Khurram Liaqat

A New Disease Gene for Hypokalemic Periodic Paralysis, KCNA7, Established in a Multigenerational Family

The paper identifies a KCNA7 missense variant as a new disease gene for hypokalemic periodic paralysis through genetic, structural, and electrophysiological analyses in a multigenerational family.

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.