All Stories

  1. Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families

    Article • Clinical Genetics, December 2024, Wiley

    Asmat Ullah

  2. Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations

    Article • Molecular Biology Reports, April 2024, Springer Science + Business Media

    Asmat Ullah

  3. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

    Article • Heliyon, January 2024, Elsevier

    Dr. Sher Alam Khan, Asmat Ullah

  4. Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes

    Article • Clinical Genetics, October 2023, Wiley

    Asmat Ullah

  5. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia

    Article • The Journal of Gene Medicine, September 2023, Wiley

    Asmat Ullah

  6. Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

    Article • Frontiers in Genetics, September 2023, Frontiers

    Asmat Ullah

  7. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

    Article • European Journal of Human Genetics, September 2023, Springer Science + Business Media

    Asmat Ullah

  8. Genetics of Plasma Bilirubin and Associations between Bilirubin and Cardiometabolic Risk Profiles in Danish Children and Adolescents

    Article • Antioxidants, August 2023, MDPI AG

    Asmat Ullah

  9. c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms

    Article • Pakistan Journal of Medical Sciences, May 2023, Pakistan Journal of Medical Sciences

    Asmat Ullah

  10. 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

  11. Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

    Article • Frontiers in Genetics, April 2023, Frontiers

    Asmat Ullah

  12. 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

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

    Article • Medicina, February 2023, MDPI AG

    Asmat Ullah

  14. 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

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

    Article • Medicina, December 2022, MDPI AG

    Asmat Ullah

  16. 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

  17. 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

  18. 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

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

    Article • Genes, July 2022, MDPI AG

    Asmat Ullah

  20. 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

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

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

    Asmat Ullah

  22. 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

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

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

    Asmat Ullah

  24. 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

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

    Article • Klinische Pädiatrie, May 2021, Thieme Publishing Group

    Asmat Ullah

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

    Article • Klinische Pädiatrie, April 2021, Thieme Publishing Group

    Asmat Ullah

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

    Article • February 2021, Research Square

    Asmat Ullah

  28. 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

  29. 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

  30. Clinical and genetic characterization of congenital lipoid adrenal hyperplasia

    Article • Clinical Dysmorphology, August 2020, Wolters Kluwer Health

    Asmat Ullah

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

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

    Asmat Ullah, Dr. Sher Alam Khan

  32. 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

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

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

    Asmat Ullah

  34. 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

  35. 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

  36. 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

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

    Article • Congenital Anomalies, October 2019, Wiley

    Asmat Ullah

  38. Variants inGLI3Cause Greig Cephalopolysyndactyly Syndrome

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

    Asmat Ullah

  39. 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

  40. 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

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

    Article • Annals of Human Genetics, June 2019, Wiley

    Asmat Ullah

  42. 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

  43. 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

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

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

    Asmat Ullah

  45. 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

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

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

    Asmat Ullah

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

    Article • Pediatrics International, February 2018, Wiley

    Asmat Ullah

  48. 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

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

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

    Asmat Ullah

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

    Article • Annals of Human Genetics, January 2018, Wiley

    Asmat Ullah

  51. 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, Dr. Sher Alam Khan

  52. 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

  53. 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

  54. 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

  55. 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

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

    Article • Congenital Anomalies, March 2017, Wiley

    Asmat Ullah

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

    Article • Ophthalmic Genetics, January 2017, Taylor & Francis

    Asmat Ullah

  58. Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families

    Article • TURKISH JOURNAL OF BIOLOGY, January 2017, The Scientific and Technological Research Council of Turkey

    khadim shah, Asmat Ullah

  59. 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

  60. 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

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

    Article • Clinical Genetics, July 2016, Wiley

    Asmat Ullah

  62. 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

  63. 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