Quantifying the contribution of recessive coding variation to developmental disorders
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Abstract
Genetic architecture of developmental disorders: The genetics of developmental disorders (DDs) is complex. Martin et al. wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000 families in populations with high and low proportions of consanguineous marriages. They found that 3.6% of DDs in individuals of European ancestry involved recessive coding disorders, less than a tenth of the levels previously estimated. Furthermore, among South Asians with high parental relatedness, rather than most of the disorders arising from inherited variants, fewer than half had a recessive coding diagnosis. Science , this issue p. 1161
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Recessive variants account for up to 30% of cases in consanguineous families.
“Recessive variants account for a small fraction of idiopathic ASD (Gamsiz et al., 2013) and developmental delay, but they account for a larger proportion (up to 30%) of cases in consanguineous families (Martin et al., 2018).”
From Getting to the cores of autism (2019) · cites this paper as Martin et al., 2018
About 42-48% of patients with severe developmental disorder have a pathogenic de novo mutation in a protein-coding gene.
“It has previously been estimated that ~42-48% of patients with a severe developmental disorder (DD) have a pathogenic de novo mutation (DNM) in a protein coding gene1,2.”
From Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) · cites this paper as [2]
Known developmental-disorder-associated genes explain only a minority of the observed excess of de novo mutations.
“However, known DD-associated genes only account for a minority of the observed excess of such DNMs1,2.”
From Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) · cites this paper as [2]
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A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247 · see citing works
Self-citationWebLogo: A Sequence Logo Generator: Figure 1Preprint
Crooks, G. E., Hon, G. C., Chandonia, J., & Brenner, S. E. (2004) · Genome Research · doi:10.1101/gr.849004 · Cited by 12,433 · 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
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
RNA-Guided Human Genome Engineering via Cas9
Mali, P., Yang, L., Esvelt, K. M., Aach, J., Guell, M., DiCarlo, J. E., Norville, J. E., & Church, G. M. (2013) · Science · doi:10.1126/science.1232033 · Cited by 9,210 · see citing works
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · see citing works
Szklarczyk, D., Morris, J. H., Cook, H., Kuhn, M., Wyder, S., Simonovic, M., Santos, A., Doncheva, N. T., Roth, A., Bork, P., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw937 · Cited by 6,980 · see citing works
Krissinel, E., & Henrick, K. (2004) · Acta Crystallographica Section D Biological Crystallography · doi:10.1107/s0907444904026460 · Cited by 3,785 · see citing works
Synaptic, transcriptional and chromatin genes disrupted in autism
Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746 · see citing works
Self-citationThe contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works
Wright, C., Fitzgerald, T. W., Jones, W., Clayton, S., McRae, J., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., et al. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61705-0 · Cited by 1,794 · see citing works
Self-citationReconstructing Indian population history
Reich, D., Thangaraj, K., Patterson, N., Price, A. L., & Singh, L. (2009) · Nature · doi:10.1038/nature08365 · Cited by 1,674 · see citing works
Prevalence and architecture of de novo mutations in developmental disorders
Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · see citing works
Improved whole-chromosome phasing for disease and population genetic studies
Delaneau, O., Zagury, J., & Marchini, J. (2012) · Nature Methods · doi:10.1038/nmeth.2307 · Cited by 1,309 · see citing works
High-throughput discovery of novel developmental phenotypes
The International Mouse Phenotyping Consortium, Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., et al. (2016) · Nature · doi:10.1038/nature19356 · Cited by 1,196 · see citing works
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125 · see citing works
Large-scale discovery of novel genetic causes of developmental disorders
Study, T. D. D. D. (2015) · Nature · doi:10.1038/nature14135 · Cited by 1,124 · see citing works
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058 · see citing works
A framework for the interpretation of de novo mutation in human disease
Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979 · see citing works
Deep 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
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., et al. (2017) · Nature Genetics · doi:10.1038/ng.3970 · Cited by 875 · see citing works
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4524 · Cited by 844 · 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
Wordbank: an open repository for developmental vocabulary data
Frank, M. C., Braginsky, M., Yurovsky, D., & Marchman, V. A. (2016) · Journal of Child Language · doi:10.1017/s0305000916000209 · Cited by 717 · see citing works
Narasimhan, V. M., Danecek, P., Scally, A., Xue, Y., Tyler‐Smith, C., & Durbin, R. M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw044 · Cited by 703 · 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
Valdar, W. S. J. (2002) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.10146 · Cited by 633 · see citing works
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590 · see citing works
Common genetic variation drives molecular heterogeneity in human iPSCs
Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Culley, O. J., et al. (2017) · Nature · doi:10.1038/nature22403 · Cited by 586 · see citing works
Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4267 · Cited by 452 · see citing works
Self-citationGenetic disorders in children and young adults: a population study.
Baird, P. A., Anderson, T., Newcombe, H. B., & Lowry, R. B. (1988) · Europe PMC (PubMed Central) · Cited by 402 · see citing works
Model-free Estimation of Recent Genetic Relatedness
Conomos, M. P., Reiner, A. P., Weir, B. S., & Thornton, T. A. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.022 · Cited by 397 · see citing works
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., et al. (2016) · Nature Genetics · doi:10.1038/ng.3592 · Cited by 376 · see citing works
Berthiaume, L. G. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1414 · Cited by 367 · see citing works
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 365 · see citing works
Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.004 · Cited by 345 · see citing works
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
Ching, M. S. L., Shen, Y., Tan, W., Jeste, S., Morrow, E. M., Chen, X., Mukaddes, N. M., Yoo, S.-Y., Hanson, E. M., Hundley, R. J., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31063 · Cited by 298 · see citing works
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Faùndes, V., Newman, W. G., Bernardini, L., Canham, N. L. E., Clayton‐Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A. P., Gill, H., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.11.013 · Cited by 267 · see citing works
Self-citationSheridan, E. G., Wright, J., Small, N., Corry, P. C., Oddie, S., Whibley, C., Petherick, E., Malik, T., Pawson, N., McKinney, P. A., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(13)61132-0 · Cited by 255 · see citing works
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Yamamoto, G. L., Aguena, M., Goś, M., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103018 · Cited by 243 · see citing works
Bragin, E., Chatzimichali, E. A., Wright, C. F., Hurles, M. E., Firth, H. V., Bevan, A. P., & Swaminathan, G. J. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt937 · Cited by 233 · see citing works
Self-citationDisrupted Intricacy of Histone H3K4 Methylation in Neurodevelopmental Disorders
Vallianatos, C. N., & Iwase, S. (2015) · Epigenomics · doi:10.2217/epi.15.1 · Cited by 202 · see citing works
Klein, B. J., Piao, L., Xi, Y., Rincón‐Arano, H., Rothbart, S. B., Peng, D., Wen, H., Larson, C., Zhang, X., Xia, Z., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2013.12.021 · Cited by 181 · see citing works
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
Huang, A. Y.-W., Yu, D., Davis, L. K., Sul, J. H., Tsetsos, F., Ramensky, V. E., Zelaya, I., Ramos, E. M., Osiecki, L., Chen, J., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.06.010 · Cited by 176 · see citing works
Potential of Environmental Enrichment to Prevent Transgenerational Effects of Paternal Trauma
Gapp, K., Bohacek, J., Grossmann, J., Brunner, A. M., Manuella, F., Nanni, P., & Mansuy, I. M. (2016) · Neuropsychopharmacology · doi:10.1038/npp.2016.87 · Cited by 172 · see citing works
The promise of discovering population-specific disease-associated genes in South Asia
Nakatsuka, N. J., Moorjani, P., Rai, N., Sarkar, B., Tandon, A., Patterson, N. J., Bhavani, G. S., Girisha, K. M., Mustak, M. S., Srinivasan, S., et al. (2017) · Nature Genetics · doi:10.1038/ng.3917 · Cited by 166 · see citing works
Knapp, M. (1999) · The American Journal of Human Genetics · doi:10.1086/302285 · Cited by 165 · see citing works
Regulation of histone H3K4 methylation in brain development and disease
Shen, E., Shulha, H. P., Weng, Z., & Akbarian, S. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0514 · Cited by 165 · see citing works
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
Dias, C., Estruch, S. B., Graham, S. A., McRae, J. F., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S., Morton, J. E. V., Turner, C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.030 · Cited by 162 · see citing works
Self-citationMendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States
Fahrner, J. A., & Bjornsson, H. T. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090613-094245 · Cited by 161 · see citing works
Chong, J. X., McMillin, M. J., Shively, K. M., Beck, A. E., Marvin, C. T., Armenteros, J. R., Buckingham, K. J., Nkinsi, N. T., Boyle, E. A., Berry, M. N., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.01.003 · Cited by 157 · see citing works
study, T. D., Akawi, N. A., McRae, J. F., Ansari, M., Balasubramanian, M., Blyth, M., Brady, A. F., Clayton, S., Cole, T. R. P., Deshpande, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3410 · Cited by 153 · see citing works
Self-citationRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Gerber, S., Alzayady, K. J., Bürglen, L., Brémond‐Gignac, D., Marchesin, V., Roche, O., Rio, M., Funalot, B., Calmon, R., Dürr, A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.004 · Cited by 142 · see citing works
Albert, M., Schmitz, S. U., Kooistra, S. M., Malatesta, M., Morales, C., Rekling, J. C., Johansen, J. V., Abarrategui, I., & Helin, K. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003461 · Cited by 128 · see citing works
Alsayed, M. D., Alzaidan, H., AlBakheet, A., Hakami, H., Kenana, R., Alyafee, Y., Aldosary, M. S., Qari, A., Al‐Sheddi, T., Al-Muheiza, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.001 · Cited by 125 · see citing works
Csibi, A., Cornille, K., Leibovitch, M.-P., Anne Poupon, B., Tintignac, L. A. J., Sanchez, A. M. J., & Leibovitch, S. A. (2010) · PLoS ONE · doi:10.1371/journal.pone.0008994 · Cited by 121 · see citing works
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics · doi:10.1186/1471-2350-12-106 · Cited by 121 · see citing works
The large spectrum of eIF2B-related diseases
Fogli, A., & Boespflug‐Tanguy, O. (2006) · Biochemical Society Transactions · doi:10.1042/bst0340022 · Cited by 115 · see citing works
Autosomal recessive disorders among Arabs: an overview from Kuwait.
Teebi, A. S. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.3.224 · Cited by 106 · see citing works
McEntagart, M., Williamson, K. A., Rainger, J. K., Wheeler, A. P., Seawright, A., Baere, E. B. W. D., Verdin, H., Bergendahl, L. T., Quigley, A. J., Rainger, J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.018 · Cited by 101 · see citing works
Self-citationThe large spectrum of eIF2B-related diseases
Boespflug‐Tanguy, O., & Fogli, A. (2005) · Biochemical Society Transactions · doi:10.1042/bst20060022 · Cited by 99 · see citing works
Lal, D., Ruppert, A., Trucks, H., Schulz, H., de Kovel, C. G. F., Trenité, D. G. A. K.-N., Sonsma, A. C. M., Koeleman, B. P. C., Lindhout, D., Weber, Y. G., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005226 · Cited by 97 · see citing works
Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.007 · Cited by 95 · see citing works
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
Rainger, J., Pehli̇van, D., Johansson, S., Bengani, H., Sánchez‐Pulido, L., Williamson, K. A., Türe, M., Barker, H. S., Rosendahl, K., Spranger, J. W., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.005 · Cited by 91 · see citing works
Self-citationLowther, C., Speevak, M. D., Armour, C. M., Goh, E. S., Graham, G. E., Li, C. C., Zeesman, S., Nowaczyk, M. J. M., Schultz, L., Morra, A., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.54 · Cited by 91 · see citing works
Self-citationThe genetics of mental retardation
Raymond, F. L., & Tarpey, P. S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl189 · Cited by 88 · see citing works
Multiple Alignment of Protein Structures in Three Dimensions
Krissinel, E., & Henrick, K. (2005) · Lecture notes in computer science · doi:10.1007/11560500_7 · Cited by 80 · see citing works
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
Köroğlu, Ç., Seven, M., & Tolun, A. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101634 · Cited by 76 · see citing works
Zou, M. R., Cao, J. P., Liu, Z. Z., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.570853 · Cited by 56 · see citing works
Intellectual disability associated with a homozygous missense mutation in THOC6
Beaulieu, C. L., Huang, L., Innes, A. M., Akimenko, M., Puffenberger, E. G., Schwartz, C. E., Jerry, P., Ober, C., Hegele, R. A., McLeod, D. R., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-62 · Cited by 55 · see citing works
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Milev, M. P., Grout, M. E., Saint‐Dic, D., Cheng, Y.-H. H., Glass, I. A., Hale, C. J., Hanna, D. S., Dorschner, M. O., Prematilake, K., Shaag, A., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.07.006 · Cited by 51 · see citing works
Dijck, A. V., van der Werf, I. M., Reyniers, E., Scheers, S., Azage, M., Siefkas, K., der Aa, N. V., LaCroix, A. J., Rosenfeld, J. A., Argiropoulos, B., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.08.004 · Cited by 49 · see citing works
Carvill, G. L., & Mefford, H. C. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.03.004 · Cited by 48 · see citing works
Athanasakis, E., Licastro, D., Faletra, F., Fabretto, A., Dipresa, S., Vozzi, D., Morgan, A., D’Adamo, P., Pecile, V., Biarnés, X., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36274 · Cited by 47 · see citing works
Recurrence risks in mental retardation.
Crow, Y. J., & Tolmie, J. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.3.177 · Cited by 47 · see citing works
Shigehara, Y., Okuda, S., Nemer, G. M., et al. (2017) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2017.02.147 · Cited by 47 · see citing works
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data
Schrodi, S. J., DeBarber, A. E., He, M. M., Ye, Z., Peissig, P. L., Wormer, J. J. V., Haws, R. M., Brilliant, M. H., & Steiner, R. D. (2015) · Human Genetics · doi:10.1007/s00439-015-1551-8 · Cited by 42 · see citing works
Ben‐Shachar, S., Khajavi, M., Withers, M., Shaw, C. A., van Bokhoven, H., Brunner, H. G., & Lupski, J. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01114.x · Cited by 39 · see citing works
Ropers, H., & Wienker, T. F. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.10.007 · Cited by 35 · see citing works
Amos, J., Huang, L. S., Thévenon, J., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12793 · Cited by 35 · see citing works
Tawamie, H., Martianov, I., Wohlfahrt, N., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.032 · Cited by 34 · see citing works
Introduction to risk calculation in genetic counseling
Young, I. D. (1999) · doi:10.1093/oso/9780192629623.001.0001 · Cited by 31 · see citing works
Long, P. A., Theis, J. L., Shih, Y., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx169 · Cited by 28 · see citing works
A mutation in IFT43 causes non-syndromic recessive retinal degeneration
Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx356 · Cited by 27 · see citing works
LINS, a modulator of the WNT signaling pathway, is involved in human cognition
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Self-citation
- Authors
- 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., McRae, J. F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E. J., Akawi, N., Balasubramanian, M., Dean, J., Horton, R., Hulbert, A., Johnson, D. S., Johnson, K., Kumar, D., Lynch, S. A., Mehta, S. G., Morton, J., Parker, M. J., Splitt, M., Turnpenny, P. D., Vasudevan, P. C., Wright, M., Bassett, A., Gerety, S. S., Wright, C. F., FitzPatrick, D. R., Firth, H. V., Hurles, M. E., Barrett, J. C., & Study, O. B. O. T. D. D. D.
- Affiliations
- Wellcome Sanger Institute (GB)
- National Health Service (GB)
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
- European Bioinformatics Institute (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- University of Oxford (GB)
- Northern General Hospital (GB)
- Aberdeen Royal Infirmary (GB)
- Princess Anne Hospital (GB)
- Liverpool Women's Hospital (GB)
- Nottingham University Hospitals NHS Trust (GB)
- University Hospital of Wales (GB)
- Temple Street Children's University Hospital (IE)
- Birmingham Women's Hospital (GB)
- Sheffield Children's Hospital (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Leicester Royal Infirmary (GB)
- University of Exeter (GB)
- Western General Hospital (GB)
- Corresponding author
- Martin, Hilary C.
- Barrett, Jeffrey C.
- ORCID
- Martin, Hilary C.
- Jones, Wendy D.
- McIntyre, Rebecca
- Stephenson, James D.
- Jones, Carla P.
- Handsaker, Juliet
- Gallone, Giuseppe
- Bruntraeger, Michaela
- McRae, Jeremy F.
- Prigmore, Elena
- Short, Patrick
- Niemi, Mari
- Kaplanis, Joanna
- Radford, Elizabeth J.
- Akawi, Nadia
- Balasubramanian, Meena
- Dean, John
- Horton, Rachel
- Johnson, Diana S.
- Johnson, Katie
- Lynch, Sally Ann
- Mehta, Sarju G.
- Parker, Michael J.
- Splitt, Miranda
- Turnpenny, Peter D.
- Vasudevan, Pradeep C.
- Wright, Michael
- Bassett, Andrew
- Gerety, Sebastian S.
- Wright, Caroline F.
- FitzPatrick, David R.
- Firth, Helen V.
- Hurles, Matthew E.
- Barrett, Jeffrey C.
- Venue
- Science
- Published
- 2018-12-07
- Volume
- 362
- Issue
- 6419
- Pages
- 1161-1164
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC6726470
- OpenAlex
- W2762779950
- Cited by
- 201
- References
- 91
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 20 · 2023: 19 · 2022: 36 · 2021: 39 · 2020: 31 · 2019: 23 · 2018: 6
- FWCI
- 15.09
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by-nd
- Locations
- Science (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Open Research Exeter (University of Exeter) (acceptedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (WT098051)
- 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 › Genetics and Neurodevelopmental Disorders
- Keywords
- developmental disorders, recessive inheritance, consanguinity, genetic architecture, exome sequencing, European ancestry, South Asian populations, heritability
- MeSH terms
- Animals, Developmental Disabilities, Disease Models, Animal, Europe, Genes, Recessive, Genetic Code, Humans, Nuclear Proteins, Pakistan, Phylogeny, Repressor Proteins, Genetic Variation, Penetrance, Eukaryotic Initiation Factor-3, Mice, Genome-Wide Association Study, Jumonji Domain-Containing Histone Demethylases
About these checks
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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