The Genetic Landscape of Diamond-Blackfan Anemia
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Abstract
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this heterogeneous disorder, we recruited a cohort of 472 individuals with a clinical diagnosis of DBA and performed whole-exome sequencing (WES). We identified relevant rare and predicted damaging mutations for 78% of individuals. The majority of mutations were singletons, absent from population databases, predicted to cause loss of function, and located in 1 of 19 previously reported ribosomal protein (RP)-encoding genes. Using exon coverage estimates, we identified and validated 31 deletions in RP genes. We also observed an enrichment for extended splice site mutations and validated their diverse effects using RNA sequencing in cell lines obtained from individuals with DBA. Leveraging the size of our cohort, we observed robust genotype-phenotype associations with congenital abnormalities and treatment outcomes. We further identified rare mutations in seven previously unreported RP genes that may cause DBA, as well as several distinct disorders that appear to phenocopy DBA, including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2. However, no new genes were identified at exome-wide significance, suggesting that there are no unidentified genes containing mutations readily identified by WES that explain >5% of DBA-affected case subjects. Overall, this report should inform not only clinical practice for DBA-affected individuals, but also the design and analysis of rare variant studies for heterogeneous Mendelian disorders.
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Diamond-Blackfan anemia is a rare disorder characterized by impaired erythropoiesis; most patients have loss-of-function mutations in one of twenty-six distinct ribosome protein genes.
“For instance, Diamond-Blackfan anemia (DBA) is a rare disorder that is characterized by impaired erythropoiesis; most patients have loss-of-function mutations in one of twenty-six distinct ribosome protein genes (Ulirsch et al., 2018).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Ulirsch et al., 2018
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STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works
RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome
Li, B., & Dewey, C. N. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-323 · Cited by 22,179 · see citing works
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-citationThe PyMOL Molecular Graphics System
DeLano, W. L. (2002) · Medical Entomology and Zoology · Cited by 18,147 · 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
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
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
Self-citationIntegrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049 · 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
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183 · see citing works
Full-length RNA-seq from single cells using Smart-seq2
Picelli, S., Faridani, O. R., Björklund, Å. K., Winberg, G., Sagasser, S., & Sandberg, R. (2014) · Nature Protocols · doi:10.1038/nprot.2014.006 · Cited by 4,137 · see citing works
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A. S., Ward, P. A., Braxton, A. A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,954 · see citing works
Scaling accurate genetic variant discovery to tens of thousands of samplesPreprint
Poplin, R. E., Ruano-Rubio, V., DePristo, M. A., Fennell, T. J., Carneiro, M. O., der Auwera, G. A. V., Kling, D. E., Gauthier, L. D., Levy‐Moonshine, A., Roazen, D., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/201178 · Cited by 1,891 · see citing works
Self-citationClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero‐Rivera, F., Das, K., Toy, T. L., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 973 · see citing works
Liu, X., Wu, C., Li, C., & Boerwinkle, E. (2015) · Human Mutation · doi:10.1002/humu.22932 · Cited by 957 · see citing works
Visualizing Genomic Data Using Gviz and Bioconductor
Hahne, F., & Ivánek, R. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3578-9_16 · Cited by 893 · see citing works
Jagadeesh, K. A., Wenger, A. M., Berger, M. J., Guturu, H., Stenson, P. D., Cooper, D. N., Bernstein, J. A., & Bejerano, G. (2016) · Nature Genetics · doi:10.1038/ng.3703 · Cited by 831 · see citing works
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aal5209 · Cited by 831 · see citing works
Self-citationThe gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., et al. (1999) · Nature Genetics · doi:10.1038/5951 · Cited by 795 · see citing works
Buck, D., Malivert, L., de Chasseval, R., Barraud, A., Fondanèche, M.-C., Sanal, O., Plebani, A., Stéphan, J.-L., Hufnagel, M., le Deist, F., et al. (2006) · Cell · doi:10.1016/j.cell.2005.12.030 · Cited by 722 · see citing works
Fisher, S., Barry, A. J., Abreu, J., Minie, B., Nolan, J., Delorey, T. M., Young, G., Fennell, T. J., Allen, A., Ambrogio, L., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-1-r1 · Cited by 683 · see citing works
Self-citationDiscovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., Handsaker, R. E., McCarroll, S. A., O’Donovan, M. C., Owen, M. J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.005 · Cited by 567 · see citing works
Self-citationVlachos, A., Ball, S. E., Dahl, N., Alter, B. P., Sheth, S., Ramenghi, U., Meerpohl, J. J., Karlsson, S., Liu, J. M., Leblanc, T. M., et al. (2008) · British Journal of Haematology · doi:10.1111/j.1365-2141.2008.07269.x · Cited by 474 · see citing works
Self-citationQuantifying prion disease penetrance using large population control cohorts
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad5169 · Cited by 442 · see citing works
Self-citationGEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
Paila, U., Chapman, B., Kirchner, R., & Quinlan, A. R. (2013) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003153 · Cited by 423 · see citing works
Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O’Donohue, M.-F., Schneider, H. E., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.11.004 · Cited by 417 · see citing works
Self-citationRibosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis
Khajuria, R. K., Munschauer, M., Ulirsch, J. C., Fiorini, C., Ludwig, L. S., McFarland, S. K., Abdulhay, N. J., Specht, H., Keshishian, H., Mani, D. R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.036 · Cited by 416 · see citing works
Large multiallelic copy number variations in humans
Handsaker, R. E., Doren, V. V., Berman, J. R., Genovese, G., Kashin, S., Boettger, L. M., & McCarroll, S. A. (2015) · Nature Genetics · doi:10.1038/ng.3200 · Cited by 382 · see citing works
Self-citationVisualization of chemical modifications in the human 80S ribosome structure
Natchiar, S. K., Myasnikov, A. G., Kratzat, H., Hazemann, I., & Klaholz, B. P. (2017) · Nature · doi:10.1038/nature24482 · Cited by 364 · see citing works
Regional missense constraint improves variant deleteriousness prediction
Samocha, K. E., Kosmicki, J. A., Karczewski, K. J., O’Donnell-Luria, A. H., Pierce-Hoffman, E., MacArthur, D. G., Neale, B. M., & Daly, M. J. (2017) · doi:10.1101/148353 · Cited by 351 · see citing works
Self-citationExome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63597 · Cited by 342 · see citing works
Bykhovskaya, Y., Casas, K. A., Mengesha, E., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421530 · Cited by 319 · see citing works
Altered translation of GATA1 in Diamond-Blackfan anemia
Ludwig, L. S., Gazda, H. T., Eng, J. C., Eichhorn, S. W., Thiru, P., Ghazvinian, R., George, T. I., Gotlib, J. R., Beggs, A. H., Sieff, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3557 · Cited by 302 · see citing works
Self-citationGuernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.359 · Cited by 244 · see citing works
Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy
Pedersen, B. S., & Quinlan, A. R. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.017 · Cited by 237 · see citing works
The ribosomal basis of diamond-blackfan anemia: mutation and database update
Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., et al. (2010) · Human Mutation · doi:10.1002/humu.21383 · Cited by 233 · see citing works
Self-citationHigh-resolution cryo-EM structure of the human 80S ribosome
Natchiar, S. K., Myasnikov, A. G., Kratzat, H., Hazemann, I., & Klaholz, B. P. (2017) · Worldwide Protein Data Bank · doi:10.2210/pdb6ek0/pdb · Cited by 225 · see citing works
Natural Selection on Genes that Underlie Human Disease Susceptibility
Blekhman, R., Man, O., Herrmann, L., Boyko, A. R., Indap, A. R., Kosiol, C., Bustamante, C. D., Teshima, K. M., & Przeworski, M. (2008) · Current Biology · doi:10.1016/j.cub.2008.04.074 · Cited by 222 · see citing works
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
Gray, V. E., Hause, R. J., Luebeck, J., Shendure, J., & Fowler, D. M. (2017) · Cell Systems · doi:10.1016/j.cels.2017.11.003 · Cited by 205 · see citing works
Diamond, L., Wang, W., & Alter, B. P. (2009) · Nutrition Reviews · doi:10.1111/j.1753-4887.1957.tb00552.x · Cited by 182 · see citing works
An informatics approach to analyzing the incidentalome
Berg, J., Adams, M. C., Nassar, N., Bizon, C., Lee, K., Schmitt, C., Wilhelmsen, K., & Evans, J. P. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.112 · Cited by 175 · see citing works
Diamond, L. K., WANG, W. C., & Alter, B. P. (1975) · Advances in Pediatrics · doi:10.1016/s0065-3101(22)00757-5 · Cited by 170 · see citing works
Guo, M. H., Plummer, L., Chan, Y.-M., Hirschhorn, J. N., & Lippincott, M. F. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.08.016 · Cited by 169 · see citing works
Self-citationGripp, K. W., Curry, C. J., Olney, A. H., Sandoval, C., Fisher, J., Chong, J. X., Pilchman, L., Sahraoui, R., Stabley, D. L., & Sol‐Church, K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36633 · Cited by 152 · see citing works
Fernández‐Vizarra, E., Berardinelli, A. L., Valente, L., Tiranti, V., & Zeviani, M. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.045252 · Cited by 148 · see citing works
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Farrar, J. E., Vlachos, A., Atsidaftos, E., Carlson-Donohoe, H., Markello, T. C., Arceci, R. J., Ellis, S. R., Lipton, J. M. M., & Bodine, D. M. (2011) · Blood · doi:10.1182/blood-2011-08-375170 · Cited by 142 · see citing works
Self-citationBergmann, A. K., Campagna, D. R., McLoughlin, E. M., Agarwal, S., Fleming, M. D., Bottomley, S. S., & Neufeld, E. J. (2009) · Pediatric Blood & Cancer · doi:10.1002/pbc.22244 · Cited by 139 · see citing works
Ensemble cryo-EM uncovers inchworm-like translocation of a viral IRES through the ribosome
Abeyrathne, P. D., Koh, C. S., Grant, T., Grigorieff, N., & Korostelev, A. A. (2016) · eLife · doi:10.7554/elife.14874 · Cited by 134 · see citing works
Self-citationKastner, D. L., Zhou, Q., & Aksentijevich, I. A. (2014) · New England Journal of Medicine · doi:10.1056/nejmc1405506 · Cited by 133 · see citing works
Smith, H. S., Swint, J. M., Lalani, S. R., Yamal, J., Otto, M. C. D. O., Castellanos, S., Taylor, A. N., Lee, B., & Russell, H. V. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0024-6 · Cited by 133 · see citing works
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency
Ben‐Ami, T., Revel‐Vilk, S., Brooks, R. A., Shaag, A., Hershfield, M. S., Kelly, S. J., Ganson, N. J., Kfir‐Erenfeld, S., Weintraub, M., Elpeleg, O. N., et al. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.06.058 · Cited by 114 · see citing works
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation
Kim, A. R., Ulirsch, J. C., Wilmes, S., Ünal, E., Moraga, I., Karakükçü, M., Yuan, D., Kazerounian, S., Abdulhay, N. J., King, D., et al. (2017) · Cell · doi:10.1016/j.cell.2017.02.026 · Cited by 114 · see citing works
Self-citationWang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato‐Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., et al. (2014) · British Journal of Haematology · doi:10.1111/bjh.13229 · Cited by 103 · see citing works
Mirabello, L. J., Macari, E. R., Jessop, L., Ellis, S. R., Myers, T. A., Giri, N., Taylor, A. M., McGrath, K. E., Humphries, J. M., Ballew, B. J., et al. (2014) · Blood · doi:10.1182/blood-2013-11-540278 · Cited by 99 · see citing works
Guen, T. L., Touzot, F., André‐Schmutz, I., Lagresle‐Peyrou, C., France, B., Kermasson, L., Lambert, N., Pïcard, C., Nitschké, P., Carpentier, W., et al. (2015) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.06.008 · Cited by 94 · see citing works
Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia
Fargo, J. H., Kratz, C. P., Giri, N., Savage, S. A., Wong, C. V., Backer, K., Alter, B. P., & Glader, B. E. (2012) · British Journal of Haematology · doi:10.1111/bjh.12167 · Cited by 84 · see citing works
Self-citationBone Marrow Transplantation for Diamond-Blackfan Anemia
Roy, V., Pérez, W. S., Eapen, M., et al. (2005) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2005.05.005 · Cited by 83 · see citing works
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2
Hashem, H., Egler, R. A., & Dalal, J. D. (2017) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000000805 · Cited by 82 · see citing works
Mirabello, L. J., Khincha, P. P., Ellis, S. R., Giri, N., Brodie, S. A., Chandrasekharappa, S. C., Donovan, F. X., Zhou, W., Hicks, B. D., Boland, J. F., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104346 · Cited by 82 · see citing works
Gustavsson, P., Garelli, E., Draptchinskaia, N., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302100 · Cited by 77 · see citing works
Bahrami, E., Witzel, M., Racek, T., Puchałka, J., Hollizeck, S., Kohistani, N., Kotlarz, D., Horny, H., Feederle, R., Schmidt, H., et al. (2017) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.10.053 · Cited by 74 · see citing works
Two-pass alignment improves novel splice junction quantification
Veeneman, B. A., Shukla, S. K., Dhanasekaran, S. M., Chinnaiyan, A. M., & Nesvizhskii, A. I. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv642 · Cited by 72 · see citing works
Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19
Gregory, L., Aguissa-Touré, A.-H., Pinaud, N., et al. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm626 · Cited by 69 · see citing works
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Costa, L. D. D., O'Donohue, M., van Dooijeweert, B., Albrecht, K., Unal, S., Ramenghi, U., Leblanc, T., Dianzani, I., Tamary, H., Bartels, M., et al. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.10.017 · Cited by 68 · see citing works
Self-citationMolecular mechanisms of pathology and treatment in D iamond B lackfan A naemia
Horos, R., & Lindern, M. V. (2012) · British Journal of Haematology · doi:10.1111/bjh.12058 · Cited by 60 · see citing works
Exploiting pre‐rRNA processing in D iamond B lackfan anemia gene discovery and diagnosis
Farrar, J. E., Quarello, P., Fisher, R. O., O'Brien, K. A., Aspesi, A., Parrella, S., Henson, A. L., Seidel, N. E., Atsidaftos, E., Prakash, S., et al. (2014) · American Journal of Hematology · doi:10.1002/ajh.23807 · Cited by 59 · see citing works
Self-citationAlsultan, A. S., Shamseldin, H. E., Osman, M. E., et al. (2013) · Blood · doi:10.1182/blood-2013-09-527127 · Cited by 58 · see citing works
Fernández‐Vizarra, E., Berardinelli, A. L., Valente, L., Tiranti, V., & Zeviani, M. (2009) · BMJ Case Reports · doi:10.1136/bcr.05.2009.1889 · Cited by 57 · see citing works
Quarello, P., Garelli, E., Brusco, A., et al. (2012) · Haematologica · doi:10.3324/haematol.2012.062281 · Cited by 55 · see citing works
Analyzing Copy Number Variation with Droplet Digital PCR
Bell, A. D., Usher, C. L., & McCarroll, S. A. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7778-9_9 · Cited by 54 · see citing works
Self-citationRecurrent GATA 1 mutations in D iamond‐ B lackfan anaemia
Klar, J., Khalfallah, A., Shaiq, P. A., Gazda, H. T., & Dahl, N. (2014) · British Journal of Haematology · doi:10.1111/bjh.12919 · Cited by 48 · see citing works
Self-citationWat, M. J., Enciso, V. B., Wiszniewski, W. K., Resnick, T., Bader, P. I., Roeder, E. R., Freedenberg, D. L., Brown, C., Stankiewicz, P., Cheung, S. W., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.075903 · Cited by 46 · see citing works
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders
Guo, M. H., Dauber, A. N., Lippincott, M. F., Chan, Y.-M., Salem, R. M., & Hirschhorn, J. N. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.06.031 · Cited by 45 · see citing works
Self-citationVlachos, A., Osorio, D. S., Atsidaftos, E., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/circgenetics.117.002044 · Cited by 44 · see citing works
Self-citationA new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
Boria, I., Quarello, P., Avondo, F., et al. (2008) · Human Mutation · doi:10.1002/humu.20864 · Cited by 43 · see citing works
Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia
Arbiv, O. A., Cuvelier, G. D. E., Klaassen, R. J., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13158 · Cited by 36 · see citing works
Molecular convergence in ex vivo models of Diamond-Blackfan anemia
O'Brien, K. A., Farrar, J. E., Vlachos, A., Anderson, S. M., Tsujiura, C., Lichtenberg, J., Blanc, L., Atsidaftos, E., Elkahloun, A. G., An, X., et al. (2017) · Blood · doi:10.1182/blood-2017-01-760462 · Cited by 35 · see citing works
Self-citationHashem, H., Vatsayan, A., Gupta, A. O., et al. (2017) · Bone Marrow Transplantation · doi:10.1038/bmt.2017.173 · Cited by 27 · see citing works
Steinberg‐Shemer, O., Ulirsch, J. C., Noy‐Lotan, S., Krasnov, T., Attias, D., Dgany, O., Laor, R., Sankaran, V. G., & Tamary, H. (2017) · Molecular Case Studies · doi:10.1101/mcs.a001941 · Cited by 20 · see citing works
Self-citationCarlston, C. M., Afify, Z., Palumbos, J. C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38360 · Cited by 20 · see citing works
Pearson syndrome in a Diamond-Blackfan anemia cohort
Alter, B. P. (2014) · Blood · doi:10.1182/blood-2014-04-571687 · Cited by 10 · see citing works
Confounding in ex vivo models of Diamond-Blackfan anemia
Ulirsch, J. C., Lareau, C. A., Ludwig, L. S., Mohandas, N., Nathan, D. G., & Sankaran, V. G. (2017) · Blood · doi:10.1182/blood-2017-05-783191 · Cited by 10 · see citing works
Self-citationNarla, A., Davis, N. L., Lavasseur, C. M., Wong, C. V., & Glader, B. E. (2016) · American Journal of Hematology · doi:10.1002/ajh.24541 · Cited by 9 · see citing works
Self-citationNarla, A., Yuan, D., Kazerounian, S., Lavasseur, C. M., Ulirsch, J. C., Narla, J., Glader, B. E., Sankaran, V. G., & Gazda, H. T. (2016) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2016.08.001 · Cited by 9 · see citing works
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Szvetnik, E. A., Klemann, C., Hainmann, I., et al. (2017) · Blood · doi:10.1182/blood.v130.suppl_1.874.874 · Cited by 7 · see citing works
Reduced translation of GATA1 in Diamond-Blackfan anemia
Boultwood, J., & Pellagatti, A. (2014) · Nature Medicine · doi:10.1038/nm.3630 · Cited by 6 · see citing works
Exome Sequencing Comes to the Clinic
Lewis, R. (2015) · JAMA · doi:10.1001/jama.2015.1389 · Cited by 6 · see citing works
Many rare genetic variants have unrecognized large-effect disruptions to exon recognitionPreprint
Cheung, R., Insigne, K. D., Yao, D., Burghard, C. P., Jones, E. M., Goodman, D. B., & Kosuri, S. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/199927 · Cited by 4 · see citing works
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Research works printed but not linked: 1
- Lord, J., Gallone, G., Short, P.J., McRae, J.F., Ironfield, H., Wynn, E.H., Gerety, S.S., He, L., Kerr, B., Johnson, D.S., et al. (2018). The contribution of non-canonical splicing mutations to severe dominant developmental disorders. bioRxiv. https:// doi.org/10.1101/256636. · DOI
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Crow, M., Lim, N., Ballouz, S., Pavlidis, P., & Gillis, J. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1802973116 · Cited by 117 · see citing works
- Authors
- Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., Lim, E. T., Cheng, A., Cummings, B. B., Chao, K. R., Beggs, A. H., Genetti, C. A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Vlachos, A., Lipton, J. M., Atsidaftos, E., Glader, B., Narla, A., Gleizes, P.-E., O’Donohue, M.-F., Montel-Lehry, N., Amor, D. J., McCarroll, S. A., O’Donnell-Luria, A. H., Gupta, N., Gabriel, S. B., MacArthur, D. G., Lander, E. S., Lek, M., Da Costa, L., Nathan, D. G., Korostelev, A. A., Do, R., Sankaran, V. G., & Gazda, H. T.
- Affiliations
- Broad Institute (US)
- Boston Children's Hospital (US)
- University of Massachusetts Chan Medical School (US)
- Medical University of Warsaw (PL)
- Feinstein Institute for Medical Research (US)
- Stanford Medicine (US)
- Centre National de la Recherche Scientifique (FR)
- The University of Melbourne (AU)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Sankaran, Vijay G.
- Gazda, Hanna T.
- ORCID
- Ulirsch, Jacob C.
- Verboon, Jeffrey M.
- Guo, Michael H.
- Ludwig, Leif S.
- Handsaker, Robert E.
- Abdulhay, Nour J.
- Fiorini, Claudia
- Genovese, Giulio
- Lim, Elaine T.
- Cheng, Aaron
- Cummings, Beryl B.
- Chao, Katherine R.
- Beggs, Alan H.
- Genetti, Casie A.
- Sieff, Colin A.
- Newburger, Peter E.
- Niewiadomska, Edyta
- Matysiak, Michal
- Vlachos, Adrianna
- Lipton, Jeffrey M.
- Glader, Bertil
- Narla, Anupama
- Gleizes, Pierre-Emmanuel
- O’Donohue, Marie-Françoise
- Amor, David J.
- McCarroll, Steven A.
- Gupta, Namrata
- Gabriel, Stacey B.
- MacArthur, Daniel G.
- Lander, Eric S.
- Lek, Monkol
- Korostelev, Andrei A.
- Do, Ron
- Sankaran, Vijay G.
- Gazda, Hanna T.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2018-12
- Volume
- 103
- Issue
- 6
- Pages
- 930-947
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC6288280
- OpenAlex
- W2952358073
- Cited by
- 272
- References
- 88
- Citations by year
- 2026: 25 · 2025: 29 · 2024: 27 · 2023: 32 · 2022: 38 · 2021: 46 · 2020: 49 · 2019: 23 · 2018: 2 · 2017: 1
- FWCI
- 18.40
- Type
- journal article
- Language
- en
- Update notices
- erratum (2019-02-07)
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- National Institutes of Health (R01 DK103794, R33 HL120791, R01 HL107558, K02 HL111156, UM1 HG008900, R01 HG009141)
- DBA Foundation
- New York Stem Cell Foundation
- ANR
- ERA-NET programme E-RARE3 (ANR-15-RAR3-0007-04)
- NIH (5T32 GM007226-43)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Diamond-Blackfan anemia, bone marrow failure, ribosomal protein genes, ribosome, genotype-phenotype correlation, CECR1, ADA2 deficiency, phenocopy, splice site mutation, gene deletion, congenital malformations, treatment outcomes, monogenic disorders
- MeSH terms
- Exome Sequencing, Adolescent, Child, Child, Preschool, Exons, Female, Humans, Male, Mutation, Phenotype, Ribosomal Proteins, Ribosomes, Cohort Studies, Gene Deletion, Sequence Analysis, RNA, Anemia, Diamond-Blackfan, Intercellular Signaling Peptides and Proteins, Genetic Association Studies, Exome
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.
What counts as a claim ›How we measure confidence ›How we check this ›
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