Area of research
Genetics · Surgery
Research interest
Research interests include BRCA gene mutations in cancer, Testicular diseases and treatments, Genetic factors in colorectal cancer, and Genomic variations and chromosomal abnormalities.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
<i>TUBB4B</i>variants specifically impact ciliary function, causing a ciliopathic spectrum
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis
Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability