Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
Open accessAbstract
Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow's milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR).
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
A deletion at 1q21.1 has been reported in TAR syndrome.
“The first is a deletion at 1q21.1 reported in TAR syndrome37”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [37]
Cites
Pinkel, D., Segraves, R., Sudar, D., Clark, S. M., Poole, I., Kowbel, D., Collins, C. C., Kuo, W.-L., Chen, C., Zhai, Y., et al. (1998) · Nature Genetics · doi:10.1038/2524 · Cited by 2,238 · see citing works
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
Solinas‐Toldo, S., Lampel, S., Stilgenbauer, S., Nickolenko, J., Benner, A., Döhner, H., Cremer, T. J., & Lichter, P. (1997) · Genes Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(199712)20:4 · Cited by 993 · see citing works
Fine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 991 · see citing works
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works
The Stat family in cytokine signaling
Ihle, J. N. (2001) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(00)00199-x · Cited by 713 · see citing works
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655 · see citing works
A tiling resolution DNA microarray with complete coverage of the human genome
Ishkanian, A., Malloff, C. A., Watson, S. K., deLeeuw, R. J., Chi, B., Coe, B. P., Snijders, A. M., Albertson, D. G., Pinkel, D., Marra, M. A., et al. (2004) · Nature Genetics · doi:10.1038/ng1307 · Cited by 624 · see citing works
Fiegler, H., Carr, P., Douglas, E. J., Burford, D. C., Hunt, S. E., Smith, J. A., Vetrie, D. L. P., Gorman, P. A., Tomlinson, I. P. M., & Carter, N. P. (2003) · Genes Chromosomes and Cancer · doi:10.1002/gcc.10155 · Cited by 466 · see citing works
Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., et al. (2005) · Nature Genetics · doi:10.1038/ng1548 · Cited by 377 · see citing works
Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly
Ming, J. E., & Muenke, M. (2002) · The American Journal of Human Genetics · doi:10.1086/344412 · Cited by 310 · see citing works
THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)
Hall, J. G., LEVIN, J., Kuhn, J. P., Ottenheimer, E. J., van BERKUM, K. A. P., & McKusick, V. A. (1969) · Medicine · doi:10.1097/00005792-196948060-00001 · Cited by 307 · see citing works
Self-citationA bacterial artificial chromosome library for sequencing the complete human genome.Preprint
Osoegawa, K., Mammoser, A. G., Wu, C.-Y., Frengen, E., Zeng, C., Catanese, J., & de Jong, P. (2001) · Genome Research · doi:10.1101/gr.169601 · Cited by 302 · see citing works
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis, N., Ansley, S., Badano, J., Eichers, E., Ra, L., Hoskins, B., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski (2002) · UCL Discovery (University College London) · Cited by 240 · see citing works
Thrombocytopenia-absent radius syndrome: a clinical genetic study
Greenhalgh, K. L., Howell, R. T., Bottani, A., Ancliff, P., Brunner, H. G., Verschuuren-Bemelmans, C. C., Vernon, E., Brown, K. W., & Newbury-Ecob, R. A. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.12.876 · Cited by 187 · see citing works
Self-citationRaslova, H., Komura, E., Le Couédic, J. P., Larbret, F., Debili, N., Feunteun, J., Danos, O., Albagli, O., Vainchenker, W., & Favier, R. (2004) · Journal of Clinical Investigation · doi:10.1172/jci21197 · Cited by 174 · see citing works
Ezumi, Y., Takayama, H., & Okuma, M. (1995) · FEBS Letters · doi:10.1016/0014-5793(95)01072-m · Cited by 144 · see citing works
Thrombocytopenia and absent radius (TAR) syndrome.
Hall, J. G. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.2.79 · Cited by 137 · see citing works
Self-citationBallmaier, M., Schulze, H., Strauβ, G., Cherkaoui, K., Wittner, N., Lynen, S., Wolters, S., Bogenberger, J., & Welte, K. (1997) · Blood · doi:10.1182/blood.v90.2.612 · Cited by 130 · see citing works
Self-citationRödel, B., Tavassoli, K., Karsunky, H., Schmidt, T., Bachmann, M., Schaper, F., Heinrich, P. C., Shuai, K., Elsässer, H. P., & Möröy, T. (2000) · The EMBO Journal · doi:10.1093/emboj/19.21.5845 · Cited by 130 · see citing works
Miura, Y., Hiura, M., Torigoe, K., Numata, O., Kuwahara, A., Matsunaga, M., Hasegawa, S., Boku, N., Matsuda, I., Ino, H., et al. (2000) · Human Genetics · doi:10.1007/s004390000369 · Cited by 126 · see citing works
A set of BAC clones spanning the human genome
Krzywinski, M. I. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh700 · Cited by 125 · see citing works
Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
Beales, P. L. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.04.006 · Cited by 121 · see citing works
CGHPRO – A comprehensive data analysis tool for array CGH
Chen, W., Erdogan, F., Ropers, H.-H., Lenzner, S., & Ullmann, R. (2005) · BMC Bioinformatics · doi:10.1186/1471-2105-6-85 · Cited by 103 · see citing works
Self-citationSidow, A., Bulotsky, M. S., Kerrebrock, A. W., Birren, B. W., Altshuler, D., Jaenisch, R., Johnson, K. R., & Lander, E. S. (1999) · Nature Genetics · doi:10.1038/12709 · Cited by 91 · see citing works
The Land Between Mendelian and Multifactorial Inheritance
Burghes, A. H. M., Vaessin, H., & de la Chapelle, A. (2001) · Science · doi:10.1126/science.1065930 · Cited by 76 · see citing works
Letestu, R., Vitrat, N., Massé, A., Couedic, J. P. L., Lazar, V., Rameau, P., Wendling, F., Vuillier, J., Boutard, P., Plouvier, E., et al. (2000) · PubMed · doi:10.1182/blood.v95.5.1633.005k25_1633_1641 · Cited by 71 · see citing works
Erdogan, F., Chen, W., Kirchhoff, M., Kalscheuer, V. M., Hultschig, C., Müller, I., Schulz, R.-R., Menzel, C., Bryndorf, T., Ropers, H. H., et al. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095921 · Cited by 69 · see citing works
Self-citationMapping the Mouse Dactylaplasia Mutation,Dac,and a Gene That Controls Its Expression,mdac
Johnson, K. R., LANE, P. W., Ward‐Bailey, P. F., & Davisson, M. T. (1995) · Genomics · doi:10.1006/geno.1995.9981 · Cited by 62 · see citing works
Determinants of parental decisions after the prenatal diagnosis of Down syndrome
Kramer, R. L., Jarve, R. K., Yaron, Y., Johnson, M. P., Lampinen, J., Kasperski, S. B., & Evans, M. I. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980923)79:3 · Cited by 52 · see citing works
Chai, C. K. (1981) · Journal of Heredity · doi:10.1093/oxfordjournals.jhered.a109486 · Cited by 51 · see citing works
Geddis, A. E. (2006) · Seminars in Hematology · doi:10.1053/j.seminhematol.2006.04.003 · Cited by 48 · see citing works
Schulze, H., Ballmaier, M., Welte, K., & Germeshausen, M. (2000) · Experimental Hematology · doi:10.1016/s0301-472x(99)00154-x · Cited by 46 · see citing works
Self-citationStrippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Giordano, P., D’Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., et al. (1998) · British Journal of Haematology · doi:10.1046/j.1365-2141.1998.00991.x · Cited by 43 · see citing works
Thrombocytopenia with absent radius in a boy and his uncle
Schnur, R. E., Eunpu, D. L., Zackai, E. H., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320280117 · Cited by 27 · see citing works
Fleischman, R. A., Letestu, R., Mi, X., Stevens, D. B., Winters, J. L., Debili, N., & Vainchenker, W. (2002) · British Journal of Haematology · doi:10.1046/j.1365-2141.2002.03263.x · Cited by 26 · see citing works
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
Klopocki, E., Fiebig, B. S., Robinson, P. N., Tönnies, H., Erdogan, F., Ropers, H., Mundlos, S., & Ullmann, R. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31163 · Cited by 25 · see citing works
Self-citationParent to child transmission of the thrombocytopenia absent radius (TAR) syndrome
Ward, R. E., Bixler, D., Provisor, A. J., Bader, P. I., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320250625 · Cited by 25 · see citing works
Defective c‐Mpl signaling in the syndrome of thrombocytopenia with absent radii
Ballmaier, M., Schulze, H., Cremer, M., Strauß, G., Welte, K., & Folman, C. C. (1998) · Stem Cells · doi:10.1002/stem.5530160720 · Cited by 24 · see citing works
Self-citationZeng, W., Gao, H., Brueton, L. A., Hutchin, T. P., Gray, G., Chakrapani, A., Olpin, S. E., & Shih, V. E. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31186 · Cited by 23 · see citing works
Cloning and expression analysis of chicken Lix1 , a founding member of a novel gene family
Swindell, E. C., Moeller, C., Christina Thaller, B., & Gregor Eichele, C. (2001) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00535-4 · Cited by 20 · see citing works
A case of autism and uniparental disomy of chromosome 1
Wassink, T. H., Losh, M. C., Frantz, R. S., Vieland, V. J., Goedken, R. J., Piven, J., & Sheffield, V. C. (2005) · Human Genetics · doi:10.1007/s00439-005-1257-4 · Cited by 13 · see citing works
[The TAR syndrome in 3 unrelated children].
Seemanová, E., Spicáková, V., Kulovaný, E., Salichová, J., Veprek, P., & Zwinger, A. (1985) · PubMed · Cited by 1 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990 · see citing works
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,958 · see citing works
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 854 · see citing works
Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.154 · Cited by 844 · see citing works
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
Structural variation in the 3D genome
Spielmann, M., Lupiáñez, D. G., & Mundlos, S. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0007-0 · Cited by 719 · see citing works
Self-citationPhenotypic impact of genomic structural variation: insights from and for human disease
Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3373 · Cited by 648 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
Non-coding genetic variants in human disease: Figure 1.
Zhang, F., & Lupski, J. R. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv259 · Cited by 588 · see citing works
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437 · see citing works
Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M. A., Bertone, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.1083 · Cited by 415 · see citing works
Self-citationDisorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
Huizing, M., Helip‐Wooley, A., Westbroek, W., Gunay‐Aygun, M., & Gahl, W. A. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164303 · Cited by 413 · see citing works
van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 356 · see citing works
Ballif, B. C., Theisen, A. P., Coppinger, J., Gowans, G. C., Hersh, J. H., Madan‐Khetarpal, S., Schmidt, K. R., Tervo, R. C., Escobar, L., Friedrich, C. A., et al. (2008) · Molecular Cytogenetics · doi:10.1186/1755-8166-1-8 · Cited by 297 · see citing works
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 271 · see citing works
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
den Veyver, I. B. V., Patel, A., Shaw, C. A., Pursley, A. N., Kang, S.-H. L., Simovich, M. J., Ward, P. A., Darilek, S. A., Johnson, A., Neill, S. E., et al. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2127 · Cited by 266 · see citing works
Shaffer, L. G., Bejjani, B. A., Torchia, B. S., Kirkpatrick, S. J., Coppinger, J., & Ballif, B. C. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30152 · Cited by 233 · 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
Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes
Alter, B. P. (2007) · Hematology · doi:10.1182/asheducation-2007.1.29 · Cited by 230 · see citing works
Meur, N. L., Holder‐Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati‐Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069732 · Cited by 228 · see citing works
Duplication hotspots, rare genomic disorders, and common disease
Mefford, H. C., & Eichler, E. E. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.003 · Cited by 202 · see citing works
Congenital disorders associated with platelet dysfunctions
Nurden, P., & Nurden, A. T. (2008) · Thrombosis and Haemostasis · doi:10.1160/th07-09-0568 · Cited by 204 · see citing works
Arndt, A.-K., Schäfer, S., Drenckhahn, J., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G. A., Werdich, A. A., Kalwa, H., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.05.015 · Cited by 203 · see citing works
Self-citationShaffer, L. G., Theisen, A. P., Bejjani, B. A., Ballif, B. C., Aylsworth, A. S., Lim, C., McDonald, M., Ellison, J. W., Kostiner, D. R., Saitta, S. C., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3181484b49 · Cited by 198 · see citing works
The Genetics of Microdeletion and Microduplication Syndromes: An Update
Watson, C. T., Marquès‐Bonet, T., Sharp, A. J., & Mefford, H. C. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153408 · Cited by 185 · see citing works
The clinical context of copy number variation in the human genome
Lee, C., & Scherer, S. W. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001390 · Cited by 182 · see citing works
Guidelines for molecular karyotyping in constitutional genetic diagnosis
Vermeesch, J. R., Fiegler, H., de Leeuw, N., Szuhai, K., Schoumans, J., Ciccone, R., Speleman, F., Rauch, A. M., Clayton‐Smith, J., van Ravenswaaij‐Arts, C. M. A., et al. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201896 · Cited by 175 · see citing works
Iqbal, Z., Vandeweyer, G., van der Voet, M., Waryah, A., Zahoor, M., Besseling, J., Roca, L. T., Silfhout, A. T. V.-V., Nijhof, B., Kramer, J. M., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt043 · Cited by 175 · see citing works
Karolak, J. A., Vincent, M., Deutsch, G. H., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden‐Grant, K. L., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.010 · Cited by 165 · see citing works
Dathe, K., Kjaer, K. W., Brehm, A., Meinecke, P., Nürnberg, P., Neto, J. C., Brunoni, D., Tommerup, N., Ott, C., Klopocki, E., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.001 · Cited by 159 · see citing works
Self-citationDisruption of contactin 4 in three subjects with autism spectrum disorder
Roohi, J., Montagna, C., Tegay, D. H., Palmer, L. E., DeVincent, C. J., Pomeroy, J. C., Christian, S. L., Nowak, N., & Hatchwell, E. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057505 · Cited by 151 · see citing works
Bonaglia, M. C., Ciccone, R., Gimelli, G., Gimelli, S., Marelli, S., Verheij, J., Giorda, R., Grasso, R., Borgatti, R., Pagone, F., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.119 · Cited by 147 · see citing works
Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
Klopocki, E., Hennig, B. P., Dathe, K., Koll, R., de Ravel, T. J. L., Baten, E., Blom, E. W., Gillerot, Y., Weigel, J. F. W., Krüger, G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.01.023 · Cited by 146 · see citing works
Self-citationGenomic imbalances associated with müllerian aplasia
Cheroki, C., Krepischi, A. C. V., Szuhai, K., Brenner, V., Kim, C. A., Otto, P. A., & Rosenberg, C. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.051839 · Cited by 138 · see citing works
Ledig, S., Schippert, C., Strick, R., Beckmann, M. W., Oppelt, P. G., & Wieacker, P. F. (2010) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.07.1062 · Cited by 133 · see citing works
Dittwald, P., Gambin, T., Szafrański, P., Li, J., Amato, S., Divon, M. Y., Rojas, L. X. R., Elton, L., Scott, D. A., Schaaf, C. P., et al. (2013) · Genome Research · doi:10.1101/gr.152454.112 · Cited by 129 · see citing works
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
1q21.1 Study Group, Rosenfeld, J. A., Traylor, R. N., Schaefer, G. B., McPherson, E. W., Ballif, B. C., Klopocki, E., Mundlos, S., Shaffer, L. G., & Aylsworth, A. S. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.6 · Cited by 133 · see citing works
Self-citationErdogan, F., Larsen, L. A., Zhang, L., Tümer, Z., Tommerup, N., Chen, W., Jacobsen, J. R., Schubert, M., Jurkatis, J., Tzschach, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058776 · Cited by 126 · see citing works
Self-citationEmerging themes and new challenges in defining the role of structural variation in human disease
Sharp, A. J. (2008) · Human Mutation · doi:10.1002/humu.20843 · Cited by 125 · see citing works
New Perspectives for the Elucidation of Genetic Disorders
Ropers, H. (2007) · The American Journal of Human Genetics · doi:10.1086/520679 · Cited by 121 · see citing works
Self-citationNik‐Zainal, S., Strick, R., Storer, M. A., Huang, N., Rad, R., Willatt, L. R., Fitzgerald, T. W., Martín, V., Sandford, R. N., Carter, N. P., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.082412 · Cited by 121 · see citing works
Hoyer, J., Dreweke, A., Becker, C., Göhring, I., Thiel, C. T., Peippo, M. M., Rauch, R., Hofbeck, M., Trautmann, U., Zweier, C., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.050914 · Cited by 120 · see citing works
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
Albers, C. A., Newbury-Ecob, R. A., Ouwehand, W. H., & Ghevaert, C. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.02.015 · Cited by 118 · see citing works
Self-citationUnderstanding variable expressivity in microdeletion syndromes
Veltman, J. A., & Brunner, H. G. (2010) · Nature Genetics · doi:10.1038/ng0310-192 · Cited by 113 · see citing works
Gene copy number variation and common human disease
Fanciulli, M., Petretto, E. G., & Aitman, T. J. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01342.x · Cited by 111 · see citing works
Anatomic and etiological classification of congenital limb deficiencies
Gold, N. B., Westgate, M., & Holmes, L. B. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33999 · Cited by 110 · see citing works
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
Iascone, M. R., Ciccone, R., Galletti, L., Marchetti, D., Seddio, F., Lincesso, A. R., Pezzoli, L., Vetro, A., Barachetti, D., Boni, L., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01674.x · Cited by 109 · see citing works
Private inherited microdeletion/microduplications: Implications in clinical practice
Mencarelli, M. A., Katzaki, E., Papa, F. T., Sampieri, K., Caselli, R., Uliana, V., Pollazzon, M., Canitano, R., Mostardini, R., Grosso, S., et al. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.06.003 · Cited by 105 · see citing works
Genetic predispositions to childhood leukemia
Stieglitz, E., & Loh, M. L. (2013) · Therapeutic Advances in Hematology · doi:10.1177/2040620713498161 · Cited by 101 · see citing works
Genetics of familial forms of thrombocytopenia
Balduini, C. L., & Savoia, A. (2012) · Human Genetics · doi:10.1007/s00439-012-1215-x · Cited by 100 · see citing works
Deletions Revealing Recessive Genes: Deletions that reveal recessive genes
Coman, D. J., & Gardner, R. M. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201919 · Cited by 94 · see citing works
Ghemlas, I., Li, H., Zlateska, B., Klaassen, R. J., Fernandez, C. V., Yanofsky, R., Wu, J. K., Pastore, Y. D., Silva, M. C., Lipton, J. H., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103270 · Cited by 93 · see citing works
Klopocki, E., Lohan, S. B., Doelken, S. C., Stricker, S., Ockeloen, C. W., de Aguiar, R. S. T., Lezirovitz, K., Mingroni‐Netto, R. C., Jamsheer, A., Shah, H. H., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100409 · Cited by 91 · see citing works
Self-citationCongenital Amegakaryocytic Thrombocytopenia and Thrombocytopenia with Absent Radii
Geddis, A. E. (2009) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2009.01.012 · Cited by 88 · see citing works
Disorders caused by chromosome abnormalities
Shaffer, L. G., & Theisen (2010) · The Application of Clinical Genetics · doi:10.2147/tacg.s8884 · Cited by 91 · see citing works
Contemplating effects of genomic structural variation
Buchanan, J. A., & Scherer, S. W. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e318183f848 · Cited by 88 · see citing works
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Liu, P., Erez, A., Nagamani, S. C. S., Bi, W., Carvalho, C. M. B., Simmons, A. D., Wiszniewska, J., Fang, P., Eng, P. A., Cooper, M. L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr078 · Cited by 86 · see citing works
Advances in the understanding of congenital amegakaryocytic thrombocytopenia
Ballmaier, M., & Germeshausen, M. (2009) · British Journal of Haematology · doi:10.1111/j.1365-2141.2009.07706.x · Cited by 85 · see citing works
Gijsbers, A. C. J., Lew, J. Y., Bosch, C. A. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., den Hollander, N. S., Kant, S. G., Bijlsma, E. K., Breuning, M. H., Bakker, E., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.74 · Cited by 84 · see citing works
Linkage between the mechanisms of thrombocytopenia and thrombopoiesis
Eto, K., & Kunishima, S. (2016) · Blood · doi:10.1182/blood-2015-07-607903 · Cited by 83 · see citing works
Thrombocytopenia-Absent Radius Syndrome
Toriello, H. V. (2011) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0031-1291381 · Cited by 85 · see citing works
High‐resolution array genomic hybridization in prenatal diagnosis
Friedman, J. M. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2129 · Cited by 83 · see citing works
Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser syndrome
Ledig, S., & Wieacker, P. F. (2018) · Medizinische Genetik · doi:10.1007/s11825-018-0173-7 · Cited by 83 · see citing works
Microdeletion and Microduplication Syndromes
Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 80 · see citing works
Deciphering Genetic Disease in the Genomic Era: The Model of GnRH Deficiency
Sykiotis, G. P., Pitteloud, N., Seminara, S. B., Kaiser, U. B., & Crowley, W. F. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3000288 · Cited by 80 · see citing works
Li, F., Shen, Y., Köhler, U., Sharkey, F. H., Menon, D. U., Coulleaux, L., Malan, V., Rio, M., McMullan, D. J., Cox, H. S., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.01.004 · Cited by 79 · see citing works
Genomic Characterization of the Inherited Bone Marrow Failure Syndromes
Khincha, P. P., & Savage, S. A. (2013) · Seminars in Hematology · doi:10.1053/j.seminhematol.2013.09.002 · Cited by 78 · see citing works
Genotyping and phenotyping of platelet function disorders
Watson, S. P., Lowe, G., Lordkipanidzé, M., & Morgan, N. V. (2013) · Journal of Thrombosis and Haemostasis · doi:10.1111/jth.12199 · Cited by 76 · see citing works
Chromosome imbalances in syndromic hearing loss
Catelani, A. L. P. M., Krepischi, A. C. V., Kim, C. A., Kok, F., Otto, P. A., Auricchio, M. T. B. M., Mazzeu, J. F., Uehara, D. T., Costa, S., Knijnenburg, J., et al. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01276.x · Cited by 76 · see citing works
A novel X‐linked disorder with developmental delay and autistic features
Kaya, N., Çolak, D., AlBakheet, A., Al-Owain, M., AbuDheim, N., Al‐Younes, B., Al‐Zahrani, J., Mukaddes, N. M., Dervent, A., Aldosari, N., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22673 · Cited by 76 · see citing works
Ekici, A. B., Strissel, P. L., Oppelt, P. G., Renner, S. P., Brucker, S. Y., Beckmann, M. W., & Strick, R. (2013) · Gene · doi:10.1016/j.gene.2013.01.030 · Cited by 73 · see citing works
Digilio, M. C., Bernardini, L., Consoli, F., Lepri, F. R., Giuffrida, M. G., Baban, A., Surace, C., Ferese, R., Angioni, A., Novelli, A., et al. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.12.004 · Cited by 70 · see citing works
Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D. J., Delatycki, M. B., Gardner, R. J. M., Hunter, M. F., James, P. A., Kannus, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.062604 · Cited by 71 · see citing works
Terminal 3p deletions: Phenotypic variability, chromosomal non‐penetrance, or gene modification?
Barber, J. C. K. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32387 · Cited by 68 · see citing works
Copy-Number Variations, Noncoding Sequences, and Human Phenotypes
Klopocki, E., & Mundlos, S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101404 · Cited by 67 · see citing works
Self-citationInherited bone marrow failure syndromes in adolescents and young adults
Wilson, D. B., Link, D. C., Mason, P. J., & Bessler, M. (2014) · Annals of Medicine · doi:10.3109/07853890.2014.915579 · Cited by 66 · see citing works
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
Neill, N. J., Torchia, B. S., Bejjani, B. A., Shaffer, L. G., & Ballif, B. C. (2010) · Molecular Cytogenetics · doi:10.1186/1755-8166-3-11 · Cited by 62 · see citing works
Global increases in both common and rare copy number load associated with autism
Girirajan, S., Johnson, R. L., Tassone, F., Balciuniene, J., Katiyar, N., Fox, K., Baker, C. A., Srikanth, A., Yeoh, K. H., Khoo, S. J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt136 · Cited by 59 · see citing works
Stankiewicz, P., Kulkarni, S., Dharmadhikari, A. V., Sampath, S., Bhatt, S., Shaikh, T. H., Xia, Z., Pursley, A. N., Cooper, M. L., Shinawi, M. S., et al. (2011) · Human Mutation · doi:10.1002/humu.21614 · Cited by 57 · see citing works
Uhrig, S., Schlembach, D., Waldispuehl‐Geigl, J., Schaffer, W., Geigl, J. B., Klopocki, E., Mundlos, S., & Speicher, M. R. (2007) · The American Journal of Human Genetics · doi:10.1086/521338 · Cited by 56 · see citing works
Self-citationCanton, A. P. M., da Costa, S. S., Rodrigues, T. C., Bertola, D. R., Malaquias, A. C., Correa, F. A., Arnhold, I. J. P., Rosenberg, C., & Jorge, A. A. L. (2014) · European Journal of Endocrinology · doi:10.1530/eje-14-0232 · Cited by 54 · see citing works
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
Study, D., Ceroni, F., Aguilera‐Garcia, D., Chassaing, N., Bax, D. A., Blanco‐Kelly, F., Ramos, P., Tarilonte, M., Villaverde, C., da Silva, L. R. J., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1875-2 · Cited by 54 · see citing works
The exon junction complex in neural development and neurodevelopmental disease
McMahon, J. J., Miller, E. E., & Silver, D. L. (2016) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2016.03.006 · Cited by 52 · see citing works
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Vergult, S., Hoogeboom, A. J. M., Bijlsma, E. K., Sante, T., Klopocki, E., Wilde, B. D., Jongmans, M. C. J., Thiel, C. T., Verheij, J. B. G. M., Aytés, A. P., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.120 · Cited by 53 · see citing works
Self-citationVelinov, M. T., & Dolzhanskaya, N. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.05.005 · Cited by 53 · see citing works
Cuoco, C., Ronchetto, P., Gimelli, S., Béna, F., Divizia, M. T., Lerone, M., Mirabelli-Badenier, M., Mascaretti, M., & Gimelli, G. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-12 · Cited by 52 · see citing works
Clinical Utility of Chromosomal Microarray Analysis
Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., Lewis, J., Torchia, B. S., Walker, C., Traylor, R. N., et al. (2012) · PEDIATRICS · doi:10.1542/peds.2012-0568 · Cited by 52 · see citing works
Neonatal manifestations of inherited bone marrow failure syndromes
Khincha, P. P., & Savage, S. A. (2015) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2015.12.003 · Cited by 54 · see citing works
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts
Tewes, A.-C., Rall, K. K., Römer, T., Hucke, J., Kapczuk, K., Brucker, S. Y., Wieacker, P. F., & Ledig, S. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.02.014 · Cited by 50 · 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
Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome
O’Bleness, M., Searles, V. B., Dickens, C. M., Astling, D. P., Albracht, D., Mak, A. C. Y., Lai, Y. Y. Y., Lin, C. J., Chu, C., Graves, T., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-387 · Cited by 47 · see citing works
Mefford, H. C. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c175d2 · Cited by 45 · see citing works
Genetics of inherited thrombocytopenias
Warren, J. T., & Paola, J. D. (2022) · Blood · doi:10.1182/blood.2020009300 · Cited by 44 · see citing works
Poot, M., Eleveld, M. J., Slot, R. V. ‘., van Amstel, H. K. P., & Hochstenbach, R. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.120 · Cited by 44 · see citing works
Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
Berg, J. S., Potocki, L., & Bacino, C. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33185 · Cited by 40 · see citing works
Flaumenhaft, R. C. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-387837-3.00018-3 · Cited by 40 · see citing works
Developmental basis of trachea-esophageal birth defects
Edwards, N. A., Shacham-Silverberg, V., Weitz, L., Kingma, P. S., Shen, Y., Wells, J. M., Chung, W. K., & Zorn, A. M. (2021) · Developmental Biology · doi:10.1016/j.ydbio.2021.05.015 · Cited by 38 · see citing works
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Bierhals, T., Maddukuri, S. B., Kutsche, K., & Girisha, K. M. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35730 · Cited by 39 · see citing works
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
Pang, H., Yu, X., Kim, Y. M., Wang, X., Jinkins, J. K., Yin, J., Li, S., & Gu, H. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00577 · Cited by 36 · see citing works
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Brosens, E., Eussen, H. J., van Bever, Y., van der Helm, R. M., IJsselstijn, H., Zaveri, H. P., Wijnen, R. M. H., Scott, D. A., Tibboel, D., & de Klein, A. (2012) · Molecular Syndromology · doi:10.1159/000345577 · Cited by 34 · see citing works
- Authors
- Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., König, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., & Mundlos, S.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- University of British Columbia (CA)
- Bristol Royal Hospital for Children (GB)
- Katholisches Kinderkrankenhaus Wilhelmstift (DE)
- University Hospital Frankfurt (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Mundlos, Stefan
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 80
- Issue
- 2
- Pages
- 232-240
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1785342
- OpenAlex
- W2001475328
- Cited by
- 360
- References
- 42
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 5 · 2023: 9 · 2022: 10 · 2021: 16 · 2020: 9 · 2019: 19 · 2018: 9 · 2017: 15 · 2016: 6 · 2015: 22 · 2014: 17 · 2013: 27 · 2012: 30
- FWCI
- 14.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- thrombocytopenia-absent radius syndrome, autosomal recessive inheritance, radial aplasia, de novo deletion, congenital heart disease, cow's milk intolerance
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Humans, Infant, Male, Middle Aged, Radius, Syndrome, Thrombocytopenia, Inheritance Patterns
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 ›
Are you an author, or do you see a problem with this page? Request a review