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
2016
Characterizing the morbid genome of ciliopathies
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh M, Alazami A, Hashem M, Ibrahim N, Abdulwahab F, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed M, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih M, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan C, Parry D, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson C, Alkuraya F. Characterizing the morbid genome of ciliopathies. Genome Biology 2016, 17: 242. PMID: 27894351, PMCID: PMC5126998, DOI: 10.1186/s13059-016-1099-5.Peer-Reviewed Original ResearchConceptsCombined carrier frequencyLoss of function mutationsGenetically heterogeneous conditionCiliopathy phenotypesGenomic analysisGenomic approachesCiliary signalingCiliopathy genesNovel allelesFounder mutationMendelian inheritanceCiliopathy spectrumMeckel-Gruber syndromeBardet-Biedl syndromePrimary ciliaThiol isomerasesFunction mutationsMolecular basisCiliopathiesMutation loadMutationsMeckel-GruberAffected individualsGenesVariable expression