The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Open accessAbstract
BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. RESULTS: We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10(-7)). We found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild-to-moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The reciprocal duplication was enriched in nine children with mental retardation or autism spectrum disorder and other variable features (P=0.02). We identified three deletions and three duplications of the 1q21.1 region in an independent sample of 788 patients with mental retardation and congenital anomalies. CONCLUSIONS: We have identified recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease. Clinical diagnosis in patients with these lesions may be most readily achieved on the basis of genotype rather than phenotype.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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?
In the citing paper
“The clinical phenotypes associated with a single allele are diverse and include pediatric neurodevelopmental disorders and adult psychiatric conditions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Mefford et al., 2008
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Self-citationDetection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Self-citationBurnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Self-citationLarge recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402
Self-citationMapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Vanita V, 2008, Mol Vis, 14, 323
Cited by
Sorted by citations
Items 501–600 of 796
Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism
Kim, S.-W., Lee, H., Song, D. Y., Lee, G., Han, J. H., Lee, J., Byun, H. J., Son, J. H., Kim, Y. R., Lee, Y., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01532-7 · Cited by 7
rustybam : a composable toolkit for alignment analysis and visualization with SafFire
Mirchandani, C., & Vollger, M. R. (2026) · Bioinformatics · doi:10.64898/2026.02.16.706142 · Cited by 7
Behavioural Genetics of Childhood Disorders
Freitag, C. M., Asherson, P. J., & Hebebrand, J. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_178 · Cited by 7
Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
Byeon, J. H., Shin, E., Kim, G.-H., Lee, K., Hong, Y. S., Lee, J. W., & Eun, B. (2013) · Yonsei Medical Journal · doi:10.3349/ymj.2014.55.1.30 · Cited by 7
High resolution array in the clinical approach to chromosomal phenotypes
Filges, I., Suda, L., Weber, P., Datta, A., Fischer, D., Dill, P. E., Glanzmann, R., Benzing, J., Hegi, L., Wenzel, F., et al. (2012) · Gene · doi:10.1016/j.gene.2011.12.042 · Cited by 7
Rojnueangnit, K., Mikhail, F. M., Cui, X., Yu, S., & Robin, N. H. (2014) · The Cleft Palate-Craniofacial Journal · doi:10.1597/14-088 · Cited by 7
Genetic risk in autism: new associations and clinical testing
Freitag, C. M. (2011) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2011.579101 · Cited by 7
Omran, A. G., Sahmoud, S., Peng, J. L., Ashhab, M. U., & Yin, F. (2012) · Journal of Medical Case Reports · doi:10.1186/1752-1947-6-168 · Cited by 7
Ha, K., Shen, Y., Graves, T. D., Kim, C., & Kim, H. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0286-0 · Cited by 7
The erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2
State, M. W. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.03.021 · Cited by 6
Malwade, S., Sellgren, C. M., Vasistha, N. A., & Khodosevich, K. (2025) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2025.100495 · Cited by 6
New technologies in molecular genetics
Helbig, I. (2014) · Progress in brain research · doi:10.1016/b978-0-444-63326-2.00013-2 · Cited by 6
Development of new postnatal diagnostic methods for chromosome disorders
Shaffer, L. G., & Bejjani, B. A. (2010) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2010.11.001 · Cited by 6
What can we learn from old microdeletion syndromes using array‐CGH screening?
Mosca‐Boidron, A., Bouquillon, S., Faivre, L. O., Callier, P., Andrieux, J., Marle, N., Bonnet, C., Vincent‐Delorme, C., Berri, M., Plessis, G., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01747.x · Cited by 6
Butler, M. G., Usrey, K., Roberts, J., Schroeder, S. R., & Manzardo, A. M. (2014) · Genetics Research International · doi:10.1155/2014/408516 · Cited by 6
Clinical and genetic findings in patients with congenital cataract and heart diseases
Li, X., Si, N., Song, Z., Ren, Y., & Xiao, W. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01873-7 · Cited by 6
Syndromes Hidden within the 16p11.2 Deletion Region
Poot, M. (2018) · Molecular Syndromology · doi:10.1159/000490845 · Cited by 6
Self-citationSchizophrenia Genes: On the Matter of Their Convergence
Rujescu, D. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_183 · Cited by 7
Is fetal isolated double renal collecting system an indication for chromosomal microarray?
Singer, A., Maya, I., Frumkin, A., Zeligson, S., Josefsberg, S. B. Y., Berger, R., Shachar, S. B., & Sagi‐Dain, L. (2019) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2019.1613364 · Cited by 6
Andries, V., Vandepoele, K., & van, F. (2012) · InTech eBooks · doi:10.5772/28470 · Cited by 6
Parental age counseling and screening for fetal trisomy
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0024 · Cited by 6
Genetic Associations in Schizophrenia
O’Donovan, M. C., & Owen, M. J. (2010) · Wiley eBooks · doi:10.1002/9781444327298.ch13 · Cited by 6
Genetics and Clinical Neuroscience in Intellectual Disability
Romano, C. (2022) · Brain Sciences · doi:10.3390/brainsci12030338 · Cited by 6
Self-citationModifier genetics in neuropsychiatric disease: challenges and opportunities
Ruzzo, E. K., Pappas, A. L., & Goldstein, D. B. (2012) · Genome biology · doi:10.1186/gb-2012-13-3-150 · Cited by 5
Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia
Duński, E., & Pękowska, A. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1009390 · Cited by 5
Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
Azidane, S., Gallego, X., Durham, L., Cáceres, M., Güney, E., & Pérez‐Cano, L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100316 · Cited by 5
Liu, L., Lei, T., Guo, F., Ma, C., Li, Z., Zhang, L., & Li, D. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1448341 · Cited by 5
Proteomics Can Rise to the Challenge of Pseudogenes’ Coding Nature
Vasylieva, V., Arefiev, I., Bourassa, F., Trifiro, F.-A., & Brunet, M. A. (2024) · Journal of Proteome Research · doi:10.1021/acs.jproteome.4c00116 · Cited by 7
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
Real, T. D., Hebbar, P., Yoo, D., Antonacci, F., Pačar, I., Dubocanin, D., Diekhans, M., Mikol, G. J., Popoola, O. G., Mallory, B. J., et al. (2026) · Cell Genomics · doi:10.1016/j.xgen.2026.101194 · Cited by 5
Self-citationZhu, L., & Su, X. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.728816 · Cited by 7
Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
Wen, X., Xing, H., Qi, K., Wang, H., Li, X., Zhu, J., Chen, W., Cui, L., Zhang, J., & Qi, H. (2022) · Disease Markers · doi:10.1155/2022/5487452 · Cited by 6
Yue, F., Yang, X., Jiang, Y., Li, S., Liu, R., & Zhang, H. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1207891 · Cited by 5
Dumas, L., Dickens, C. M., Anderson, N., Davis, J. M., Bennett, B., Radcliffe, R. A., & Sikela, J. M. (2014) · Mammalian Genome · doi:10.1007/s00335-014-9502-6 · Cited by 5
Collier, D. A., Vassos, E., Holden, S. T., Patch, C., McGuire, P. K., & Lewis, C. M. (2009) · F1000 Medicine Reports · doi:10.3410/m1-61 · Cited by 5
Rocha, A. B., Patel, K. R., Hicks, J. M., Edmonds, J., Paldino, M. J., & Wu, H. (2015) · Pediatric and Developmental Pathology · doi:10.2350/15-05-1637-cr.1 · Cited by 5
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes
Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I. J., Dean, J., Shannon, N. L., Berg, J., Holder, S., et al. (2019) · Archives of Disease in Childhood · doi:10.1136/archdischild-2018-316547 · Cited by 5
Self-citationShi, S., Lin, S., Cai, D., Wen, W., & Li, R. (2020) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2019.11.019 · Cited by 5
Trastorno explosivo intermitente: un diagnóstico controversial
Ospina, J. P. Z., & Palacio, J. D. (2015) · Revista Colombiana de Psiquiatría · doi:10.1016/j.rcp.2015.11.001 · Cited by 5
Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
Alzarka, B. J., Usala, R. L., Whitehead, M. T., & Ahn, S.-Y. (2018) · Frontiers in Pediatrics · doi:10.3389/fped.2018.00273 · Cited by 5
Genetic mechanisms of neurodevelopmental disorders
Au, P. Y. B., Eaton, A. J., & Dyment, D. A. (2020) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64150-2.00024-1 · Cited by 5
Zhou, W., Liu, W.-Y., Liu, D., Jiang, J., Zhou, D.-M., Zhong, Z., & Xu, X. (2012) · Analytical Biochemistry · doi:10.1016/j.ab.2012.05.009 · Cited by 5
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Stockman, J. A. (2010) · Yearbook of Pediatrics · doi:10.1016/s0084-3954(09)79511-9 · Cited by 5
Mehta, S., & Golshani, P. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.04.009 · Cited by 6
Self-citationGene chips unmask cryptic diseases
Hayden, E. C. (2008) · Nature · doi:10.1038/455274b · Cited by 5
Genetics of Psychiatric Disorders: Advances in Genetic Epidemiology and Molecular Genetics
Merikangas, K. R., & Karayiorgou, M. (2015) · Wiley eBooks · doi:10.1002/9781118753378.ch16 · Cited by 5
Johnston, M. (2011) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.8343957.8782057 · Cited by 5
Schizophrenia: from mechanism to therapy
Lu, Z., Sun, J., Zhao, G., Zhu, Y., Yuan, R., Zhou, J., Zhang, D., & Yue, W. (2026) · Science China Life Sciences · doi:10.1007/s11427-025-2990-0 · Cited by 4
McSweeney, C., Chen, M. K., Dong, F., Sebastian, A., Reynolds, D. J., Mott, J., Pei, Z., Zou, J., Shi, Y., & Mao, Y. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054600 · Cited by 4
Budișteanu, M., Papuc, S. M., Erbescu, A., Glangher, A., Andrei, L. E., Rad, F., Hinescu, M. E., & Arghir, A. (2024) · Reviews in the Neurosciences · doi:10.1515/revneuro-2024-0106 · Cited by 4
Shaffer, L. G. (2012) · Springer eBooks · doi:10.1007/978-1-4419-1688-4_18 · Cited by 4
Jagannath, V., Grünblatt, E., Theodoridou, A., Oneda, B., Roth, A. C., Gerstenberg, M., Franscini, M., Traber‐Walker, N., Correll, C. U., Heekeren, K., et al. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32770 · Cited by 4
Mermer, S., & Şahin, D. A. (2022) · Cardiology in the Young · doi:10.1017/s104795112100473x · Cited by 4
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Levy, M., Shohat, M., Kahana, S., Matar, R. T., Klein, K., Agmon-Fishman, I., Gurevitch, M., Basel‐Salmon, L., & Maya, I. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63333 · Cited by 4
Fox, J. C., Dutta, R., Nihalani, B. R., Ponte, A. H., Talsness, D. M., VanderVeen, D. K., Steiner, R. D., & Freedman, S. F. (2024) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2023.11.011 · Cited by 4
Genetic Overlaps in Mental Retardation, Autism and Schizophrenia
Kooy, R. F., der Aa, N. V., Vandeweyer, G., Reyniers, E., & Rooms, L. (2010) · Monographs in human genetics · doi:10.1159/000287602 · Cited by 4
Autism and Schizophrenia Are Disorders of Evolvability
Gualtieri, C. T. (2014) · Open Journal of Medical Psychology · doi:10.4236/ojmp.2014.32019 · Cited by 4
Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy
Helbig, I., Hartmann, C., & Mefford, H. C. (2013) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2013.08.032 · Cited by 4
Self-citationGenetic pathways to autism spectrum disorders
Mehta, S., & Nurmi, E. L. (2013) · Neuropsychiatry · doi:10.2217/npy.13.16 · Cited by 5
Self-citationSex-specific recombination patterns predict parent of origin for recurrent genomic disorders
Mosley, T. J., Johnston, H. R., Cutler, D. J., Zwick, M. E., & Mullé, J. G. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00999-8 · Cited by 5
Variant Chromosomes and Abnormalities of No Phenotypic Consequence
Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0016 · Cited by 4
Salinero, L. K., Shur, N. E., & Oh, A. K. (2020) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665620954751 · Cited by 4
Makrythanasis, P., Gimelli, S., Béna, F., Dahoun, S. P., Morris, M. A., Antonarakis, S. E., & Bottani, A. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2011.11.001 · Cited by 4
Self-citationKhan, S., Toews, H., Wang, J., Arredondo, J., Provias, J., Göhring, G., & Barr, R. D. (2012) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0b013e31823321e5 · Cited by 4
Gekas, J., Vallée, M., Castonguay, L., Laframboise, R., Maranda, B., Piedbœuf, B., & Rousseau, F. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100304 · Cited by 4
Intégrité chromosomique et schizophrénie
Krebs, M. (2009) · médecine/sciences · doi:10.1051/medsci/2009253219 · Cited by 4
Hirbo, J. B., Eidem, H. R., Rokas, A., & Abbot, P. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144155 · Cited by 4
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0011 · Cited by 4
Aripiprazole reversed gastroparesis in a child with 1q21.1–q21.2 microdeletion
Rabinowitz, S. S., Ahuja, N., & Gottfried, J. (2018) · BMJ Case Reports · doi:10.1136/bcr-2017-223231 · Cited by 4
Dong, H., & Du, Y.-X. (2019) · Revista da Associação Médica Brasileira · doi:10.1590/1806-9282.65.6.786 · Cited by 5
Walters, J., O’Donovan, M. C., & Owen, M. J. (2011) · Wiley eBooks · doi:10.1002/9780470978672.ch4 · Cited by 4
Ruiz-Arenas, C., Cáceres, A., López‐Sánchez, M., Pelegrí-Sisó, D., González, J., & González, J. R. (2020) · Genome Research · doi:10.1101/gr.258301.119 · Cited by 4
1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case
Minelli, M., Palka, C., Alfonsi, M., Capanna, S., Morizio, E., Miscia, M. E., Lisi, G., Stuppia, L., & Gatta, V. (2025) · Current Issues in Molecular Biology · doi:10.3390/cimb47010026 · Cited by 3
Clinical Findings on Chromosome 1 Copy Number Variations
Leitão, F., Grangeia, A., Pinto, J., Passas, A., & Dória, S. (2022) · Neuropediatrics · doi:10.1055/s-0042-1754162 · Cited by 4
Hu, H., Geng, Z., Zhang, S., Xu, Y., Wang, Q., Chen, S., Zhang, B., Sun, K., & Lu, Y. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1075349 · Cited by 3
Chromosome Abnormalities Detected at Prenatal Diagnosis
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0021 · Cited by 3
Wilson, G. N., & Tonk, V. S. (2018) · Open Journal of Psychiatry · doi:10.4236/ojpsych.2018.83023 · Cited by 3
1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems
Kaymakçalan, H., & Li, P. (2019) · The Indian Journal of Pediatrics · doi:10.1007/s12098-019-03014-2 · Cited by 3
Klopocki, E. (2011) · Der Gynäkologe · doi:10.1007/s00129-010-2726-y · Cited by 3
Haldeman‐Englert, C. R., Saitta, S. C., & Zackai, E. H. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-40139-5.00020-6 · Cited by 3
Molekulare Karyotypisierung in der klinischen Diagnostik
Rauch, A. M. (2008) · Medizinische Genetik · doi:10.1007/s11825-008-0135-6 · Cited by 3
Xu, F., & Li, P. (2013) · InTech eBooks · doi:10.5772/55689 · Cited by 4
Three generations of matrilineal excess of birth defects in Irish families with neural tube defects
Byrne, J. (2010) · Irish Journal of Medical Science (1971 -) · doi:10.1007/s11845-010-0632-x · Cited by 3
Heinrich, U., Rost, I., Brown, A., Gordon, T., Haan, N., & Massie, J. C. (2009) · Journal of Laboratory Medicine · doi:10.1515/jlm.2009.045 · Cited by 3
Update on the Genetics of Stroke and Cerebrovascular Disease 2008
Dichgans, M., & Hegele, R. A. (2009) · Stroke · doi:10.1161/strokeaha.108.544569 · Cited by 3
Gametogenesis and Conception, Pregnancy Loss and Infertility
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0023 · Cited by 3
Elements of Medical Cytogenetics
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0001 · Cited by 3
Ocular Manifestations of Chromosomal Abnormalities
Siddiqui, S. N., Levin, A. V., Rusinek, M., Sutherland, J. E., & Quinn, A. G. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780195326147.003.0013 · Cited by 3
Specific Chromosome Disorders in Newborns
Haldeman‐Englert, C. R., Saitta, S. C., & Zackai, E. H. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0134-0.10020-4 · Cited by 3
Mehta, S., & Geschwind, D. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00115-4 · Cited by 3
Self-citationGardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0007 · Cited by 3
The Origins and Consequences of Chromosome Pathology
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0003 · Cited by 3
Hendrix, R. A. (2011) · ProQuest Demo Repository · Cited by 3
Genetic Syndromes: From Clinical Suspicion to Referral to Diagnosis
Shur, N. E., & Abuelo, D. N. (2009) · Pediatric Annals · doi:10.3928/00904481-20090723-04 · Cited by 3
Shaw, A. C., & Hennekam, R. C. M. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.08.002 · Cited by 3
Self-citationForeword for inaugural issue of Journal of Neurodevelopmental Disorders
Insel, T. R. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9005-z · Cited by 3
Liang, Y., Zhou, R., Liu, T., Gao, J., Xu, Y., Huang, M., Meng, L., Huo, H., Zhang, Q., Wu, Y., et al. (2026) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-026-08373-8 · Cited by 2
Julia, S., & Soulier, A. (2015) · Journal of Clinical Research & Bioethics · doi:10.4172/2155-9627.1000245 · Cited by 2
5p13 microduplication in a malformed fetus and his unaffected father
Kariminejad, A., Ghaderi‐Sohi, S., Gholami, S., Najafi, K., Kariminejad, R., & Hennekam, R. C. M. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63030 · Cited by 2
Self-citationOkumura, H., Hayashi, Y., Arioka, Y., Kushima, I., Mori, D., & Ozaki, N. (2024) · Stem Cell Research · doi:10.1016/j.scr.2024.103555 · Cited by 2
Corvin, A. P., & Gill, M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-7020-3397-1.00003-3 · Cited by 3
Self-citation
Metadata
- Authors
- Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M. H. F., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Giudice, M. L., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Räber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M.-C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J. L., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B. A., Vermeesch, J. R., Barber, J. C. K., Willatt, L., Tassabehji, M., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- University of Geneva (CH)
- Ghent University Hospital (BE)
- Salisbury NHS Foundation Trust (GB)
- Wessex Regional Genetics Laboratory (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- KU Leuven (BE)
- Radboud University Nijmegen (NL)
- Children's Health Ireland at Crumlin (IE)
- Amsterdam UMC Location University of Amsterdam (NL)
- Great Ormond Street Hospital (GB)
- St Mary's Hospital (GB)
- Addenbrooke's Hospital (GB)
- Oasi Maria SS (IT)
- University Hospital of Bern (CH)
- Istituto Giannina Gaslini (IT)
- Royal Hospital for Children (GB)
- University Medical Center Utrecht (NL)
- St. James's Hospital (IE)
- Centre for Human Genetics (GB)
- Greenwood Genetic Center (US)
- Universitat Pompeu Fabra (ES)
- Wellcome Sanger Institute (GB)
- University of Chicago (US)
- Vanderbilt University (US)
- Cold Spring Harbor Laboratory (US)
- University of Manchester (GB)
- Howard Hughes Medical Institute (US)
- ORCID
- Mefford, Heather C.
- Sharp, Andrew J.
- Jiang, Zhaoshi
- Baralle, Diana
- Collins, Amanda
- Mercer, Catherine
- Norga, Koen
- Reardon, William
- Hennekam, Raoul C.
- Male, Alison
- Mehta, Sarju G.
- Woods, C. Geoffrey
- Firth, Helen V.
- Fichera, Marco
- Giudice, Mariangela Lo
- Conrad, Bernard
- Schwerzmann, Markus
- Räber, Lorenz
- Gallati, Sabina
- Striano, Pasquale
- Coppola, Antonietta
- Tobias, Edward S.
- Verloo, Patrick
- Goossens, Linde
- Mortier, Geert
- Speleman, Frank
- Nelen, Marcel R.
- Hochstenbach, Ron
- Poot, Martin
- Gallagher, Louise
- Gill, Michael
- McClellan, Jon
- King, Mary-Claire
- Skinner, Cindy
- Stevenson, Roger E.
- Antonarakis, Stylianos E.
- Estivill, Xavier
- Menten, Björn
- Schwartz, Stuart
- Sutcliffe, James S.
- Walsh, Tom
- Knight, Samantha J.L.
- Sebat, Jonathan
- Romano, Corrado
- Schwartz, Charles E.
- Veltman, Joris A.
- Vermeesch, Joris R.
- Barber, John C.K.
- Tassabehji, May
- Eichler, Evan E.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-10-16
- Volume
- 359
- Issue
- 16
- Pages
- 1685-1699
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2703742
- OpenAlex
- W2098380802
- Cited by
- 804
- References
- 45
- Citations by year
- 2026: 16 · 2025: 17 · 2024: 16 · 2023: 17 · 2022: 16 · 2021: 32 · 2020: 25 · 2019: 28 · 2018: 60 · 2017: 27 · 2016: 24 · 2015: 46 · 2014: 39 · 2013: 59 · 2012: 68
- FWCI
- 59.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- DIAL (Catholic University of Leuven) (submittedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Howard Hughes Medical Institute
- Wellcome Trust (061183)
- National Institute for Health and Care Research
- National Institutes of Health
- National Institute on Aging
- National Institute of General Medical Sciences (T32GM007266)
- National Institute of Neurological Disorders and Stroke
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043569, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- microdeletion, microduplication, intellectual disability, autism spectrum disorder, congenital malformations, microcephaly, cardiac anomalies, cataract, genotype-phenotype correlation, de novo deletion, mode of inheritance
- MeSH terms
- Congenital Abnormalities, Autistic Disorder, Cataract, Child, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Heart Defects, Congenital, Humans, Male, Intellectual Disability, Microcephaly, Phenotype, Recombination, Genetic, Genetic Variation, Gene Rearrangement, Gene Duplication
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
