Publications by authors named "Sulman Basit"

77Publications

First evidence of involvement of TBC1D25 in causing human male infertility.

Eur J Med Genet 2021 Jan 15;64(2):104142. Epub 2021 Jan 15.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. Electronic address:

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January 2021

Whole exome sequencing identifies a novel FANCD2 gene splice site mutation associated with disease progression in chronic myeloid leukemia: Implication in targeted therapy of advanced phase CML.

Pak J Pharm Sci 2020 May;33(3(Special)):1419-1426

Cancer and Medical Genetics, CAMS-A, King Saud Bin Abdulaziz University for Health Sciences & King Abdullah International Medical Research Centre (KAIMRC), King Abdulaziz Medical City, National Guard Health Affairs, Al Ahsa, Saudi Arabia.

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May 2020

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Mol Biol Rep 2020 Sep 4;47(9):7083-7088. Epub 2020 Sep 4.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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September 2020

A novel missense variant in the gene in patients with moderate to severe bleeding disorder.

Platelets 2020 Jul 5;31(5):646-651. Epub 2019 Sep 5.

Center for Genetics and Inherited Diseases, Taibah University Medina, Almadinah Almunawwarah , Saudi Arabia.

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July 2020

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Brain Dev 2020 Sep 10;42(8):587-593. Epub 2020 May 10.

Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Saudi Arabia. Electronic address:

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September 2020

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Saudi J Ophthalmol 2019 Oct-Dec;33(4):326-331. Epub 2019 Sep 18.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia.

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September 2019

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives.

Appl Clin Genet 2019 24;12:249-260. Epub 2019 Dec 24.

Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarrah, Peshawar, Saudi Arabia.

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December 2019

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.

J Nephrol 2020 Aug 7;33(4):763-769. Epub 2020 Jan 7.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

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August 2020

Novel homozygous loss-of-function mutations in and genes in retinitis pigmentosa patients.

Ophthalmic Genet 2019 12 13;40(6):507-513. Epub 2019 Dec 13.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Saudi Arabia.

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December 2019

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.

Sci Rep 2019 11 11;9(1):16469. Epub 2019 Nov 11.

Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

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November 2019

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.

Congenit Anom (Kyoto) 2020 Jul 29;60(4):115-119. Epub 2019 Oct 29.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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July 2020

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

J Dermatol Sci 2019 Sep 9;95(3):113-118. Epub 2019 Aug 9.

Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, 87100, Quetta, Pakistan. Electronic address:

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September 2019