Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works

BEDTools: a flexible suite of utilities for comparing genomic features

Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437 · see citing works

The variant call format and VCFtools

Danecek, P., Auton, A., Abecasis, G. R., Albers, C. A., Banks, E., DePristo, M. A., Handsaker, R. E., Lunter, G. A., Marth, G., Sherry, S. T., et al. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr330 · Cited by 16,008 · see citing works

ggplot2: Elegant Graphics for Data Analysis

Wickham, H. (2009) · doi:10.1007/978-0-387-98141-3 · Cited by 14,447 · see citing works

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works

A method and server for predicting damaging missense mutations.

Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works

Fast and accurate long-read alignment with Burrows-Wheeler transform.

Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063 · see citing works

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w ¹¹¹⁸ ; iso-2; iso-3

Cingolani, P., Platts, A., Wang, L. L., Coon, M., Nguyen, T., Wang, L., Land, S. J., Lu, X., & Ruden, D. M. (2012) · Fly · doi:10.4161/fly.19695 · Cited by 11,816 · see citing works

A framework for variation discovery and genotyping using next-generation DNA sequencing data

DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works

Principal components analysis corrects for stratification in genome-wide association studies

Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works

Fast model-based estimation of ancestry in unrelated individuals

Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898 · see citing works

An integrated map of genetic variation from 1,092 human genomes

The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works

Population Structure and Eigenanalysis

Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works

A draft sequence of the Neandertal genome

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318 · see citing works

Robust relationship inference in genome-wide association studies

Manichaikul, A., Mychaleckyj, J. C., Rich, S. S., Daly, K., Sale, M., & Chen, W.-M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq559 · Cited by 3,541 · see citing works

Inference of population splits and mixtures from genome-wide allele frequency data

Pickrell, J. K., & Pritchard, J. K. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002967 · Cited by 2,731 · see citing works

A high-coverage genome sequence from an archaic denisovan individual

Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967 · see citing works

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,947 · see citing works

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001025 · Cited by 1,757 · see citing works

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · see citing works

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272 · see citing works

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224 · see citing works

Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

Huerta-Sánchez, E., Jin, X., Asan, Bianba, Z., Peter, B. M., Vinckenbosch, N., Liang, Y., Yi, X., He, M., Somel, M., et al. (2014) · Nature · doi:10.1038/nature13408 · Cited by 1,208 · see citing works

The genomic landscape of Neanderthal ancestry in present-day humans

Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., Patterson, N., & Reich, D. (2014) · Nature · doi:10.1038/nature12961 · Cited by 1,107 · see citing works

A Human Genome Diversity Cell Line Panel

Cann, H. M., de Toma, C., Cazes, L., Legrand, M.-F., Morel, V., Piouffre, L., Bodmer, J. G., Bodmer, W. F., Bonné, B., Cambon‐Thomsen, A., et al. (2002) · Science · doi:10.1126/science.296.5566.261b · Cited by 997 · see citing works

RefSeq: an update on mammalian reference sequences

Pruitt, K. D., Brown, G., Hiatt, S. M., Thibaud‐Nissen, F., Astashyn, A., Ermolaeva, O. D., Farrell, C. M., Hart, J. A., Landrum, M., McGarvey, K. M., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1114 · Cited by 936 · see citing works

A genetic atlas of human admixture history

Hellenthal, G., Busby, G. B. J., Band, G., Wilson, J. F., Capelli, C., Falush, D., & Myers, S. (2014) · Science · doi:10.1126/science.1243518 · Cited by 798 · see citing works

The Effect of Variation of Fitness

Haldane, J. B. S. (1937) · The American Naturalist · doi:10.1086/280722 · Cited by 680 · see citing works

Consanguinity and reproductive health among Arabs

Tadmouri, G. O., Nair, P., Obeid, T., Ali, M. T. A., Khaja, N. A., & Hamamy, H. (2009) · Reproductive Health · doi:10.1186/1742-4755-6-17 · Cited by 642 · see citing works

Genomic Patterns of Homozygosity in Worldwide Human Populations

Pemberton, T. J., Absher, D., Feldman, M. W., Myers, R., Rosenberg, N. A., & Li, J. Z. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.014 · Cited by 598 · see citing works

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., et al. (2014) · Science · doi:10.1126/science.1247363 · Cited by 538 · see citing works

Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

Williams, A. L., Jacobs, S. B. R., Churchhouse, C. L., Burtt, N. P., Florez, J. C., Altshuler, D., Ripke, S., Manning, A. K., Neale, B. M., Reich, D., et al. (2013) · Nature · doi:10.1038/nature12828 · Cited by 498 · see citing works

Impairment of immunity to <i>Candida</i> and <i>Mycobacterium</i> in humans with bi-allelic <i>RORC</i> mutations

Okada, S., Markle, J. G., Deenick, E. K., Mele, F., Averbuch, D., Lagos, M., Alzahrani, M., Al-Muhsen, S., Halwani, R., Ma, C. S., et al. (2015) · Science · doi:10.1126/science.aaa4282 · Cited by 413 · see citing works

The genome-wide structure of the Jewish people

Behar, D. M., Yunusbayev, B., Metspalu, M., Metspalu, E., Rosset, S., Parik, J., Rootsi, S., Chaubey, G., Kutuev, I. A., Yudkovsky, G., et al. (2010) · Nature · doi:10.1038/nature09103 · Cited by 407 · see citing works

Genetic disorders in the Arab world

Al‐Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006) · BMJ · doi:10.1136/bmj.38982.704931.ae · Cited by 369 · see citing works

Long Runs of Homozygosity Are Enriched for Deleterious Variation

Szpiech, Z. A., Xu, J., Pemberton, T. J., Peng, W., Zöllner, S. K., Rosenberg, N. A., & Li, J. Z. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.05.003 · Cited by 335 · see citing works

Genomic Ancestry of North Africans Supports Back-to-Africa Migrations

Henn, B. M., Botigué, L. R., Gravel, S., Wang, W., Brisbin, A., Byrnes, J. K., Fadhlaoui-Zid, K., Zalloua, P. A., Moreno-Estrada, A., Bertranpetit, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002397 · Cited by 331 · see citing works

Reconstructing the population genetic history of the Caribbean

Moreno-Estrada, A., Gravel, S., Zakharia, F., McCauley, J. L., Byrnes, J. K., Gignoux, C. R., Ortiz-Tello, P. A., Martínez, R. J., Hedges, D. J., Morris, R. W., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003925 · Cited by 327 · see citing works

Hereditary spastic paraplegias: membrane traffic and the motor pathway

Blackstone, C. D., O’Kane, C. J., & Reid, E. (2010) · Nature reviews. Neuroscience · doi:10.1038/nrn2946 · Cited by 311 · see citing works

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Dixon-Salazar, T. J., Silhavy, J., Udpa, N., Schroth, J., Bielas, S. L., Schaffer, A., Olvera, J., Bafna, V., Zaki, M., Abdel-Salam, G., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003544 · Cited by 286 · see citing works

The deleterious mutation load is insensitive to recent population history.

Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. (2014) · Nature Genetics · doi:10.1038/ng.2896 · Cited by 279 · see citing works

The prevalence and demographic characteristics of consanguineous marriages in Pakistan.

HUSSAIN, R., & BITTLES, A. H. (1998) · Journal of Biosocial Science · doi:10.1017/s0021932098002612 · Cited by 262 · see citing works

Association of a Low-Frequency Variant in <i>HNF1A</i> With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA · doi:10.1001/jama.2014.6511 · Cited by 259 · see citing works

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Stévanin, G., Azzedine, H., Denora, P. S., Boukhris, A., Tazir, M., Lossos, A., Rosa, A. L., Lerer, I., Hamri, A., Alegria, P., et al. (2007) · Brain · doi:10.1093/brain/awm293 · Cited by 257 · see citing works

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

Casanova, J., Conley, M. E., Seligman, S. J., Abel, L., & Notarangelo, L. D. (2014) · The Journal of Experimental Medicine · doi:10.1084/jem.20140520 · Cited by 255 · see citing works

Identification of a large set of rare complete human knockouts

Sulem, P., Helgason, H., Oddson, A., Stefansson, H., Gudjonsson, S. A., Zink, F., Hjartarson, E., Sigurdsson, G. T., Jonasdottir, A., Jonasdottir, A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3243 · Cited by 220 · see citing works

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

Erichsen, A. K., Koht, J. A., Stray‐Pedersen, A., Abdelnoor, M., & Tallaksen, C. M. E. (2009) · Brain · doi:10.1093/brain/awp056 · Cited by 211 · see citing works

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

Do, R., Balick, D. J., Li, H., Adzhubei, I. A., Sunyaev, S. R., & Reich, D. (2015) · Nature Genetics · doi:10.1038/ng.3186 · Cited by 208 · see citing works

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe

Botigué, L. R., Henn, B. M., Gravel, S., Maples, B. K., Gignoux, C. R., Corona, E., Atzmon, G., Burns, E., Ostrer, H., Flores, C., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1306223110 · Cited by 199 · see citing works

Use of isolated inbred human populations for identification of disease genes

Sheffield, V. C., Stone, E. M., & Carmi, R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01556-x · Cited by 128 · see citing works

Population Genetic Structure of the People of Qatar

Hunter-Zinck, H., Musharoff, S. A., Salit, J., Alali, K., Chouchane, L., Gohar, A., Matthews, R., Butler, M. W., Fuller, J. A., Hackett, N. R., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.05.018 · Cited by 127 · see citing works

Birth Defects and Parental Consanguinity in Norway

Stoltenberg, C., Magnus, P. M., Lie, R. T., Daltveit, A. K., & Irgens, L. (1997) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a009126 · Cited by 124 · see citing works

Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze

Vardi-Saliternik, R., Friedlander, Y., & Cohen, T. (2002) · Annals of Human Biology · doi:10.1080/03014460110100928 · Cited by 119 · see citing works

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

Magi, A., Tattini, L., Palombo, F., Benelli, M., Gialluisi, A., Giusti, B., Abbate, R., Seri, M., Gensini, G. F., Romeo, G. C., et al. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu401 · Cited by 99 · see citing works

Consanguinity and genetic diseases in North Africa and immigrants to Europe

Anwar, W. A., Khyatti, M., & Hemminki, K. (2014) · European Journal of Public Health · doi:10.1093/eurpub/cku104 · Cited by 95 · see citing works

Consanguinity and adult morbidity in Pakistan

Shami, S. A., Qaisar, R., & Bittles, A. H. (1991) · The Lancet · doi:10.1016/0140-6736(91)91828-i · Cited by 79 · see citing works

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Leutenegger, A., Sahbatou, M., Gazal, S., Cann, H. M., & Génin, E. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.205 · Cited by 62 · see citing works

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

Alsalem, A. B., Halees, A. S., Anazi, S., Alshamekh, S. A., & Alkuraya, F. S. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1004030 · Cited by 48 · see citing works

Neanderthal and Denisova genetic affinities with contemporary humans: Introgression versus common ancestral polymorphisms

Lowery, R. K., Uribe, G., Jimenez, E. B., Weiss, M. A., Herrera, K. J., Regueiro, M., & Herrera, R. J. (2013) · Gene · doi:10.1016/j.gene.2013.06.005 · Cited by 44 · see citing works

Regional research priorities in brain and nervous system disorders

Ravindranath, V., Dang, H., Goya, R. G., Mansour, H., Nimgaonkar, V. L., Russell, V. A., & Yu, X. (2015) · Nature · doi:10.1038/nature16036 · Cited by 44 · see citing works

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data

Polašek, O., Hayward, C., Bellenguez, C., Vitart, V., Kolčić, I., McQuillan, R., Saftić, V., Gyllensten, U. B., Wilson, J. F., Rudan, I., et al. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-139 · Cited by 36 · see citing works

Apparent Variation in Neanderthal Admixture among African Populations is Consistent with Gene Flow from Non-African Populations

Wang, S., Lachance, J., Tishkoff, S. A., Hey, J., & Xing, J. (2013) · Genome Biology and Evolution · doi:10.1093/gbe/evt160 · Cited by 34 · see citing works

Can the impact of human genetic variations be predicted?

Itan, Y., & Casanova, J. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1515057112 · Cited by 33 · see citing works

Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies

Pippucci, T., Magi, A., Gialluisi, A., & Romeo, G. (2014) · Human Heredity · doi:10.1159/000362412 · Cited by 28 · see citing works

North African Berber and Arab Influences in the Western Mediterranean Revealed by Y-Chromosome DNA Haplotypes

Gérard, N., Berriche, S., Aouizérate, A., Diéterlen, F., & Lucotte, G. (2006) · Human Biology · doi:10.1353/hub.2006.0045 · Cited by 25 · see citing works

The effect of reproductive compensation on recessive disorders within consanguineous human populations.

Overall, A. D. J., Ahmad, M., & Nichols, R. A. (2002) · Heredity · doi:10.1038/sj.hdy.6800090 · Cited by 23 · see citing works

The Broader Middle East and North Africa Initiative: An Overview

Sharp, J. M. (2005) · University of North Texas Digital Library (University of North Texas) · Cited by 20 · see citing works

Runs of homozygosity: windows into population history and trait architecture

Ceballos, F. C., Joshi, P. K., Clark, D. W., Ramsay, M., & Wilson, J. F. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.109 · Cited by 1,006 · see citing works

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature · doi:10.1038/nature22034 · Cited by 340 · see citing works

Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex

Grossen, C., Guillaume, F., Keller, L. F., & Croll, D. (2020) · Nature Communications · doi:10.1038/s41467-020-14803-1 · Cited by 283 · see citing works

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

Monies, D., Abouelhoda, M., Assoum, M., Moghrabi, N. N., Rafiullah, R., Almontashiri, N. A. M., Al‐Owain, M. A., Alzaidan, H., Al-Sayed, M., Subhani, S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.04.011 · Cited by 287 · see citing works

Getting to the cores of autism

Iakoucheva, L. M., Muotri, A. R., & Sebat, J. (2019) · Cell · doi:10.1016/j.cell.2019.07.037 · Cited by 260 · see citing works

Exome and genome sequencing for inborn errors of immunity

Meyts, I., Bosch, B., Bolze, A., Boisson, B., Itan, Y., Belkadi, A., Pedergnana, V., Moens, L., Pïcard, C., Cobat, A., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.08.003 · Cited by 215 · see citing works

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

Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology · doi:10.1186/s13059-018-1396-2 · Cited by 217 · see citing works

Quantifying the contribution of recessive coding variation to developmental disorders

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., et al. (2018) · Science · doi:10.1126/science.aar6731 · Cited by 201 · see citing works

Insights into genetics, human biology and disease gleaned from family based genomic studies

Posey, J. E., O’Donnell‐Luria, A., Chong, J. X., Harel, T., Jhangiani, S. N., Coban‐Akdemir, Z., Buyske, S. G., Pehli̇van, D., Carvalho, C. M. B., Baxter, S. M., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0408-7 · Cited by 198 · see citing works

Iranome: A catalog of genomic variations in the Iranian population

Fattahi, Z., Beheshtian, M., Mohseni, M., Poustchi, H., Sellars, E., Nezhadi, S. H., Amini, A., Arzhangi, S., Jalalvand, K., Jamali, P., et al. (2019) · Human Mutation · doi:10.1002/humu.23880 · Cited by 188 · see citing works

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

Lévy, R., Okada, S., Béziat, V., Moriya, K., Liu, C.-N., Chai, L., Migaud, M., Hauck, F., Ali, A. K. A., Cyrus, C., et al. (2016) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1618300114 · Cited by 163 · see citing works

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

Abolhassani, H., Edwards, E. S. J., İkincioğulları, A., Jing, H., Borte, S., Buggert, M., Du, L., Matsuda‐Lennikov, M., Romano, R., Caridha, R., et al. (2016) · The Journal of Experimental Medicine · doi:10.1084/jem.20160849 · Cited by 156 · see citing works

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

Sheikh, T. I., Vasli, N., Pastore, S. F., Kharizi, K., Harripaul, R., Fattahi, Z., Pande, S., Naeem, F., Hussain, A., Mir, A., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-020-01158-w · Cited by 143 · see citing works

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

Tsaousis, G., Papadopoulou, E., Apessos, A., Αγιαννιτόπουλος, Κ., Pepe, G., Kampouri, S., Diamantopoulos, N., Floros, T., Iosifidou, R., Katopodi, O., et al. (2019) · BMC Cancer · doi:10.1186/s12885-019-5756-4 · Cited by 139 · see citing works

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

Yang, R., Mele, F., Worley, L., Langlais, D., Rosain, J., Benhsaien, I., Elarabi, H., Croft, C. A., Doisne, J., Zhang, P., et al. (2020) · Cell · doi:10.1016/j.cell.2020.10.046 · Cited by 138 · see citing works

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

Rosain, J., Neehus, A., Manry, J., Yang, R., Pen, J. L., Daher, W., Liu, Z., Chan, Y., Tahuil, N., Türel, Ö., et al. (2023) · Cell · doi:10.1016/j.cell.2022.12.038 · Cited by 140 · see citing works

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

de Jong, S. J., Créquer-Grandhomme, A., Matos, I., Hum, D., Gunasekharan, V., Lorenzo, L., Jabot‐Hanin, F., Imahorn, E., Arias, A. A., Vahidnezhad, H., et al. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20170308 · Cited by 134 · see citing works

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

Jain, A. K., Bhoyar, R. C., Pandhare, K., Mishra, A., Sharma, D., Imran, M., Senthivel, V., Divakar, M. K., Rophina, M., Jolly, B., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa923 · Cited by 126 · see citing works

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

Wang, Y., Ma, C. S., Ling, Y., Bousfiha, A. A., Çamcıoğlu, Y., Jacquot, S., Payne, K. J., Crestani, E., Roncagalli, R., Belkadi, A., et al. (2016) · The Journal of Experimental Medicine · doi:10.1084/jem.20160576 · Cited by 121 · see citing works

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

Abolhassani, H., Aghamohammadi, A., Fang, M., Rezaei, N., Jiang, C., Liu, X., Pan‐Hammarström, Q., & Hammarström, L. L. G. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0012-x · Cited by 110 · see citing works

Qatar genome: Insights on genomics from the Middle East

Mbarek, H., Gandhi, G. D., Selvaraj, S., Al‐Muftah, W., Badji, R. M., Al-Sarraj, Y. A., Saad, C., Darwish, D., Alvi, M. A., Fadl, T., et al. (2022) · Human Mutation · doi:10.1002/humu.24336 · Cited by 109 · see citing works

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

Kars, M. E., Başak, A. N., Onat, O. E., Bilgüvar, K., Choi, J., Itan, Y., Çağlar, C., Palvadeau, R. J., Casanova, J., Cooper, D. N., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2026076118 · Cited by 107 · see citing works

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

Abolhassani, H., Kiaee, F., Tavakol, M., Chavoshzadeh, Z., Mahdaviani, S. A., Momen, T., Yazdani, R., Azizi, G., Habibi, S., Gharagozlou, M., et al. (2018) · Journal of Clinical Immunology · doi:10.1007/s10875-018-0556-1 · Cited by 103 · see citing works

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

Martin, P. B., Kigoshi-Tansho, Y., Sher, R. B., Ravenscroft, G., Stauffer, J. E., Kumar, R., Yonashiro, R., Müller, T., Griffith, C. B., Allen, W., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18327-6 · Cited by 100 · see citing works

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

Voyer, T. L., Neehus, A., Yang, R., Ogishi, M., Rosain, J., Alroqi, F. J., Alshalan, M., Blumental, S., Ali, F. A., Khan, T., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2102804118 · Cited by 86 · see citing works

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

Haskamp, S., Bruns, H., Hahn, M., Hoffmann, M., Gregor, A., Löhr, S., Hahn, J., Schauer, C., Ringer, M., Flamann, C., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.07.001 · Cited by 84 · see citing works

Purging of highly deleterious mutations through severe bottlenecks in Alpine ibexPreprint

Grossen, C., Guillaume, F., Keller, L., & Croll, D. (2019) · bioRxiv · doi:10.1101/605147 · Cited by 11 · see citing works

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

Aghamohammadi, A., Rezaei, N., Yazdani, R., Delavari, S., Kütükçüler, N., Topyıldız, E., Ozen, A. O., Barış, S., Karakoç-Aydıner, E., Kılıç, S. Ş., et al. (2021) · Journal of Clinical Immunology · doi:10.1007/s10875-021-01053-z · Cited by 80 · see citing works

Rare penetrant mutations confer severe risk of common diseases

Fiziev, P. P., McRae, J. F., Ulirsch, J. C., Dron, J. S., Hamp, T., Yang, Y., Wainschtein, P., Ni, Z., Schraiber, J. G., Gao, H. C., et al. (2023) · Science · doi:10.1126/science.abo1131 · Cited by 73 · see citing works

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

Baker, J. L., Rotimi, C. N., & Shriner, D. (2017) · Scientific Reports · doi:10.1038/s41598-017-01837-7 · Cited by 76 · see citing works

Effect of inbreeding on intellectual disability revisited by trio sequencing

Kahrizi, K., Hu, H., Hosseini, M., Kalscheuer, V. M., Fattahi, Z., Beheshtian, M., Suckow, V., Mohseni, M., Lipkowitz, B., Mehvari, S., et al. (2018) · Clinical Genetics · doi:10.1111/cge.13463 · Cited by 76 · see citing works

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

Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.019 · Cited by 74 · see citing works

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Makrythanasis, P., Maroofian, R., Stray‐Pedersen, A., Musaev, D., Zaki, M. S., Mahmoud, I. G. E. D., Selim, L., Badawy, A. E., Jhangiani, S. N., Coban‐Akdemir, Z., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-017-0088-9 · Cited by 72 · see citing works

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

Alazami, A. M., Al-Helale, M., Alhissi, S., Al‐Saud, B., Alajlan, H., Monies, D., Shah, Z. A., Abouelhoda, M. I., Arnaout, R., Al‐Dhekri, H., et al. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00203 · Cited by 71 · see citing works

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity

Szpiech, Z. A., Mak, A. C. Y., White, M. J., Hu, D., Eng, C. S., Burchard, E. G., & Hernandez, R. D. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.011 · Cited by 63 · see citing works

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

Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W. M., Alsagob, M., Čapo, I., van der Linde, H. C., van den Berg, P., Jacobs, E. H., Putar, D., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02109-6 · Cited by 70 · see citing works

Distinct genetic variation and heterogeneity of the Iranian population

Mehrjoo, Z., Fattahi, Z., Beheshtian, M., Mohseni, M., Poustchi, H., Ardalani, F., Jalalvand, K., Arzhangi, S., Mohammadi, Z., Khoshbakht, S., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008385 · Cited by 67 · see citing works

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

Maffucci, P., Bigio, B., Rapaport, F., Cobat, A., Borghesi, A., Lopez, M., Patin, É., Bolze, A., Shang, L., Bendavid, M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808403116 · Cited by 67 · see citing works

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

Tiosano, D., Baris, H. N., Chen, A., Hitzert, M. M., Schueler, M., Gulluni, F., Wiesener, A., Bergua, A., Mory, A., Copeland, B. R., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008088 · Cited by 66 · see citing works

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

Wenderski, W., Wang, L., Krokhotin, A., Walsh, J. J., Li, H., Shoji, H., Ghosh, S. G., George, R. D., Miller, E. L., Elias, L., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1908238117 · Cited by 59 · see citing works

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

Momenilandi, M., Lévy, R., Sobrino, S., Li, J., Lagresle‐Peyrou, C., Esmaeilzadeh, H., Fayand, A., Floc’h, C. L., Guérin, A., Mina, E. D., et al. (2024) · Cell · doi:10.1016/j.cell.2024.04.009 · Cited by 64 · see citing works

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

Grabowski, P., Hesse, S., Hollizeck, S., Rohlfs, M., Behrends, U., Sherkat, R., Tamary, H., Ünal, E., Somech, R., Patıroğlu, T., et al. (2019) · Molecular & Cellular Proteomics · doi:10.1074/mcp.ra118.001141 · Cited by 63 · see citing works

Understanding the Hidden Complexity of Latin American Population Isolates

Mooney, J. A., Huber, C. D., Service, S. K., Sul, J. H., Marsden, C. D., Zhang, Z., Sabatti, C., Ruiz‐Linares, A., Bedoya, G., Freimer, N. B., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.09.013 · Cited by 63 · see citing works

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

Chen, A., Tiosano, D., Güran, T., Baris, H. N., Bayram, Y., Mory, A., Shapiro-Kulnane, L., Hodges, C. A., Coban‐Akdemir, Z., Turan, S., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy098 · Cited by 62 · see citing works

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

Montaser, H., Patel, K. A., Balboa, D., Ibrahim, H., Lithovius, V., Näätänen, A., Chandra, V., Demir, K., Acar, S., Ben‐Omran, T., et al. (2021) · Diabetes · doi:10.2337/db20-1174 · Cited by 61 · see citing works

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

Santos-Cortez, R. L. P., Khan, V., Khan, F. S., Mughal, Z.-U.-N., Chakchouk, I., Lee, K., Rasheed, M., Hamza, R., Acharya, A., Ullah, E., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1928-6 · Cited by 55 · see citing works

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

Drutman, S. B., Mansouri, D., Mahdaviani, S. A., Neehus, A., Hum, D., Bryk, R., Hernandez, N., Belkaya, S., Rapaport, F., Bigio, B., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa1910640 · Cited by 56 · see citing works

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

Peter, V. G., Kamińska, K., Santos, C., Quinodoz, M., Cancellieri, F., Cisarova, K. V., Gobert, R. P., Rodrigues, R., Custódio, S., Paris, L. P., et al. (2023) · PNAS Nexus · doi:10.1093/pnasnexus/pgad043 · Cited by 53 · see citing works

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

Razali, R., Rodríguez-Flores, J. L., Ghorbani, M., Naeem, H., Aamer, W., ALIYEV, E. E., Jubran, A., Qatar Genome Project Management, Ismail, S. I., Al‐Muftah, W., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25287-y · Cited by 53 · see citing works

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

Becker, L., Dafsari, H. S., Schallner, J., Abdin, D., Seifert, M., Petit, F., Smol, T., Bok, L. A., Rodan, L. H., Krapels, I. P. C., et al. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0803-1 · Cited by 49 · see citing works

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 · see citing works

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

Lytrivi, M., Senée, V., Salpea, P., Fantuzzi, F., Philippi, A., Abdulkarim, B., Sawatani, T., Marín‐Cañas, S., Pachera, N., Degavre, A., et al. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-0636 · Cited by 51 · see citing works

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 48 · see citing works

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 · see citing works

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 · see citing works

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

Liaqat, K., Schrauwen, I., Raza, S. I., Lee, K., Hussain, S., Chakchouk, I., Nasır, A., Acharya, A., Abbe, I., Umair, M., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0542-8 · Cited by 48 · see citing works

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 · see citing works

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

Retshabile, G., Mlotshwa, B., Williams, L., Mwesigwa, S., Mboowa, G., Huang, Z., Rustagi, N., Swaminathan, S., Katagirya, E., Kyobe, S., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.010 · Cited by 41 · see citing works

An integrated personal and population-based Egyptian genome reference

Wohlers, I., Künstner, A., Munz, M., Olbrich, M. R., Fähnrich, A., Calonga‐Solís, V., Ma, C., Hirose, M., El-Mosallamy, S., Salama, M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17964-1 · Cited by 43 · see citing works

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

Salas‐Huetos, A., Tüttelmann, F., Wyrwoll, M. J., Kliesch, S., Lopes, A. M., Gonçalves, J., Boyden, S. E., Wöste, M., Hotaling, J. M., Nagirnaja, L., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02236-1 · Cited by 43 · see citing works

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

Tuncay, İ. O., Parmalee, N. L., Khalil, R., Kaur, K. J., Kumar, A., Jimale, M., Howe, J., Goodspeed, K., Evans, P., Alzghoul, L., et al. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00284-2 · Cited by 38 · see citing works

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

Schrauwen, I., Liaqat, K., Schatteman, I., Bharadwaj, T., Nasır, A., Acharya, A., Ahmad, W., Camp, G. V., & Leal, S. M. (2020) · Genes · doi:10.3390/genes11060687 · Cited by 38 · see citing works

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

Momtazmanesh, S., Rayzan, E., Shahkarami, S., Rohlfs, M., Klein, C., & Rezaei, N. (2020) · BMC Medical Genetics · doi:10.1186/s12881-020-01075-1 · Cited by 39 · see citing works

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

Alladio, E., Poggiali, B., Cosenza, G., & Pilli, E. (2022) · Scientific Reports · doi:10.1038/s41598-022-12903-0 · Cited by 39 · see citing works

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

Schrauwen, I., Giese, A. P. J., Aziz, A., Lafont, D., Chakchouk, I., Santos‐Cortez, R. L. P., Lee, K., Acharya, A., Khan, F. S., Ullah, A., et al. (2018) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3594 · Cited by 38 · see citing works

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S. C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M. S., Onojafe, F., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-08547-w · Cited by 38 · see citing works

Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database

Nachtegael, C., Gravel, B., Dillen, A., Smits, G., Nowé, A., Papadimitriou, S., & Lenaerts, T. (2022) · Database · doi:10.1093/database/baac023 · Cited by 37 · see citing works

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Materna, M., Delmonte, O. M., Bosticardo, M., Momenilandi, M., Conrey, P. E., Muylder, B. C.-D., Bravetti, C., Bellworthy, R., Cederholm, A., Staels, F., et al. (2024) · Science · doi:10.1126/science.adh4059 · Cited by 37 · see citing works

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Mohamoud, H. S. A., Ahmed, S., Jelani, M., Alrayes, N. M., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S., & Nasir, J. (2018) · Scientific Reports · doi:10.1038/s41598-018-20658-w · Cited by 37 · see citing works

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Mencacci, N. E., Brockmann, M. M., Dai, J., Pajusalu, S., Atasu, B., González-Latapí, P., Patzke, C., Schwake, M., Tucci, A., Pittman, A. M., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci140625 · Cited by 37 · see citing works

Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates

Mousa, M., Vurivi, H., Kannout, H., Uddin, M., Kaabi, N. A. M. A., Mahboub, B. H., Tay, G. K., & AlSafar, H. S. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103695 · Cited by 36 · see citing works

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Breuss, M. W., Nguyen, A., Song, Q., Nguyen, T. B., Stanley, V., James, K. N., Musaev, D., Chai, G., Wirth, S. A., Anzenberg, P., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.06.011 · Cited by 36 · see citing works

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Cabrera‐Serrano, M., Coote, D., Azmanov, D. N., Goullée, H., Andersen, E., McLean, C., Davis, M. R., Ishimura, R., Stark, Z., Vallat, J., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106496 · Cited by 36 · see citing works

Human inbreeding has decreased in time through the Holocene

Ceballos, F. C., Gürün, K., Altınışık, N. E., Gemici, H. C., Karamurat, C., Koptekin, D., Vural, K. B., Mapelli, I., Sağlıcan, E., Sürer, E., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.06.027 · Cited by 37 · see citing works

Actionable genomic variants in 6045 participants from the Qatar Genome Program

Elfatih, A., Mifsud, B., Syed, N., Badii, R., Mbarek, H., Abbaszadeh, F., Estivill, X., Qatar Genome Project Management, Ismail, S. I., Al‐Muftah, W., et al. (2021) · Human Mutation · doi:10.1002/humu.24278 · Cited by 35 · see citing works

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics

John, S. E., Antony, D., Eaaswarkhanth, M., Hebbar, P., Channanath, A. M., Thomas, D., Devarajan, S., Tuomilehto, J., Al‐Mulla, F., Alsmadi, O. A., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-34815-8 · Cited by 34 · see citing works

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Wagner, M., Lévy, J., Jung‐Klawitter, S., Bakhtiari, S., Monteiro, F. P., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh, M., Kitajima, J. P., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0768-7 · Cited by 34 · see citing works

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy

Petropoulou, E., Soltani, M., Firoozabadi, A. D., Namayandeh, S. M., Crockford, J., Maroofian, R., & Jamshidi, Y. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.06.008 · Cited by 34 · see citing works

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

Çağlayan, A. O., Gümüş, H., Sandford, E., Kubisiak, T. L., Ma, Q., Ozel, A. B., Per, H., Li, J. Z., Shakkottai, V. G., & Burmeister, M. (2019) · The Cerebellum · doi:10.1007/s12311-019-01011-x · Cited by 33 · see citing works

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

Abdallah, A. M., Carlus, S. J., Almazroea, A., Allugmani, M. D., Almohammadi, Y., Bhuiyan, Z. A., & Al-Harbi, K. M. (2019) · Medicina · doi:10.3390/medicina55010017 · Cited by 31 · see citing works

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Jones, E. G., Mazaheri, N., Maroofian, R., Zamani, M., Seifi, T., Sedaghat, A., Shariati, G., Jamshidi, Y., Allen, H. D., Wehrens, X. H. T., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-44987-6 · Cited by 31 · see citing works

Germline mutations in a G protein identify signaling cross-talk in T cells

Ham, H., Jing, H., Lamborn, I. T., Kober, M. M., Koval, A., Berchiche, Y. A., Anderson, D. E., Druey, K. M., Mandl, J. N., Isidor, B., et al. (2024) · Science · doi:10.1126/science.add8947 · Cited by 31 · see citing works

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Vona, B., Maroofian, R., Bellacchio, E., Najafi, M., Thompson, K., Alahmad, A., He, L., Ahangari, N., Rad, A., Shahrokhzadeh, S., et al. (2018) · BMC Medical Genetics · doi:10.1186/s12881-018-0709-3 · Cited by 29 · see citing works

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Coulter, M. E., Musaev, D., DeGennaro, E. M., Zhang, X., Henke, K., James, K. N., Smith, R. S., Hill, R. S., Partlow, J. N., Al‐Saffar, M., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0758-9 · Cited by 28 · see citing works

Population structure of indigenous inhabitants of Arabia

Mineta, K., Goto, K., Gojobori, T., & Alkuraya, F. S. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009210 · Cited by 28 · see citing works

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Vona, B., Mazaheri, N., Lin, S., Dunbar, L. A., Maroofian, R., Azaiez, H., Booth, K. T. A., Vitry, S., Rad, A., Rüschendorf, F., et al. (2021) · Human Genetics · doi:10.1007/s00439-020-02254-z · Cited by 29 · see citing works

Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study

Saad, M., Mokrab, Y., Halabi, N. M., Shan, J., Razali, R., Kunji, K. B., Syed, N., Temanni, R., Subramanian, M., Ceccarelli, M., et al. (2022) · The Lancet Oncology · doi:10.1016/s1470-2045(21)00752-x · Cited by 29 · see citing works

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children

Abuhammour, W., Yavuz, L., Jain, R., Hammour, K. A., Al-Hammouri, G. F., Naofal, M. E., Halabi, N., Yaslam, S., Ramaswamy, S., Taylor, A., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.14985 · Cited by 29 · see citing works

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Lin, S., Vona, B., Porter, H. M., Izadi, M., Huang, K., Lacassie, Y., Rosenfeld, J. A., Khan, S., Petree, C., Ali, T. A., et al. (2022) · Human Mutation · doi:10.1002/humu.24435 · Cited by 26 · see citing works

Overcoming barriers to single-cell RNA sequencing adoption in low- and middle-income countries

Serebour, T. B., Cribbs, A. P., Baldwin, M. J., Masimirembwa, C. M., Chikwambi, Z., Kerasidou, A., & Snelling, S. J. B. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01564-4 · Cited by 26 · see citing works

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

Boßelmann, C. M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., Kobow, K., Hamer, H. M., Delev, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54911-w · Cited by 26 · see citing works

Clinical genetics and genomic medicine in Qatar

Al-Dewik, N. I. E., Al‐Mureikhi, M., Shahbeck, N., Ali, R., Al‐Mesaifri, F., Mahmoud, L., Othman, A. A., AlMulla, M., Alsulaiman, R., Musa, S. O., et al. (2018) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.474 · Cited by 26 · see citing works

Pharmacogenomic landscape of Indian population using whole genomes

Sahana, S., Bhoyar, R. C., Sivadas, A., Jain, A. K., Imran, M., Rophina, M., Senthivel, V., Diwakar, M. K., Sharma, D., Mishra, A., et al. (2022) · Clinical and Translational Science · doi:10.1111/cts.13153 · Cited by 26 · see citing works

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Kurolap, A., Eshach‐Adiv, O., Gonzaga-Jauregui, C. G., Dolnikov, K., Mory, A., Paperna, T., Hershkovitz, T., Overton, J. D., Kaplan, M., Glaser, F., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105299 · Cited by 26 · see citing works

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families

Holzinger, E. R., Li, Q., Parker, M. M., Hetmanski, J. B., Marazita, M. L., Mangold, E., Ludwig, K. U., Taub, M. A., Begum, F., Murray, J. C., et al. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.320 · Cited by 25 · see citing works

A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population

Elbait, G. D., Henschel, A., Tay, G. K., & AlSafar, H. S. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.660428 · Cited by 23 · see citing works

Genomics in Egypt: Current Status and Future Aspects

El-Attar, E., Elkaffas, R. H., Aglan, S. A., Naga, I. S., Nabil, A., & Abdallah, H. Y. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.797465 · Cited by 25 · see citing works

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Schrauwen, I., Chakchouk, I., Acharya, A., Liaqat, K., Irfanullah, I., Nickerson, D. A., Bamshad, M. J., Shah, K., Ahmad, W., & Leal, S. M. (2018) · BMC Medical Genetics · doi:10.1186/s12881-018-0618-5 · Cited by 25 · see citing works

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Cauley, E. S., Hamed, A. A., Mohamed, I. N., Elseed, M. A., Martinez, S., Yahia, A., Abozar, F., Abubakr, R., Koko, M., Elsayed, L. E. O., et al. (2019) · Neurogenetics · doi:10.1007/s10048-019-00577-2 · Cited by 25 · see citing works

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

Mani, R., Belkacem, S., Soua, Z., Chantot‐Bastaraud, S., Montantin, G., Tissier, S., Copin, B., Bouguila, J., Gouard, N. R. L., Boughamoura, L., et al. (2019) · Human Mutation · doi:10.1002/humu.23905 · Cited by 25 · see citing works

Genomic landscape of the Greater Middle East

Özçelık, T., & Onat, O. E. (2016) · Nature Genetics · doi:10.1038/ng.3652 · Cited by 21 · see citing works

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

Palombo, F., Graziano, C., Al-Wardy, N., Nouri, N., Marconi, C., Magini, P., Severi, G., Morgia, C. L., Cantalupo, G., Cordelli, D. M., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02187-7 · Cited by 14 · see citing works

Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation

Scott, E. (2015) · eScholarship (California Digital Library)

The influence of admixture and consanguinity on population genetic diversity in Middle East

Yang, X. W., Al‐Bustan, S. A., Feng, Q., Guo, W., Ma, Z.-M., Marafie, M. J., Jacob, S. P., Al‐Mulla, F., & Xu, S. (2014) · Journal of Human Genetics · doi:10.1038/jhg.2014.81 · Cited by 26 · see citing works

Middle Eastern genomes: new references for disease and population diversity studies

(2025) · Nature Genetics · doi:10.1038/s41588-025-02174-6