Asmat Ullah

Asmat Ullah

Postdoc


Publication year:
All
1 - 10 out of 10Page size: 25
  1. 2023
  2. Published

    A Novel Homozygous Nonsense Variant in the DΥM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

    Bakar, A., Shams, S., Bibi, N., Ullah, Asmat, Ahmad, W., Jelani, M., Muthaffar, O. Y., Abdulkareem, A. A., Abujamel, T. S., Haque, A., Naseer, M. I. & Khan, B., 2023, In: Genes. 14, 14 p., 510.

    Research output: Contribution to journal › Journal article › peer-review

  3. Published

    Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain

    Waheed, N., Naseer, M., Haider, N., Suleman, Sufyan & Ullah, Asmat, 2023, In: Immunogenetics. 75, p. 71-79

    Research output: Contribution to journal › Journal article › peer-review

  4. 2022
  5. Published

    ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

    Bharadwaj, T., Schrauwen, I., Rehman, S., Liaqat, K., Acharya, A., Giese, A. P. J., Nouel-Saied, L. M., Nasir, A., Everard, J. L., Pollock, L. M., Zhu, S., Bamshad, M. J., Nickerson, D. A., Ali, R. H., Ullah, Asmat, Wali, A., Ali, G., Santos-Cortez, R. L. P., Ahmed, Z. M., McDermott, B. M., Ansar, M., Riazuddin, S., Ahmad, W. & Leal, S. M., 2022, In: European Journal of Human Genetics. 30, p. 22-33

    Research output: Contribution to journal › Journal article › peer-review

  6. Published

    A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes

    Bakar, A., Ullah, Asmat, Bibi, N., Khan, H., Rahman, A. U., Ahmad, W. & Khan, B., 2022, In: European Journal of Medical Genetics. 65, 10, 104599.

    Research output: Contribution to journal › Journal article › peer-review

  7. Published

    A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder

    Ullah, Asmat, Krishin, J., Haider, N., Aurangzeb, B., Abdullah, Suleman, Sufyan, Ahmad, W., Hansen, Torben & Basit, S., 2022, In: Neurogenetics. 23, p. 203-212

    Research output: Contribution to journal › Journal article › peer-review

  8. Published

    Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

    Ullah, Asmat, Shah, A. A., Alluqmani, M., Haider, N., Aman, H., Alfadhli, F., Almatrafi, A. M., Albalawi, A. M., Krishin, J., Ullah Khan, F., Anjam, B. A., Abdullah, Peña Lozano, Elionora, Samad, A., Ahmad, W., Hansen, Torben, Xia, K. & Basit, S., 2022, In: International Journal of Developmental Neuroscience. 82, 8, p. 788-804

    Research output: Contribution to journal › Journal article › peer-review

  9. Published

    Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome

    Simaab, A., Krishin, J., Alaradi, S. R., Haider, N., Shah, M., Ullah, Asmat, Abdullah, A., Ahmad, W., Hansen, Torben & Basit, S., 2022, In: Medicina. 58, 12, 9 p., 1784.

    Research output: Contribution to journal › Journal article › peer-review

  10. Published

    Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

    Raza, R., Ullah, Asmat, Haider, N., Krishin, J., Shah, M., Khan, F. U., Abdullah, Hansen, Torben, Raza, S. I., Ahmad, W. & Basit, S., 2022, In: Clinical and Experimental Dermatology. 47, 6, p. 1137-1143

    Research output: Contribution to journal › Journal article › peer-review

  11. Published

    Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families

    Nawal, W., Ullah, Asmat, Ullah, U., Farrakh, K., Ahmad, F., Khan, H., Ahmad, G. S., Khan, B., Ansar, M., Umm-e-Kalsoom & Ahmad, W., 2022, In: Klinische Padiatrie. 234, 3, p. 123-129 7 p.

    Research output: Contribution to journal › Journal article › peer-review

  12. Published

    Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders

    Shah, A. A., Amjad, M., Hassan, J. U., Ullah, Asmat, Mahmood, A., Deng, H., Ali, Y., Gul, F. & Xia, K., 2022, In: Genes. 13, 8, 21 p.

    Research output: Contribution to journal › Journal article › peer-review

ID: 249147337