All Stories

  1. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

    Article • Anais Brasileiros de Dermatologia, May 2023, Elsevier

    Asmat Ullah

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

    Article • Genes, February 2023, MDPI AG

    Asmat Ullah

  3. Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia

    Article • Medicina, February 2023, MDPI AG

    Asmat Ullah

  4. Identification of a Novel Nonsense Variant in the <b><i>DLL3</i></b> Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

    Article • Molecular Syndromology, January 2023, Karger Publishers

    Asmat Ullah

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

    Article • Medicina, December 2022, MDPI AG

    Asmat Ullah

  6. Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON...

    Article • International Journal of Developmental Neuroscience, October 2022, Wiley

    Asmat Ullah

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

    Article • Immunogenetics, October 2022, Springer Science + Business Media

    Asmat Ullah

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

    Article • European Journal of Medical Genetics, October 2022, Elsevier

    Asmat Ullah

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

    Article • Genes, July 2022, MDPI AG

    Asmat Ullah

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

    Article • Clinical and Experimental Dermatology, June 2022, Oxford University Press (OUP)

    Asmat Ullah

  11. A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder

    Article • Neurogenetics, April 2022, Springer Science + Business Media

    Asmat Ullah

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

    Article • Klinische Pädiatrie, September 2021, Thieme Publishing Group

    Asmat Ullah

  13. Association of endothelial nitric oxide synthase gene variants with preeclampsia

    Article • Reproductive Health, July 2021, Springer Science + Business Media

    Asmat Ullah

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

    Article • European Journal of Human Genetics, June 2021, Springer Science + Business Media

    Asmat Ullah

  15. Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco

    Article • Klinische Pädiatrie, April 2021, Thieme Publishing Group

    Asmat Ullah

  16. Whole Exome Sequencing Revealed a Novel Sequence Variant in The OTULIN Underlying Auto-Inflammatory Syndrome

    Article • February 2021, Research Square

    Asmat Ullah

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

    Article • Molecular Biology Reports, September 2020, Springer Science + Business Media

    Asmat Ullah

  18. Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation

    Article • Genetic Testing and Molecular Biomarkers, September 2020, Mary Ann Liebert Inc

    Asmat Ullah

  19. Clinical and genetic characterization of congenital lipoid adrenal hyperplasia

    Article • Clinical Dysmorphology, August 2020, Wolters Kluwer Health

    Asmat Ullah

  20. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families

    Article • European Journal of Dermatology, August 2020, John Libbey Eurotext

    Asmat Ullah

  21. Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism

    Article • Frontiers in Genetics, July 2020, Frontiers

    Asmat Ullah

  22. Sequence variants in three genes underlying leukodystrophy in Pakistani families

    Article • International Journal of Developmental Neuroscience, June 2020, Wiley

    Asmat Ullah

  23. A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family

    Article • Clinical Dysmorphology, January 2020, Wolters Kluwer Health

    Asmat Ullah

  24. Screening, diagnosis and genetic study of breast cancer patients in Pakistan

    Article • Pakistan Journal of Medical Sciences, December 2019, Pakistan Journal of Medical Sciences

    Asmat Ullah

  25. Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

    Article • BMC Medical Genetics, December 2019, Springer Science + Business Media

    Asmat Ullah

  26. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

    Article • Congenital Anomalies, October 2019, Wiley

    Asmat Ullah

  27. Variants inGLI3Cause Greig Cephalopolysyndactyly Syndrome

    Article • Genetic Testing and Molecular Biomarkers, October 2019, Mary Ann Liebert Inc

    Asmat Ullah

  28. Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report

    Article • BMC Medical Genetics, September 2019, Springer Science + Business Media

    Asmat Ullah

  29. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly

    Article • European Journal of Medical Genetics, August 2019, Elsevier

    Asmat Ullah

  30. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

    Article • Annals of Human Genetics, June 2019, Wiley

    Asmat Ullah

  31. A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction

    Article • European Journal of Medical Genetics, April 2019, Elsevier

    Asmat Ullah

  32. A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

    Article • Clinical Genetics, January 2019, Wiley

    Muhammad Umair, Asmat Ullah

  33. Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity

    Article • BMC Medical Genetics, November 2018, Springer Science + Business Media

    Asmat Ullah

  34. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

    Article • Journal of Bone and Mineral Research, November 2018, Wiley

    Asmat Ullah

  35. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

    Article • Human Genetics, July 2018, Springer Science + Business Media

    Asmat Ullah

  36. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III

    Article • Pediatrics International, February 2018, Wiley

    Asmat Ullah

  37. First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation

    Article • Clinical Genetics, January 2018, Wiley

    Dr Sulman Basit, Asmat Ullah

  38. Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

    Article • Genetics and Molecular Biology, January 2018, FapUNIFESP (SciELO)

    Asmat Ullah

  39. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type

    Article • Annals of Human Genetics, January 2018, Wiley

    Asmat Ullah

  40. Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes

    Article • Congenital Anomalies, December 2017, Wiley

    Asmat Ullah, Mr Sher Alam Khan

  41. Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

    Article • Journal of Genetics, December 2017, Springer Science + Business Media

    Asmat Ullah

  42. Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny

    Article • Journal of Human Genetics, November 2017, Springer Science + Business Media

    Asmat Ullah

  43. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

    Article • Human Molecular Genetics, August 2017, Oxford University Press (OUP)

    Asmat Ullah

  44. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

    Article • Pediatric Research, July 2017, Springer Science + Business Media

    Asmat Ullah

  45. Novel homozygous sequence variants in theGDF5gene underlie acromesomelic dysplasia type-grebe in consanguineous families

    Article • Congenital Anomalies, March 2017, Wiley

    Asmat Ullah

  46. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome

    Article • Ophthalmic Genetics, January 2017, Taylor & Francis

    Asmat Ullah

  47. A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1

    Article • Molecular Syndromology, December 2016, Karger Publishers

    Asmat Ullah

  48. Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1

    Article • Pediatrics International, December 2016, Wiley

    Asmat Ullah

  49. Exome sequencing revealed a novel splice site variant in theALX1gene underlying frontonasal dysplasia

    Article • Clinical Genetics, July 2016, Wiley

    Asmat Ullah

  50. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

    Article • Journal of the European Academy of Dermatology and Venereology, December 2015, Wiley

    Asmat Ullah

  51. A novel deletion mutation in theDSG4gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families

    Article • Clinical and Experimental Dermatology, September 2014, Wiley

    Asmat Ullah