Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variantsChunyu Liu, Tahir Naeem Khan, Sughra Wahid et al.|BMC Medical Genomics|2021Cited by 6
A homozygous missense variant in YTHDC2 induces azoospermia in two siblingsShixiong Tian, Chunyu Liu, Muhammad Faheem et al.|Molecular Genetics and Genomics|2024Cited by 4
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genesAyaz Khan, Chunyu Liu, Muhammad Tariq et al.|Molecular Genetics and Genomics|2022Cited by 4
A recurrent rare intronic variant in <scp><i>CAPN3</i></scp> alters <scp>mRNA</scp> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigreesKamal Khan, Tahir Naeem Khan, Sarmad Mehmood et al.|American Journal of Medical Genetics Part A|2021Cited by 4
Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELNTehseen Ullah Khan Afridi, Tahir Naeem Khan, Ambrin Fatima et al.|Molecular Genetics and Genomics|2024Cited by 3