Surasawadee Ausavarat

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 141 citations · Full text

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery et al. · Molecular Genetics and Metabolism · 2009 · 98 citations · Full text

Pkhd1 Sequence Variations, Hepatology, Mendelian Disorder +9

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri et al. · European Journal of Human Genetics · 2012 · 62 citations · Full text

Genetic Disorder, Genetics, Psychiatric Genetics +5

A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome

Vorasuk Shotelersuk, Pichit Siriwan, Surasawadee Ausavarat · The Cleft Palate-Craniofacial Journal · 2006 · 22 citations

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch et al. · PubMed · 2008 · 15 citations

Mendelian Disorder, Clinical Genetic Disorders, Novel Ebp Mutations +12