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Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

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Getting to the cores of autism

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Exome and genome sequencing for inborn errors of immunity

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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

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Quantifying the contribution of recessive coding variation to developmental disorders

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Iranome: A catalog of genomic variations in the Iranian population

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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

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Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

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Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

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The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

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IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes

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Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

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Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

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Qatar genome: Insights on genomics from the Middle East

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The genetic structure of the Turkish population reveals high levels of variation and admixture

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Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

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Purging of highly deleterious mutations through severe bottlenecks in Alpine ibexPreprint

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Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

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Rare penetrant mutations confer severe risk of common diseases

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Human ancestry correlates with language and reveals that race is not an objective genomic classifier

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Effect of inbreeding on intellectual disability revisited by trio sequencing

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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

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Biallelic variants in KIF14 cause intellectual disability with microcephaly

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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

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Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

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Distinct genetic variation and heterogeneity of the Iranian population

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

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FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

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Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition

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Understanding the Hidden Complexity of Latin American Population Isolates

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

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Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

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Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D., Derks, T. G. J., Bick, D. P., Bouman, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06250-w · Cited by 51

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes

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A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Kausthubham, N., Shukla, A., Gupta, N., Bhavani, G. S., Kulshrestha, S., Bhowmik, A. D., Moirangthem, A., Bijarnia‐Mahay, S., Kabra, M., Puri, R. D., et al. (2021) · Human Mutation · doi:10.1002/humu.24172 · Cited by 49

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

Allouba, M., Walsh, R., Afify, A., Hosny, M., Halawa, S., Galal, A. A., Fathy, M., Theotokis, P. I., Boraey, A., Ellithy, A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad372 · Cited by 48

Extensive geographical and social structure in the paternal lineages of Saudi Arabia revealed by analysis of 27 Y-STRs

Khubrani, Y. M., Wetton, J. H., & Jobling, M. A. (2017) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2017.11.015 · Cited by 48

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

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Genetic variation in the Middle East—an opportunity to advance the human genetics field

Tayoun, A. N. A., & Rehm, H. L. (2020) · Genome Medicine · doi:10.1186/s13073-020-00821-7 · Cited by 45

Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana

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An integrated personal and population-based Egyptian genome reference

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Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

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Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

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Multivariate statistical approach and machine learning for the evaluation of biogeographical ancestry inference in the forensic field

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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

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