Giridharan Appaswamy
Publications by Year
Research Areas
Blood disorders and treatments, Erythrocyte Function and Pathophysiology, Immunodeficiency and Autoimmune Disorders, Prenatal Screening and Diagnostics, Caveolin-1 and cellular processes
Most-Cited Works
- → HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)(2006)503 cited
- → A Syndrome with Congenital Neutropenia and Mutations inG6PC3(2008)348 cited
- → The phenotype of human STK4 deficiency(2012)322 cited
- → JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia(2014)141 cited
- → HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI(2010)28 cited
- → Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency(2023)9 cited
- → Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis(2013)3 cited
- → Massive parallel sequencing of dried umbilical cord remnants(2020)1 cited
- → Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene(2021)1 cited