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A. M. George, Taylor, J., and Love, D. R., Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth, vol. 11, pp. 3133-3137, 2012.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, et al. (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet. Med. 12: 641-647. PMid:20808231   Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, et al. (2007). Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat. Genet. 39: 1071-1073. PMid:17704777   Battaglia A, Novelli A, Bernardini L, Igliozzi R, et al. (2009). Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am. J. Med. Genet. A. 149A: 1200-1204. PMid:19449418   Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van HA, et al. (2009). Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur. J. Med. Genet. 52: 77-87. PMid:19306953   Bochukova EG, Huang N, Keogh J, Henning E, et al. (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463: 666-670. PMid:19966786 PMCid:3108883   Firth HV, Richards SM, Bevan AP, Clayton S, et al. (2009). DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. Am. J. Hum. Genet. 84: 524-533. PMid:19344873 PMCid:2667985   Fombonne E (2002). Epidemiological trends in rates of autism. Mol. Psychiatry 7 (Suppl 2): S4-S6. PMid:12142931   Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, et al. (2005). New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J. Med. Genet. 42: 58-68. PMid:15635077 PMCid:1735913   Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, et al. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 42: 203-209. PMid:20154674 PMCid:2847896   Hempel M, Rivera BN, Wagenstaller J, Lederer G, et al. (2009). Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am. J. Med. Genet. A. 149A: 2106-2112. PMid:19676056   Kumar RA, Karamohamed S, Sudi J, Conrad DF, et al. (2008). Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17: 628-638. PMid:18156158   Marshall CR, Noor A, Vincent JB, Lionel AC, et al. (2008). Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82: 477-488. PMid:18252227 PMCid:2426913   Mefford HC, Muhle H, Ostertag P, von Spiczak S, et al. (2010). Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6: e1000962. PMid:20502679 PMCid:2873910   Miller DT, Adam MP, Aradhya S, Biesecker LG, et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86: 749-764. PMid:20466091 PMCid:2869000   Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, et al. (2009). Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur. J. Med. Genet. 52: 41-46. PMid:19022413   Sharp AJ, Mefford HC, Li K, Baker C, et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40: 322-328. PMid:18278044 PMCid:2365467   Shi W and Filmus J (2009). A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. Am. J. Med. Genet. A. 149A: 552-554. PMid:19215053   Weiss LA, Shen Y, Korn JM, Arking DE, et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358: 667-675. PMid:18184952   Woodberry KA, Giuliano AJ and Seidman LJ (2008). Premorbid IQ in schizophrenia: a meta-analytic review. Am. J. Psychiatry 165: 579-587. PMid:18413704
R. A. Johnson, Hellens, R. P., and Love, D. R., A transient assay for recombination demonstrates that Arabidopsis SNM1 and XRCC3 enhance non-homologous recombination, vol. 10, pp. 2104-2132, 2011.
Bleuyard JY and White CI (2004). The Arabidopsis homologue of Xrcc3 plays an essential role in meiosis. EMBO J. 23: 439-449. PMid:14726957    PMCid:1271761 Bleuyard JY, Gallego ME and White CI (2006). Recent advances in understanding of the DNA double-strand break repair machinery of plants. DNA Repair 5: 1-12. PMid:16202663 Brenneman MA, Weiss AE, Nickoloff JA and Chen DJ (2000). XRCC3 is required for efficient repair of chromosome breaks by homologous recombination. Mutat. Res. 459: 89-97. PMid:10725659 Brenneman MA, Wagener BM, Miller CA, Allen C, et al. (2002). XRCC3 controls the fidelity of homologous recombination: roles for XRCC3 in late stages of recombination. Mol. Cell 10: 387-395. Britt AB and May GD (2003). Re-engineering plant gene targeting. Trends Plant Sci. 8: 90-95. Childs KL, Hamilton JP, Zhu W, Ly E, et al. (2007). The TIGR plant transcript assemblies database. Nucleic Acids Res. 35: D846-D851. PMid:17088284    PMCid:1669722 Chung BY, Simons C, Firth AE, Brown CM, et al. (2006). Effect of 5' UTR introns on gene expression in Arabidopsis thaliana. BMC Genomics 7: 120. PMid:16712733    PMCid:1482700 Coates D, Taliercio EW and Gelvin SB (1987). Chromatin structure of integrated T-DNA in crown gall tumors. Plant Mol. Biol. 8: 159-168. Cotsaftis O and Guiderdoni E (2005). Enhancing gene targeting efficiency in higher plants: rice is on the move. Transgenic Res. 14: 1-14. PMid:15865044 Di Primo C, Galli A, Cervelli T, Zoppe M, et al. (2005). Potentiation of gene targeting in human cells by expression of Saccharomyces cerevisiae Rad52. Nucleic Acids Res. 33: 4639-4648. PMid:16106043    PMCid:1187822 Dray E, Siaud N, Dubois E and Doutriaux MP (2006). Interaction between Arabidopsis Brca2 and its partners Rad51, Dmc1, and Dss1. Plant Physiol. 140: 1059-1069. PMid:16415210    PMCid:1400560 Durrant WE, Wang S and Dong X (2007). Arabidopsis SNI1 and RAD51D regulate both gene transcription and DNA recombination during the defense response. Proc. Natl. Acad. Sci. U. S. A. 104: 4223-4227. PMid:17360504    PMCid:1820736 Forget AL, Bennett BT and Knight KL (2004). Xrcc3 is recruited to DNA double strand breaks early and independent of Rad51. J. Cell. Biochem. 93: 429-436. PMid:15372620 Fuller LF and Painter RB (1988). A Chinese hamster ovary cell line hypersensitive to ionizing radiation and deficient in repair replication. Mutat. Res. 193: 109-121. PMid:3347204 Gelvin SB (2003). Agrobacterium-mediated plant transformation: the biology behind the “gene-jockeying” tool. Microbiol. Mol. Biol. Rev. 67: 16-37, table. PMid:12626681    PMCid:150518 Gorbunova V, Avivi-Ragolski N, Shalev G, Kovalchuk I, et al. (2000). A new hyperrecombinogenic mutant of Nicotiana tabacum. Plant J. 24: 601-611. PMid:11123799 Hanin M, Mengiste T, Bogucki A and Paszkowski J (2000). Elevated levels of intrachromosomal homologous recombination in Arabidopsis overexpressing the MIM gene. Plant J. 24: 183-189. PMid:11069693 Hellens RP, Allan AC, Friel EN, Bolitho K, et al. (2005). Transient expression vectors for functional genomics, quantification of promoter activity and RNA silencing in plants. Plant Methods 1: 13. PMid:16359558    PMCid:1334188 Hemphill AW, Bruun D, Thrun L, Akkari Y, et al. (2008). Mammalian SNM1 is required for genome stability. Mol. Genet. Metab. 94: 38-45. PMid:18180189    PMCid:2413150 Hrouda M and Paszkowski J (1994). High fidelity extrachromosomal recombination and gene targeting in plants. Mol. Gen. Genet. 243: 106-111. Iida S and Terada R (2005). Modification of endogenous natural genes by gene targeting in rice and other higher plants. Plant Mol. Biol. 59: 205-219. PMid:16217613 Ilnytskyy Y, Boyko A and Kovalchuk I (2004). Luciferase-based transgenic recombination assay is more sensitive than beta-glucoronidase-based. Mutat. Res. 559: 189-197. PMid:15066586 Kim SI and Gelvin SB (2007). Genome-wide analysis of Agrobacterium T-DNA integration sites in the Arabidopsis genome generated under non-selective conditions. Plant J. 51: 779-791. PMid:17605756 Kimura S, Saotome A, Uchiyama Y, Mori Y, et al. (2005). The expression of the rice (Oryza sativa L.) homologue of Snm1 is induced by DNA damages. Biochem. Biophys. Res. Commun. 329: 668-672. PMid:15737637 Kurumizaka H, Ikawa S, Nakada M, Eda K, et al. (2001). Homologous-pairing activity of the human DNA-repair proteins Xrcc3.Rad51C. Proc. Natl. Acad. Sci. U. S. A. 98: 5538-5543. PMid:11331762    PMCid:33248 Li L, Santerre-Ayotte S, Boivin EB, Jean M, et al. (2004). A novel reporter for intrachromosomal homoeologous recombination in Arabidopsis thaliana. Plant J. 40: 1007-1015. PMid:15584964 Li X and Moses RE (2003). The β-lactamase motif in Snm1 is required for repair of DNA double-strand breaks caused by interstrand crosslinks in S. cerevisiae. DNA Repair 2: 121-129. Li X, Hejna J and Moses RE (2005). The yeast Snm1 protein is a DNA 5’-exonuclease. DNA Repair 4: 163-170. PMid:15590324 Lyznik LA, McGee JD, Tung PY, Bennetzen JL, et al. (1991). Homologous recombination between plasmid DNA molecules in maize protoplasts. Mol. Gen. Genet. 230: 209-218. Molinier J, Stamm ME and Hohn B (2004). SNM-dependent recombinational repair of oxidatively induced DNA damage in Arabidopsis thaliana. EMBO Rep. 5: 994-999. PMid:15448639    PMCid:1299156 Orel N and Puchta H (2003). Differences in the processing of DNA ends in Arabidopsis thaliana and tobacco: possible implications for genome evolution. Plant Mol. Biol. 51: 523-531. PMid:12650618 Osakabe K, Yoshioka T, Ichikawa H and Toki S (2002). Molecular cloning and characterization of RAD51-like genes from Arabidopsis thaliana. Plant Mol. Biol. 50: 71-81. Puchta H and Hohn B (1991). A transient assay in plant cells reveals a positive correlation between extrachromosomal recombination rates and length of homologous overlap. Nucleic Acids Res. 19: 2693-2700. PMid:2041745    PMCid:328188 Reiss B, Klemm M, Kosak H and Schell J (1996). RecA protein stimulates homologous recombination in plants. Proc. Natl. Acad. Sci. U. S. A. 93: 3094-3098. Schuermann D, Molinier J, Fritsch O and Hohn B (2005). The dual nature of homologous recombination in plants. Trends Genet. 21: 172-181. PMid:15734576 Shaked H, Melamed-Bessudo C and Levy AA (2005). High-frequency gene targeting in Arabidopsis plants expressing the yeast RAD54 gene. Proc. Natl. Acad. Sci. U. S. A. 102: 12265-12269. PMid:16093317    PMCid:1189313 Shaked H, Avivi-Ragolsky N and Levy AA (2006). Involvement of the Arabidopsis SWI2/SNF2 chromatin remodeling gene family in DNA damage response and recombination. Genetics 173: 985-994. PMid:16547115    PMCid:1526515 Shalev G, Sitrit Y, Avivi-Ragolski N, Lichtenstein C, et al. (1999). Stimulation of homologous recombination in plants by expression of the bacterial resolvase RuvC. Proc. Natl. Acad Sci U. S. A. 96: 7398-7402. Tebbs RS, Zhao Y, Tucker JD, Scheerer JB, et al. (1995). Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene. Proc. Natl. Acad. Sci. U. S. A. 92: 6354-6358. Ursin VM, Irvine JM, Hiatt WR and Shewmaker CK (1991). Developmental analysis of elongation factor-1 alpha expression in transgenic tobacco. Plant Cell 3: 583-591. PMid:1841719    PMCid:160026
R. Marquis-Nicholson, Glamuzina, E., Prosser, D., Wilson, C., and Love, D. R., Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis, vol. 9. pp. 1483-1489, 2010.
Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, et al. (2008). The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am. J. Med. Genet. A 146A: 2885-2890. PMid:18925679 PMCid:2597641   Engel K, Hohne W and Haberle J (2009). Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum. Mutat. 30: 300-307. PMid:19006241   Häberle J, Pauli S, Linnebank M, Kleijer WJ, et al. (2002). Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Hum. Genet. 110: 327-333. PMid:11941481   Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, et al. (2003). Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol. Genet. Metab. 80: 302-306. PMid:14680976   Okayama N, Fujimura K, Nakamura J, Suehiro Y, et al. (2004). Evaluation of a new efficient procedure for single-nucleotide polymorphism genotyping: tetra-primer amplification refractory mutation system-polymerase chain reaction. Clin. Chem. Lab. Med. 42: 13-16. PMid:15061374   Sander J, Janzen N, Sander S, Steuerwald U, et al. (2003). Neonatal screening for citrullinaemia. Eur. J. Pediatr. 162: 417-420. PMid:12684898   Waisbren SE, Albers S, Amato S, Ampola M, et al. (2003). Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290: 2564-2572. PMid:14625333   Ye S, Dhillon S, Ke X, Collins AR, et al. (2001). An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 29: E88. PMid:11522844 PMCid:55900
F. Ashton, O’Connor, R., Love, J. M., Doherty, E., Aftimos, S., George, A., and Love, D. R., Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal, vol. 9. pp. 1815-1823, 2010.
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PMCid:1226091 Kohany O, Gentles AJ, Hankus L and Jurka J (2006). Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor. BMC Bioinformatics 7: 474. PMCid:1634758 Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, et al. (2008). Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum. Mutat. 29: 59-64. PMCid:2359628 Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, et al. (2007). Complete sex reversal in a WAGR syndrome patient. Am. J. Med. Genet. A 143A: 2692-2695. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, et al. (2007). Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J. Clin. Endocrinol. Metab. 92: 991-999. PMCid:1872053 Mallet D, Bretones P, Michel-Calemard L, Dijoud F, et al. (2004). 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