Publications
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet 64, 153-160 (2019).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet 137, 471-478 (2018).