Exome sequencing identifies the cause of a mendelian disorder
Open accessAbstract
We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40x and sufficient depth to call variants at approximately 97% of each targeted exome. Filtering against public SNP databases and eight HapMap exomes for genes with two previously unknown variants in each of the four individuals identified a single candidate gene, DHODH, which encodes a key enzyme in the pyrimidine de novo biosynthesis pathway. Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome. Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
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Target capture and next-generation sequencing have shown efficacy and, recently, scalability for resequencing human genomes and exomes.
“Target capture and next-generation sequencing (NGS) have shown efficacy and, recently, scalability for resequencing human genomes and exomes, providing an alternative potential paradigm for comprehensive carrier testing (15–22).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [19]
Experimental — accuracy not yet measuredIn genome research, an average sequence coverage depth of 30-fold has been accepted as sufficient for detecting single-nucleotide polymorphisms and nucleotide insertions or deletions.
“In genome research, an average depth of sequence coverage of 30-fold has been accepted as sufficient for single-nucleotide polymorphism (SNP) and nucleotide insertion or deletion (indel) detection (15–22).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [19]
The Methods (Read mapping and variant analysis; page unavailable) use a ≥8× coverage cutoff for sequence calls and describe coding-indel identification, but do not assess whether 30-fold average coverage is sufficient. The Discussion (page unavailable) notes that low coverage can cause missed variant calls; searches for 30-fold coverage and its sufficiency found no statement of the claimed standard. (LLM, conf=0.76)
Experimental — accuracy not yet measuredTwo recent papers suggest that leveraging functional annotations and computational methods for predicting the consequences of specific rare variants can be used to great advantage in identifying disease-predisposing variants, at least for rare monogenic conditions.
“In fact, two recent papers23, 36 suggest that leveraging functional annotations and computational methods for predicting the consequences of specific rare variants can be used to great advantage in the identification of disease-predisposing variants, at least for rare monogenic conditions.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [23]
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Cites
Next-generation DNA sequencing
Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509 · see citing works
Self-citationMapping short DNA sequencing reads and calling variants using mapping quality scores
Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · see citing works
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030 · see citing works
Self-citationGenetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayır, A., Bakkaloğlu, A., Özen, S., Sanjad, S. A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,327 · see citing works
The Human Gene Mutation Database: 2008 update
Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N. (2009) · Genome Medicine · doi:10.1186/gm13 · Cited by 873 · see citing works
Genome-wide in situ exon capture for selective resequencing
Hodges, E. C., Xuan, Z., Balija, V. S., Kramer, M., Molla, M. N., Smith, S. W., Middle, C. M., Rodesch, M. J., Albert, T. J., Hannon, G. J., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.42 · Cited by 677 · see citing works
TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice
Luetteke, N., Qiu, T. H., Peiffer, R. L., Oliver, P. M., Smithies, O., & Lee, D. C. (1993) · Cell · doi:10.1016/0092-8674(93)90228-i · Cited by 658 · see citing works
Sex Limited Inheritance in Drosophila
Morgan, T. H. (1910) · Science · doi:10.1126/science.32.812.120 · Cited by 619 · see citing works
Kryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics · doi:10.1086/513473 · Cited by 598 · see citing works
Sex-linked inheritance in Drosophila
Morgan, T. H., & Bridges, C. B. (1916) · Carnegie Institution of Washington eBooks · doi:10.5962/bhl.title.54326 · Cited by 590 · see citing works
Pruitt, K. D., Harrow, J., Harte, R., Wallin, C., Diekhans, M., Maglott, D. R., Searle, S. M. J., Farrell, C. M., Loveland, J. E., Ruef, B. J., et al. (2009) · Genome Research · doi:10.1101/gr.080531.108 · Cited by 558 · see citing works
Leflunomide: mode of action in the treatment of rheumatoid arthritis
Breedveld, F. C., & Dayer, J.-M. (2000) · Annals of the Rheumatic Diseases · doi:10.1136/ard.59.11.841 · Cited by 487 · see citing works
Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function.
Chiang, C., Litingtung, Y., Harris, M. P., Simandl, B. K., Li, Y., Beachy, P. A., & Fallon, J. F. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0346 · Cited by 427 · see citing works
Deletion of Ultraconserved Elements Yields Viable Mice
Ahituv, N., Zhu, Y., Visel, A., Holt, A., Afzal, V., Pennacchio, L. A., & Rubin, E. M. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050234 · Cited by 319 · see citing works
Toydemir, R. M., Rutherford, A., Whitby, F. G., Jorde, L. B., Carey, J. C., & Bamshad, M. J. (2006) · Nature Genetics · doi:10.1038/ng1775 · Cited by 279 · see citing works
Self-citationBushdid, P. B., Brantley, D. M., Yull, F. E., Blaeuer, G. L., Hoffman, L. H., Niswander, L. A., & Kerr, L. D. (1998) · Nature · doi:10.1038/33435 · Cited by 158 · see citing works
Postaxial acrofacial dysostosis syndrome
Miller, M. E., Fineman, R. M., & Smith, D. W. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80285-1 · Cited by 101 · see citing works
Fukushima, R., Kanamori, S., Hirashiba, M., Hishikawa, A., Muranaka, R.-I., Kaneto, M., Nakamura, K., & Kato, I. (2007) · Reproductive Toxicology · doi:10.1016/j.reprotox.2007.05.006 · Cited by 81 · see citing works
Orotic Acid Excretion and Arginine Metabolism
Brosnan, M. E., & Brosnan, J. T. (2007) · Journal of Nutrition · doi:10.1093/jn/137.6.1656s · Cited by 72 · see citing works
The Strength of Selection on Ultraconserved Elements in the Human Genome
Chen, C. T. L., Wang, J. C. C., & Cohen, B. A. (2007) · The American Journal of Human Genetics · doi:10.1086/513149 · Cited by 70 · see citing works
Functional diversity within the rudimentary locus of Drosophila melanogaster
Jarry, B., & Falk, D. R. (1974) · Molecular and General Genetics MGG · doi:10.1007/bf00264779 · Cited by 69 · see citing works
Dietary myo-inositol therapy in hyperglycemia-induced embryopathy
Khandelwal, M., Reece, E. A., Wu, Y., & Borenstein, M. (1998) · Teratology · doi:10.1002/(sici)1096-9926(199802)57:2 · Cited by 60 · see citing works
Imose, M., Nagaki, M., Kimura, K., Takai, S., Imao, M., Naiki, T., Osawa, Y., Asano, T., Hayashi, H., & Moriwaki, H. (2004) · Hepatology · doi:10.1002/hep.20438 · Cited by 42 · see citing works
Grabar, P. B., Rozman, B., Logar, D., et al. (2009) · Annals of the Rheumatic Diseases · doi:10.1136/ard.2008.099093 · Cited by 38 · see citing works
Postaxial acrofacial dysostosis (Miller) syndrome.
Donnai, D., Hughes, H. E., & Winter, R. M. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.7.422 · Cited by 34 · see citing works
Fineman, R. M. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80546-x · Cited by 32 · see citing works
Ogilvy‐Stuart, A., & Parsons, A. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.10.695 · Cited by 31 · see citing works
Robin sequence and oligodactyly in mother and son
Robinow, M., Johnson, G., Apesos, J., et al. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320250214 · Cited by 25 · see citing works
TCOF1mutations excluded from a role in other first and second branchial arch‐related disorders
Splendore, A., Passos‐Bueno, M. R., Jabs, E. W., et al. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10567 · Cited by 21 · see citing works
Self-citation[An extensive form of mandibulo-facial dysostosis].
Genée, E. (1969) · PubMed · Cited by 20 · see citing works
Postaxial acrofacial dysostosis: Report on two patients
Pereira, S. C. S., Rocha, C. M. G., Guion‐Almeida, M. L., et al. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320440303 · Cited by 15 · see citing works
Analysis of the phenotypes exhibited by rudimentary-like mutants of Drosophila melanogaster
Conner, T. W., & Rawls, J. M. (1982) · Biochemical Genetics · doi:10.1007/bf00483960 · Cited by 12 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [16]Genee E Une forme extensive de dysostose mandibulo-faciale J Genet Hum 17 45 52 1969 5808539
Cited by
Sorted by citations
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works
Self-citationGenotype and SNP calling from next-generation sequencing data
Nielsen, R., Paul, J. S., Albrechtsen, A., & Song, Y. S. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2986 · Cited by 1,396 · see citing works
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235 · see citing works
Integrative omics for health and disease
Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158 · see citing works
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · see citing works
Rare-Variant Association Analysis: Study Designs and Statistical Tests
Lee, S., Abecasis, G. R., Boehnke, M., & Lin, X. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.06.009 · Cited by 1,042 · see citing works
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084 · see citing works
Self-citationDeep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965 · see citing works
A de novo paradigm for mental retardation.
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852 · see citing works
Exome Sequencing, <i>ANGPTL3</i> Mutations, and Familial Combined Hypolipidemia
Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1002926 · Cited by 754 · see citing works
Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761 · see citing works
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706 · see citing works
Self-citationThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643 · see citing works
Self-citationNosology and classification of genetic skeletal disorders: 2019 revision
Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61366 · Cited by 600 · see citing works
The Mitochondrial Proteome and Human Disease
Calvo, S. E., & Mootha, V. K. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141720 · Cited by 590 · see citing works
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Swaroop, A., Kim, D., & Forrest, D. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2880 · Cited by 560 · see citing works
The impact of next-generation sequencing on genomics
Zhang, J., Chiodini, R., Badr, A., & Zhang, G. (2011) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2011.02.003 · Cited by 577 · see citing works
“…strategy, the mutations in DHODH from four individuals from three unrelated families with Miller syndrome have been successfully identified (Ng et al., 2010a), illustrating that selective DNA enrichment techniques will dramatically reduce overall cost and accelerate discovery of genetic…”
BackgroundSykes, D. B., Kfoury, Y. S., Mercier, F. E., Wawer, M. J., Law, J. M., Haynes, M. K., Lewis, T. A., Schajnovitz, A., Jain, E., Lee, D., et al. (2016) · Cell · doi:10.1016/j.cell.2016.08.057 · Cited by 500 · see citing works
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., et al. (2010) · Nature Genetics · doi:10.1038/ng.581 · Cited by 489 · see citing works
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503 · see citing works
Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455 · see citing works
Next-generation diagnostics and disease-gene discovery with the Exomiser
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445 · see citing works
Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.579 · Cited by 374 · see citing works
National Heart, L., Boileau, C., Guo, D.-C., Hanna, N., Regalado, E. S., Detaint, D., Gong, L., Varret, M., Prakash, S. K., Li, A. H., et al. (2012) · Nature Genetics · doi:10.1038/ng.2348 · Cited by 382 · see citing works
Self-citationImproved exome prioritization of disease genes through cross-species phenotype comparison
Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research · doi:10.1101/gr.160325.113 · Cited by 375 · see citing works
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329 · see citing works
Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease
Wingo, T. S. (2012) · Archives of Neurology · doi:10.1001/archneurol.2011.221 · Cited by 265 · see citing works
Kaufman, K. M., Linghu, B., Szustakowski, J. D., Husami, A., Yang, F., Zhang, K., Filipovich, A. H., Fall, N., Harley, J. B., Nirmala, N. R., et al. (2014) · Arthritis & Rheumatology · doi:10.1002/art.38793 · Cited by 207 · see citing works
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10016-3 · Cited by 151 · see citing works
Guelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.12.003 · Cited by 143 · see citing works
Deriving genomic diagnoses without revealing patient genomes
Jagadeesh, K. A., Wu, D. J., Birgmeier, J. A., Boneh, D., & Bejerano, G. (2017) · Science · doi:10.1126/science.aam9710 · Cited by 134 · see citing works
Pires, D. E. V., Blundell, T. L., & Ascher, D. B. (2016) · Scientific Reports · doi:10.1038/srep29575 · Cited by 143 · see citing works
Chahrour, M. H., Yu, T. W., Lim, E. T., Ataman, B., Coulter, M. E., Hill, R. S., Stevens, C. R., Schubert, C. R., ARRA Autism Sequencing Collaboration, Greenberg, M. E., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002635 · Cited by 125 · see citing works
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Birgmeier, J., Haeussler, M., Deisseroth, C. A., Steinberg, E. H., Jagadeesh, K. A., Ratner, A. J., Guturu, H., Wenger, A. M., Diekhans, M. E., Stenson, P. D., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aau9113 · Cited by 118 · see citing works
Whole-genome sequencing of a laboratory-evolved yeast strain
Araya, C. L., Payen, C., Dunham, M. J., & Fields, S. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-88 · Cited by 113 · see citing works
Epi4K: Gene discovery in 4,000 genomes
The Epi4K Consortium (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03511.x · Cited by 85 · see citing works
Varum, S., Baggiolini, A., Zurkirchen, L., Atak, Z. K., Cantù, C., Marzorati, E., Bossart, R., Wouters, J., Häusel, J., Tuncer, E., et al. (2019) · Cell Stem Cell · doi:10.1016/j.stem.2019.03.011 · Cited by 65 · see citing works
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Ellard, S., Kivuva, E., Turnpenny, P., Stals, K., Johnson, M., Xie, W., Caswell, R., & Lango Allen, H. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.120 · Cited by 59 · see citing works
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio, G., Schulz, A., De Cegli, R., Savarese, M., Mutarelli, M., Parenti, G., Banfi, S., Braulke, T., Nigro, V., & Ballabio, A. (2015) · Autophagy · doi:10.1080/15548627.2015.1043077 · Cited by 62 · see citing works
Jagadeesh, K. A., Birgmeier, J., Guturu, H., Deisseroth, C. A., Wenger, A. M., Bernstein, J. A., & Bejerano, G. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0072-y · Cited by 56 · see citing works
Kukekova, A. V., Johnson, J. L., Teiling, C., Li, L., Oskina, I. N., Kharlamova, A. V., Gulevich, R. G., Padte, R., Dubreuil, M. M., Vladimirova, A. V., et al. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-482 · Cited by 57 · see citing works
AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders
Mao, D., Liu, C., Wang, L., AI-Ouran, R., Deisseroth, C., Pasupuleti, S., Kim, S. Y., Li, L., Rosenfeld, J. A., Meng, L., et al. (2024) · NEJM AI · doi:10.1056/aioa2300009 · Cited by 51 · see citing works
Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Krüger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., & Krawitz, P. M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1073 · Cited by 43 · see citing works
Alzheimer’s disease: rare variants with large effect sizes
Del-Aguila, J. L., Koboldt, D. C., Black, K., Chasse, R., Norton, J., Wilson, R. K., & Cruchaga, C. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.07.008 · Cited by 41 · see citing works
Albert, F. W., Hodges, E., Jensen, J. D., Besnier, F., Xuan, Z., Rooks, M., Bhattacharjee, A., Brizuela, L., Good, J. M., Green, R. E., et al. (2011) · Heredity · doi:10.1038/hdy.2011.4 · Cited by 28 · see citing works
Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the <i>KAT6B</i> related disorders
Bashir, R. A., Dixit, A., Goedhart, C., Parboosingh, J. S., Innes, A. M., Care for Rare Canada Consortium, Ferreira, P., Hasan, S. U., & Au, P. B. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38355 · Cited by 21 · see citing works
Multidisciplinary approach to genomics research in Africa: the AfriCRAN model
Azeez, B., Mossey, P., Tiffin, N., Adeyemo, W., Eshete, M., Chrispinanus, M., Audu, R., Chika, O., Pius, A., Mobolanle, O., et al. (2015) · Pan African Medical Journal · doi:10.11604/pamj.2015.21.229.7380 · Cited by 13 · see citing works
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors
Yoo, B., Birgmeier, J., Bernstein, J. A., & Bejerano, G. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01238-2 · Cited by 4 · see citing works
- Authors
- Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., Shendure, J., & Bamshad, M. J.
- Affiliations
- University of Washington (US)
- Seattle Children's Hospital (US)
- University of Utah (US)
- Institute for Systems Biology (US)
- Johns Hopkins University (US)
- Corresponding author
- Shendure, Jay
- Bamshad, Michael J
- ORCID
- Venue
- Nature Genetics
- Published
- 2009-11-13
- Volume
- 42
- Issue
- 1
- Pages
- 30-35
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2847889
- OpenAlex
- W2036210716
- Cited by
- 1,957
- References
- 32
- Citations by year
- 2026: 25 · 2025: 30 · 2024: 31 · 2023: 40 · 2022: 67 · 2021: 64 · 2020: 63 · 2019: 80 · 2018: 94 · 2017: 109 · 2016: 128 · 2015: 156 · 2014: 202 · 2013: 230 · 2012: 225
- FWCI
- 123.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Washington Research Foundation
- National Institutes of Health
- National Heart, Lung, and Blood Institute (R01HL094976)
- National Human Genome Research Institute (R21HG004749)
- National Institute of Child Health and Human Development
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- Miller syndrome, dihydroorotate dehydrogenase, monogenic disorders, exome resequencing, rare genetic disorders, candidate gene identification, monogenic traits
- MeSH terms
- Abnormalities, Multiple, Dihydroorotate Dehydrogenase, Amino Acid Sequence, Exons, Family Health, Female, Humans, Male, Mandibulofacial Dysostosis, Molecular Sequence Data, Mutation, Syndrome, Open Reading Frames, Sequence Homology, Amino Acid, Sequence Analysis, DNA, Genetic Predisposition to Disease, Oxidoreductases Acting on CH-CH Group Donors
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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