Geigl(5), John B. Vincent(5), Anna C. Obenauf(4), Abdul Noor(4), Katharina M. Roetzer(4), Stephen W. Scherer(4), Wolfgang N. Löscher(2), PM Kroisel(2), Barbara Plecko(2), Martina Auer(2), Peter Ulz(2), Gunda Pristauz(2), Edgar Petru(2), Elvira Stacher(2)