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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9.
Genet Med. 2021.
PMID: 34244665
Free PMC article.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
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.
Rasool S, et al. Among authors: baig jm.
Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17.
Mol Genet Genomic Med. 2020.
PMID: 32677750
Free PMC article.
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS.
Kaygusuz E, et al. Among authors: baig jm.
Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.
Clin Genet. 2021.
PMID: 34270086
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Prevention of beta-thalassemia in a large Pakistani family through cascade testing.
Baig SM, Din MA, Hassan H, Azhar A, Baig JM, Aslam M, Anjum I, Farooq M, Hussain MS, Rasool M, Nawaz S, Qureshi JA, Zaman T.
Baig SM, et al. Among authors: baig jm.
Community Genet. 2008;11(1):68-70. doi: 10.1159/000111641. Epub 2008 Jan 15.
Community Genet. 2008.
PMID: 18196920
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Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan.
Baig SM, Azhar A, Hassan H, Baig JM, Aslam M, Ud Din MA, Qureshi JA, Zaman T.
Baig SM, et al. Among authors: baig jm.
Prenat Diagn. 2006 Oct;26(10):903-5. doi: 10.1002/pd.1523.
Prenat Diagn. 2006.
PMID: 16821247
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Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.
Baig SM, Azhar A, Hassan H, Baig JM, Kiyani A, Hameed U, Rabbi F, Bokhari H, Aslam M, Ud Din MA, Baig SA, Hassan K, Qureshi JA, Zaman T.
Baig SM, et al. Among authors: baig jm.
Haematologica. 2006 Mar;91(3):ELT02.
Haematologica. 2006.
PMID: 16533735
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