Area of research
Genetics · Nephrology
Research interest
Research interests include Genetics, Biology, Medicine, Intellectual disability, Exome sequencing, and Missense mutation.
Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
#3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp>
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study