Area of research
Genetics · Oncology
Research interest
Research interests include Medicine, Biology, Genetics, Phenotype, Cell biology, and Nosology.
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
Nosology of genetic skeletal disorders: 2023 revision
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Nosology and classification of genetic skeletal disorders: 2019 revision
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Nosology and classification of genetic skeletal disorders: 2015 revision
Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci
Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the <i>PORCN</i> gene (c.1250T>C:p.F417S) and unusual spinal anomaly
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and <i>WISP3</i> mutations in 63 affected individuals