2021
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Al-Hamed M, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer J, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Human Genetics 2021, 141: 101-126. PMID: 34853893, DOI: 10.1007/s00439-021-02406-9.Peer-Reviewed Original ResearchConceptsChromosomal microarray analysisExome sequencingConsanguineous populationsFetal anomaliesMicroarray analysisHeterozygous de novo pathogenic variantLoss of function variantsFetal phenotypeParental DNA samplesFetal abnormalitiesDiagnostic yieldMolecular genetic defectMolecular genetic diagnosticsHistory of congenital anomaliesPrenatal exome sequencingVariable diagnostic yieldCiliopathy genesFetal structural anomaliesMolecular genetic abnormalitiesStructural anomaliesCiliopathy disordersCiliopathy syndromesFunctional variantsNovel variantsGenetic diagnostics
2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Maddirevula S, Kuwahara H, Ewida N, Shamseldin H, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif H, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya F. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics. Genome Biology 2020, 21: 145. PMID: 32552793, PMCID: PMC7298854, DOI: 10.1186/s13059-020-02053-9.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingMendelian disordersMendelian diseasesRNA-seqDiagnosis of Mendelian diseasesRNA analysisNon-coding variantsSuspected Mendelian diseasesSuspected Mendelian disordersBlood-derived RNARNA-based diagnosticsWhole-transcriptome sequencingIn silico predictionGenome sequenceRT-PCRMendelian phenotypesTranscriptome sequencingRNA sourceResults of RT-PCRModulate penetranceRNASequenceConclusionsOur resultsVariantsGenome