2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, Cohen J, Fahrner J, Fatemi A, Harris J, Nowak C, Stevens C, Grand K, Au M, Graham J, Sanchez‐Lara P, Del Campo M, Jones M, Abdul‐Rahman O, Alkuraya F, Bassetti J, Bergstrom K, Bhoj E, Dugan S, Kaplan J, Derar N, Gripp K, Hauser N, Innes A, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk M, Rahbeeni Z, Ben‐Shachar S, Shieh J, Slavotinek A, Sobering A, Abbott M, Allain D, Amlie‐Wolf L, Au P, Bedoukian E, Beek G, Barry J, Berg J, Bernstein J, Cytrynbaum C, Chung B, Donoghue S, Dorrani N, Eaton A, Flores‐Daboub J, Dubbs H, Felix C, Fong C, Fung J, Gangaram B, Goldstein A, Greenberg R, Ha T, Hersh J, Izumi K, Kallish S, Kravets E, Kwok P, Jobling R, Johnson A, Kushner J, Lee B, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod D, Mentch F, Minks K, Muraresku C, Nelson S, Porazzi P, Pichurin P, Powell‐Hamilton N, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand D, Falk M, Hakonarson H, Zackai E, Quintero‐Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. American Journal Of Medical Genetics Part A 2021, 185: 1649-1665. PMID: 33783954, PMCID: PMC8631250, DOI: 10.1002/ajmg.a.62124.Peer-Reviewed Original ResearchConceptsIntellectual disabilityWiedemann-Steiner syndromeGenotype-phenotype correlationDevelopmental trajectoriesDevelopmental milestonesClinician's differential diagnosisAssociated with loss of functionLong-term outcomesDiverse cohortAutosomal dominant disorderEthnically diverse cohortAssociated with lossDevelopmental delayDisabilityMedian ageClinical featuresMonoallelic variantsShort statureDifferential diagnosisPhenotypic spectrumHypertrichosis cubitiIndividualsMedical comorbiditiesDominant disorderFeeding difficulties
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