Pim Suwannarat
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, BRCA gene mutations in cancer, Ethics in Clinical Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas(2013)319 cited
- → A 3-year randomized therapeutic trial of nitisinone in alkaptonuria(2011)202 cited
- → Use of nitisinone in patients with alkaptonuria(2005)162 cited
- → Mouse screen reveals multiple new genes underlying mouse and human hearing loss(2019)120 cited
- → The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes(2013)104 cited
- → Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria(2009)83 cited
- → Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome(2021)68 cited
- → Aortic stenosis and vascular calcifications in alkaptonuria(2011)56 cited
- Musculoskeletal findings and disability in alkaptonuria.(2006)
- → Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans(2021)46 cited