2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotypeA Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 1-7. DOI: 10.1159/000539279.Peer-Reviewed Original ResearchHomozygous missense variantWhole-exome sequencingHereditary limb malformationsSonic hedgehog pathwayAutosomal recessive mannerSequence variantsMissense variantsProtein foldingIsolated postaxial polydactylyExome sequencingSegregation analysisNovel variantsConsanguineous familySanger sequencingSMO genesExtra digitsHomology modelingCellular differentiationHedgehog pathwayRecessive mannerEmbryonic cellsPostaxial polydactylySequencePreaxial polydactylyVariants
2023
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
Ali A, Abdullah, Bilal M, Mis E, Lakhani S, Ahmad W, Ullah I. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Molecular Biology Reports 2023, 50: 9963-9970. PMID: 37897612, DOI: 10.1007/s11033-023-08816-4.Peer-Reviewed Original ResearchConceptsUnique inheritance patternConsanguineous familyPakistani consanguineous familyMKK genesDifferent genesBBS7 geneBardet-Biedl syndromeWhole-exome sequencingRod-cone dystrophyBBS genesGenesCompound heterozygous variantsNovel homozygous variantHeterogeneous congenital disorderInheritance patternRelated phenotypesExome sequencingClinical manifestationsMutational screeningRenal abnormalitiesMutation spectrumCognitive impairmentHeterozygous variantsPakistani populationHomozygous variant