Search Results for: ahmad baig

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Mol Genet Genomics, Publications

Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN, Liu C.

Mol Genet Genomics. 2022 Aug 24. doi: 10.1007/s00438-022-01945-8.

https://pubmed.ncbi.nlm.nih.gov/36002593/

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes. Read More »

A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family

Genes, Publications

Ramzan S, Tennstedt S, Tariq M, Khan S, Ul Ayan HN, Ali A, Munz M,  Thiele H, Korejo AA, Mughal AR, Jamal SZ, Nürnberg P, Baig SM, Erdmann J, Ahmad I.

Genes 2021, 12(8), 1282

https://doi.org/10.3390/genes12081282

A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family Read More »

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Mol Genet Genomic Med, Publications

Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.

Mol Genet Genomic Med. 2020 Jul 17:e1408. doi: 10.1002/mgg3.1408.

https://pubmed.ncbi.nlm.nih.gov/32677750/

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Read More »

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