ArticleAmerican journal of human genetics2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 144 papers, 1 of them a synthesis that pooled it.
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144citing papers in PubMed, 1 pooled it
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Who cites it
144 citing papers in PubMed, 1 synthesis or guideline pooled it, 279 citations in OpenAlex.
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- Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.Genome biology · 2020Trial
- Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.Human genetics · 2020Trial
- Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.Molecular psychiatry · 2026Article
- Association between consanguinity and neurological and developmental disorders in pediatric patients: A retrospective cohort study in Jazan, Saudi Arabia.World journal of clinical pediatrics · 2026Article
- Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1.Muscle & nerve · 2026Review
- Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Brain : a journal of neurology · 2026Article
- RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Small-molecule inhibitor of Gαo for GNAO1 encephalopathy.Bioscience reports · 2026Article
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026Article
- Heimler Syndrome Caused by NovelGenes · 2026Article
- Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.Human genome variation · 2026Article
- Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.Journal of human genetics · 2026Article
- Building genomic medicine in Saudi Arabia.Nature genetics · 2026Article
- Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (Journal of clinical & translational endocrinology · 2026Article
- Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.Journal of the Endocrine Society · 2026Article
- Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center.Frontiers in immunology · 2026Article
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.NPJ genomic medicine · 2025Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
117 authors at 19 institutions in 3 countries.
Dorota MoniesDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mohammed AbouelhodaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mirna AssoumSaudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Nabil MoghrabiDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Rafiullah RafiullahSaudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Naif AlmontashiriClinical Molecular and Biochemical Genetics, Taibah University, Madinah 42353, Saudi Arabia.
Mohammed AlowainDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hamad AlzaidanDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Moeen AlsayedDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Shazia SubhaniDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Edward CuplerNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Maha FadenGenetics and Metabolism, King Saud Medical Complex, Riyadh 12746, Saudi Arabia.
Amal AlhashemPediatrics Department, Prince Sultan Military Medical Complex, Riyadh 12233, Saudi Arabia.
Alya QariDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Aziza ChedrawiNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Hisham AldhalaanNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Wesam KurdiObstetrics and Gynecology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Sameena KhanNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Zuhair RahbeeniDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Maha AlotaibiGenetics and Metabolism, King Saud Medical Complex, Riyadh 12746, Saudi Arabia.
Ewa GoljanDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hadeel ElbardisySaudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mohamed ElKaliobySaudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Zeeshan ShahDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hibah AlruwailiDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Amal JaafarDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ranad AlbarSaudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.
Asma AkilanSaudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hamsa TayebDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Asma TahirDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mohammed FawzyDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mohammed NasrDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Shaza MakkiSaudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Abdullah AlfaifiPediatrics Department, Security Forces Hospital, Riyadh 11481, Saudi Arabia.
Hanna AklehAcademic and Training Affairs, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Suad YamaniNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Dalal BubshaitPediatrics Department, King Fahad Hospital of the University, Al-Khobar 31952, Saudi Arabia.
Mohammed MahnashiGenetics and Medicine, King Fahd Central Hospital, Gizan 82666, Saudi Arabia.
Talal BashaPediatrics Department, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Afaf AlsagheirPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Musad Abu KhaledNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Khalid AlsaleemPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Maisoon AlmugbelObstetrics and Gynecology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Manal BadawiNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Fahad BashiriDepartment of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh 11461, Saudi Arabia.
Saeed BohlegaNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Raashida SulaimanDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ehab TousNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Syed AhmedPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Talal AlgoufiPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hamoud Al-MousaAllergy - Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Emadia AlakiAllergy - Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Susan AlhumaidiPediatrics Department, King Saud Medical City, Riyadh 12746, Saudi Arabia.
Hadeel AlghamdiPediatrics Department, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Malak AlghamdiPediatrics Department, King Saud Medical City, Riyadh 12746, Saudi Arabia.
Ahmed SahlyPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Shapar NahrirPediatrics Department, King Saud Medical City, Riyadh 12746, Saudi Arabia.
Ali Al-AhmariPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
Hisham AlkurayaVitreoretinal Surgery, Specialized Medical Centre, Riyadh 11564, Saudi Arabia.
Ali AlmehaidibGastroenterology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mohammed AbanemaiGastroenterology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Fahad AlsohaibainiGastroenterology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Bandar AlsaudAllergy - Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Rand ArnaoutAllergy - Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ghada M H Abdel-SalamDepartment of Clinical Genetics, National Research Centre, Cairo 12622, Egypt.
Hasan AldhekriPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Suzan AlKhaterPediatrics Department, King Fahad Hospital of the University, Al-Khobar 31952, Saudi Arabia; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 34221, Saudi Arabia.
Khalid AlqadiNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Essam AlsabbanPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Turki AlshareefPediatric Nephrology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Khalid AwartaniObstetrics and Gynecology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hanaa BanjarPediatric Pulmonology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Nada AlsahanObstetrics and Gynecology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ibraheem AbosoudahPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Abdullah AlashwalPediatric Endocrine and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Wajeeh AldekhailGastroenterology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Sami AlhajjarPediatric Infectious Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Sulaiman Al-MayoufPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Abdulaziz AlsemariNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Walaa AlshuaibiPediatrics Department, King Khalid University Hospital, Riyadh 12372, Saudi Arabia.
Saeed AltalaPediatrics Department, Armed Forces Hospital, Khamis Mushait 62451, Saudi Arabia.
Abdulhadi AltalhiPediatric Nephrology, King Saud Medical City, Riyadh 12746, Saudi Arabia.
Salah BazNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Muddathir HamadPediatrics Department, King Khalid University Hospital, Riyadh 12372, Saudi Arabia.
Tariq AbalkhailNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Badi AlenaziPediatrics Department, Alyamama Hospital, Riyadh 14222, Saudi Arabia.
Alya AlkaffObstetrics and Gynecology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Fahad AlmoharebOncology Center, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Fuad Al MutairiKing Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11564, Saudi Arabia; Medical Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh 14611, Saudi Arabia.
Mona AlsalehPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Abdullah AlsonbulPediatric Rheumatology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Somaya AlzelayePediatric Endocrine and Diabetes, Al Qunfudah General Hospital, Al Qunfudhah 28821, Saudi Arabia.
Shakir BahzadKuwait Medical Genetics Center, Kuwait City 65000, Kuwait.
Abdulaziz Bin ManeePediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ola JarradPediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Neama MerikiMaternal and Fetal Medicine, King Khalid University Hospital, Riyadh 12372, Saudi Arabia.
Bassem AlbeiroutiHematology and Oncology, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Amal AlqasmiPediatrics Department, King Saud Medical City, Riyadh 12746, Saudi Arabia.
Mohammed AlBalwiDepartment of Pathology and Laboratory Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
Nawal MakhseedPediatrics Department, Alsoor Clinic, Kuwait City 65000, Kuwait.
Saeed HassanPediatrics Department, King Khalid University Hospital, Riyadh 12372, Saudi Arabia.
Isam SalihHepatic-Pancreatic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Mustafa A SalihDepartment of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh 11461, Saudi Arabia.
Marwan ShaheenHematology and Bone Marrow Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Saadeh SerminPediatric Nephrology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Shamsad ShahrukhNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Shahrukh HashmiHematology and Bone Marrow Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Ayman ShawliDepartment of Pediatrics, King Abdulaziz Medical City, Jeddah 9515, Saudi Arabia.
Ameen TajuddinNeurology, King Fahad Hospital, Medina 59046, Saudi Arabia.
Abdullah TamimPediatrics Neurology, King Faisal Specialist Hospital and Research Centre, Jeddah 23433, Saudi Arabia.
Ahmed AlnahariPediatric Department, King Fahad Central Hospital, Gizan, 82666, Saudi Arabia.
Ibrahim GhemlasPediatric Hematology and Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Maged HusseinNephrology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Sami WaliPediatrics Department, Prince Sultan Military Medical Complex, Riyadh 12233, Saudi Arabia.
Hatem MuradNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
Brian F MeyerDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; Saudi Diagnostic Laboratories, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
King Faisal Specialist Hospital & Research Centre · SAKing Saud Medical City · SAKing Khalid University Hospital · SAKing Abdulaziz City for Science and Technology · SAAlfaisal University · SAKing Fahad Central Hospital · SAKing Saud bin Abdulaziz University for Health Sciences · SAKuwait Institute for Medical Specialization · KWRiyadh Armed Forces Hospital · SAArmed Forces Hospital · SABuraydah Colleges · SAImam Abdulrahman Bin Faisal University · SAKing Abdulaziz Medical City · SAKing Fahad Hospital Jeddah · SAKing Fahd Hospital of the University · SAKing Saud University · SANational Research Centre · EGSecurity Forces Hospital · SATaibah University · SA
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
Indexed as
ConsanguinityGenes, RecessiveGenetic Predisposition to DiseaseMutationChildCohort StudiesExome SequencingFemaleGenetic Diseases, X-LinkedHomozygoteHumansMalePhenotypePregnancySaudi Arabiaautozygomecandidate genesclinical genomicsdual diagnosisexomeexpanded carrier screeningfetal malformationfirst-tiergenomics-firstgonadal mosaicismhybrid phenotypeknockoutmultilocus phenotypesphenotypic expansionprenatal
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