Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kääriäinen, H. A., et al. (1989) · Europe PMC (PubMed Central) · Cited by 958 · see citing works

RuvAB Acts at Arrested Replication Forks

Seigneur, M., Bidnenko, V., Ehrlich, S. D., & Michel, B. (1998) · Cell · doi:10.1016/s0092-8674(00)81772-9 · Cited by 538 · see citing works

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

den Dunnen, J. T., Grootscholten, P. M., Bakker, E., Blonden, L. A. J., Ginjaar, H. B., Wapenaar, M. C., van Paassen, H. M. B., Broeckhoven, C. V., Pearson, P. L., & van Ommen, G. B. (1989) · Europe PMC (PubMed Central) · Cited by 504 · see citing works

Intrinsically bent DNA.

Crothers, D. M., Haran, T. E., & Nadeau, J. G. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)39080-5 · Cited by 427 · see citing works

DNA recombination: the replication connection

Haber, J. E. (1999) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01413-9 · Cited by 412 · see citing works

Recombination at the human α-globin gene cluster: Sequence features and topological constraints

Nicholls, R. D., Fischel‐Ghodsian, N., & Higgs, D. R. (1987) · Cell · doi:10.1016/0092-8674(87)90289-3 · Cited by 345 · see citing works

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Reiter, L. T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D. M., Gibbs, R. A., & Lupski, J. R. (1996) · Nature Genetics · doi:10.1038/ng0396-288 · Cited by 295 · see citing works

Intron evolution as a population-genetic process

Lynch, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.092595699 · Cited by 288 · see citing works

Genomic integrity and the repair of double-strand DNA breaks

Pastink, A., Eeken, J. C. J., & Lohman, P. H. M. (2001) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(01)00167-1 · Cited by 247 · see citing works

Curved DN

Trifonov, E. N. (1985) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238509082540 · Cited by 236 · see citing works

Unexpected relationships between four large deletions in the human β-globin gene cluster

Vanin, E. F., Henthom, P. S., Kioussis, D., Grosveld, F. G., & Smithies, O. (1983) · Cell · doi:10.1016/0092-8674(83)90103-4 · Cited by 210 · see citing works

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

Forrest, S. M., Cross, G. S., Speer, A., Gardner‐Medwin, D., Burn, J., & Davies, K. E. (1987) · Nature · doi:10.1038/329638a0 · Cited by 197 · see citing works

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

den Dunnen, J. T., Bakker, E., Klein-Breteler, E., Pearson, P. L., & van Ommen, G. B. (1987) · Nature · doi:10.1038/329640a0 · Cited by 188 · see citing works

Mathematical model to predict regions of chromatin attachment to the nuclear matrix

Singh, G. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.7.1419 · Cited by 185 · see citing works

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Darras, B. T., Blattner, P., Harper, J. F., Spiro, A. J., Alter, S., & Francke, U. (1988) · Europe PMC (PubMed Central) · Cited by 159 · see citing works

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease 1 1Edited by J. Karn

Burwinkel, B., & Kilimann, M. W. (1998) · Journal of Molecular Biology · doi:10.1006/jmbi.1998.1641 · Cited by 138 · see citing works

Scaffold/Matrix-Attached Regions: Topological Switches with Multiple Regulatory Functions

Bode, J., Stengert, M., Kay, V., Schlake, T., & Dietz‐Pfeilstetter, A. (1996) · Critical Reviews in Eukaryotic Gene Expression · doi:10.1615/critreveukargeneexpr.v6.i2-3.20 · Cited by 131 · see citing works

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

Oudet, C. L., Hanauer, A., Clemens, P. R., Caskey, C. T., & Mandel, J. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.8.599 · Cited by 123 · see citing works

Molecular analysis of deletions in the human β-globin gene cluster: Deletion junctions and locations of breakpoints

Henthorn, P. S., Smithies, O., & Mager, D. L. (1990) · Genomics · doi:10.1016/0888-7543(90)90561-8 · Cited by 116 · see citing works

Capture of DNA Sequences at Double-Strand Breaks in Mammalian Chromosomes

Lin, Y., & Waldman, A. S. (2001) · Genetics · doi:10.1093/genetics/158.4.1665 · Cited by 113 · see citing works

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

Abbs, S. J., Roberts, R. G., Mathew, C. G., Bentley, D., & Bobrow, M. (1990) · Genomics · doi:10.1016/0888-7543(90)90205-9 · Cited by 103 · see citing works

Site-specific cleavage of a DNA hairpin by topoisomerase II. DNA secondary structure as a determinant of enzyme recognition/cleavage.

Froelich-Ammon, S. J., Gale, K. C., & Osheroff, N. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37346-5 · Cited by 87 · see citing works

Variable deletion and duplication at recombination junction ends: Implication for staggered double-strand cleavage in class-switch recombination

Chen, X., Kinoshita, K., & Honjo, T. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.241524898 · Cited by 79 · see citing works

Nonhomologous DNA end joining in cell‐free systems

Labhart, P. (1999) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1999.00805.x · Cited by 75 · see citing works

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

Love, D. R., England, S., Speer, A., Marsden, R. F., Bloomfield, J. F., Roche, A., Cross, G. S., Mountford, R., Smith, T., & Davies, K. E. (1991) · Genomics · doi:10.1016/0888-7543(91)90484-v · Cited by 73 · see citing works

Non-homologous end joining as a mechanism of DNA repair

Barnes, D. E. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00279-2 · Cited by 64 · see citing works

Analysis of 22 deletion breakpoints in dystrophin intron 49

Nobile, C., Toffolatti, L., Rizzi, F., Simionati, B., Nigro, V., Cardazzo, B., Patarnello, T., Valle, G., & Danieli, G. A. (2002) · Human Genetics · doi:10.1007/s00439-002-0721-7 · Cited by 64 · see citing works

The Evolution of an Intron: Analysis of a Long, Deletion-Prone Intron in the Human Dystrophin Gene

McNaughton, J. C., Hughes, G., Jones, W. A., Stockwell, P. A., Klamut, H. J., & Petersen, G. B. (1997) · Genomics · doi:10.1006/geno.1996.4543 · Cited by 63 · see citing works

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

Blonden, L. A. J., Grootscholten, P. M., den Dunnen, J. T., Bakker, E., Abbs, S. J., Bobrow, M., Boehm, C. D., Broeckhoven, C. V., Baumbach, L. L., Chamberlain, J. S., et al. (1991) · Genomics · doi:10.1016/0888-7543(91)90445-k · Cited by 50 · see citing works

Exon–Intron Organization of the Human Dystrophin Gene

Nobile, C., Marchi, J., Nigro, V., Roberts, R. G., & Danieli, G. A. (1997) · Genomics · doi:10.1006/geno.1997.4911 · Cited by 47 · see citing works

The role of DNA polymerase activity in human non-homologous end joining

Pospiech, H. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.15.3277 · Cited by 39 · see citing works

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene

McNaughton, J. C., Cockburn, D. J., Hughes, G., Jones, W. A., Laing, N. G., Ray, P. N., Stockwell, P. A., & Petersen, G. B. (1998) · Gene · doi:10.1016/s0378-1119(98)00466-1 · Cited by 38 · see citing works

Copy number variation in human health, disease, and evolution

Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207 · see citing works

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Muntoni, F., Torelli, S., & Ferlini, A. (2003) · The Lancet Neurology · doi:10.1016/s1474-4422(03)00585-4 · Cited by 1,123 · see citing works

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914 · see citing works

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works

Mechanisms for human genomic rearrangements

Gu, W., Zhang, F., & Lupski, J. R. (2008) · PathoGenetics · doi:10.1186/1755-8417-1-4 · Cited by 707 · see citing works

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

Yatsenko, A. N., Georgiadis, A. P., Röpke, A., Berman, A. J., Jaffe, T., Olszewska, M., Westernströer, B., Sanfilippo, J. S., Kurpisz, M. K., Rajkovic, A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1406192 · Cited by 346 · see citing works

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Carvalho, C. M. B., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C. A., Shaw, C. A., Peacock, S., Pursley, A. N., Tavyev, Y. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp151 · Cited by 198 · see citing works

The molecular basis of quantitative fibrinogen disorders

Asselta, R., Duga, S., & Tenchini, M. (2006) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2006.02094.x · Cited by 155 · see citing works

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

Hara, K., Shiga, A., Nozaki, H., Mitsui, J., Takahashi, Y., Ishiguro, H., Yomono, H., Kurisaki, H., Goto, J., Ikeuchi, T., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000311277.71046.a0 · Cited by 143 · see citing works

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Cooper, D. N., Bacolla, A., Férec, C., Vásquez, K. M., Kehrer‐Sawatzki, H., & Chen, J. (2011) · Human Mutation · doi:10.1002/humu.21557 · Cited by 133 · see citing works

A portrait of copy-number polymorphism in Drosophila melanogaster

Dopman, E. B., & Hartl, D. L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0709888104 · Cited by 136 · see citing works

Mechanisms of structural chromosomal rearrangement formation

Burssed, B., Zamariolli, M., Bellucco, F. T. D. S., & Melaragno, M. I. (2022) · Molecular Cytogenetics · doi:10.1186/s13039-022-00600-6 · Cited by 135 · see citing works

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

Shaw, C. J., & Lupski, J. R. (2004) · Human Genetics · doi:10.1007/s00439-004-1204-9 · Cited by 112 · see citing works

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

Woodward, K. J., Cundall, M., Sperle, K., Sistermans, E. A., Ross, M. T., Howell, G. R., Gribble, S. M., Burford, D. C., Carter, N. P., Hobson, D. L., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/498048 · Cited by 103 · see citing works

Antibody Class Switching Mediated by Yeast Endonuclease-Generated DNA Breaks

Zarrin, A. A., Fitz, C. D. V., Tseng, E., Gleason, M., Zarin, P., Tian, M., & Alt, F. W. (2006) · Science · doi:10.1126/science.1136386 · Cited by 98 · see citing works

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

del Gaudio, D., Yang, Y., Boggs, B. A., Schmitt, E. S., Lee, J. A., Sahoo, T., Pham, H. T., Wiszniewska, J., Chinault, A. C., Beaudet, A. L., et al. (2008) · Human Mutation · doi:10.1002/humu.20841 · Cited by 96 · see citing works

Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

Mitsui, J., Takahashi, Y., Goto, J., Tomiyama, H., Ishikawa, S., Yoshino, H., Minami, N., Smith, D. I., Lesage, S., Aburatani, H., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.006 · Cited by 91 · see citing works

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Férec, C., Casals, T., Chuzhanova, N. A., Maçek, M., Bienvenu, T., Holubová, A., King, C., McDevitt, T., Castellani, C., Farrell, P. M., et al. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201590 · Cited by 91 · see citing works

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Verdin, H., D′haene, B., Beysen, D., Novikova, Y., Menten, B., Sante, T., Lapunzina, P. D., Nevado, J., Carvalho, C. M. B., Lupski, J. R., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003358 · Cited by 85 · see citing works

Deletion of GPIHBP1 causing severe chylomicronemia

Rios, J. J., Shastry, S., Jasso, J. H. T., Hauser, N., Garg, A., Bensadoun, A., Cohen, J. C., & Hobbs, H. H. (2011) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9406-5 · Cited by 89 · see citing works

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

Spena, S., Duga, S., Asselta, R., Peyvandi, F., Mahasandana, C., Malcovati, M., & Tenchini, M. L. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201207 · Cited by 70 · see citing works

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

Balikova, I., Lehesjoki, A., de Ravel, T. J. L., Thienpont, B., Chandler, K., Clayton‐Smith, J., Träskelin, A. L., Fryns, J.-P., & Vermeesch, J. R. (2009) · Human Mutation · doi:10.1002/humu.21065 · Cited by 67 · see citing works

Deletion Polymorphism in Wheat Chromosome Regions With Contrasting Recombination Rates

Dvořák, J., Yang, Z.-L., You, F. M., & Luo, M. (2004) · Genetics · doi:10.1534/genetics.103.024927 · Cited by 60 · see citing works

Regional genomic instability predisposes to complex dystrophin gene rearrangements

Oshima, J., Magner, D. B., Lee, J. A., Breman, A. M., Schmitt, E. S., White, L. D., Crowe, C. A., Merrill, M. C., Jayakar, P., Rajadhyaksha, A., et al. (2009) · Human Genetics · doi:10.1007/s00439-009-0679-9 · Cited by 59 · see citing works

De Novo CNV Formation in Mouse Embryonic Stem Cells Occurs in the Absence of Xrcc4-Dependent Nonhomologous End Joining

Arlt, M. F., Rajendran, S., Birkeland, S. R., Wilson, T. E., & Glover, T. W. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002981 · Cited by 54 · see citing works

Ionizing radiation and genetic risks

Sankaranarayanan, K., & Wassom, J. S. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.06.020 · Cited by 51 · see citing works

Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

Chen, C., Ma, H., Zhang, F., Chen, L., Xing, X., Wang, S., Zhang, X., & Luo, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108038 · Cited by 41 · see citing works

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Dwianingsih, E. K., Malueka, R. G., Nishida, A., Itoh, K., Lee, T., Yagi, M., Iijima, K., Takeshima, Y., & Matsuo, M. (2014) · Journal of Human Genetics · doi:10.1038/jhg.2014.36 · Cited by 40 · see citing works

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions

Cavalieri, S., Funaro, A., Porcedda, P., Turinetto, V., Migone, N., Gatti, R. A., & Brusco, A. (2006) · Human Mutation · doi:10.1002/humu.9454 · Cited by 39 · see citing works

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Matés, J., Mademont‐Soler, I., del Olmo, B., Ferrer‐Costa, C., Coll, M., Pérez‐Serra, A., Picó, F., Allegue, C., Fernández-Falgueras, A., Álvarez, P., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0119-1 · Cited by 38 · see citing works

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3

Yang, R. K., Chen, B., Pfütze, K., Buch, S., Steinke, V., Holinski‐Feder, E., Stocker, S., Schönfels, W. V., Becker, T., Schackert, H. K., et al. (2013) · Carcinogenesis · doi:10.1093/carcin/bgt344 · Cited by 36 · see citing works

Decoding NF1 Intragenic Copy-Number Variations

Hsiao, M.-C., Piotrowski, A., Callens, T., Fu, C., Wimmer, K., Claes, K., & Messiaen, L. M. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.002 · Cited by 33 · see citing works

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

Esposito, G., Imperato, M. R., Ieno, L., Sorvillo, R., Benigno, V., Parenti, G., Parini, R., Vitagliano, L., Zagari, A., & Salvatore, F. (2010) · Human Mutation · doi:10.1002/humu.21359 · Cited by 33 · see citing works

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

Ishmukhametova, A., Kien, P. K. V., Méchin, D., Thorel, D., Vincent, M., Rivier, F., Coubes, C., Humbertclaude, V. T., Claustres, M., & Tuffery‐Giraud, S. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.51 · Cited by 29 · see citing works

Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45–55 of the Duchenne muscular dystrophy (DMD) gene

Miyazaki, D., Yoshida, K., Fukushima, K., Nakamura, A., Suzuki, K. N., Sato, T., Takeda, S., & Ikeda, S. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2008.8 · Cited by 25 · see citing works

A rapid PCR method for genotyping the Largemyd mouse, a model of glycosylation-deficient congenital muscular dystrophy

Browning, C. A., Grewal, P. K., Moore, C. J., & Hewitt, J. (2005) · Neuromuscular Disorders · doi:10.1016/j.nmd.2005.01.003 · Cited by 23 · see citing works

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4

Baskin, B., Gibson, W. T., & Ray, P. N. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2010.11.008 · Cited by 23 · see citing works

A novel 3017-bp deletion mutation in theFERMT1(KIND1) gene in a Chinese family with Kindler syndrome

Zhou, C., Song, S., & Zhang, J. (2009) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2009.09052.x · Cited by 22 · see citing works

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Esposito, G., Tremolaterra, M. R., Marsocci, E., Tandurella, I., Fioretti, T., Savarese, M., & Carsana, A. (2017) · Journal of Human Genetics · doi:10.1038/jhg.2017.84 · Cited by 20 · see citing works

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double‐strand breaks in yeast

Sironi, M., Pozzoli, U., Comi, G. P., Riva, S., Bordoni, A., Bresolin, N., & Nag, D. K. (2006) · The FASEB Journal · doi:10.1096/fj.05-5635fje · Cited by 19 · see citing works

Analysis of eighteen deletion breakpoints in the parkin gene

Asakawa, S., Hattori, N., Shimizu, A., Shimizu, Y., Minoshima, S., Mizuno, Y., & Shimizu, N. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.08.115 · Cited by 18 · see citing works

Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research

Sankaranarayanan, K., & Nikjoo, H. (2010) · International Journal of Radiation Biology · doi:10.3109/09553002.2010.518214 · Cited by 18 · see citing works

Molecular analysis of Duchenne Becker muscular dystrophy

Salvatore, F. (2010) · Frontiers in Bioscience-Elite · doi:10.2741/e113 · Cited by 18 · see citing works

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

Cagliani, R., Sironi, M., Ciafaloni, E., Bardoni, A., Fortunato, F., Prelle, A. C., Serafini, M., Bresolin, N., & Comi, G. P. (2004) · Human Genetics · doi:10.1007/s00439-004-1118-6 · Cited by 17 · see citing works

Sequence analysis of 17NRXN1deletions

Hoeffding, L. K., Hansen, T. F., Ingason, A., Doung, L., Thygesen, J. H., Møller, R. S., Tommerup, N., Kirov, G., Rujescu, D., Larsen, L. A., et al. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32204 · Cited by 15 · see citing works

Assessment of copy number variants in three Brazilian locally adapted cattle breeds using whole‐genome re‐sequencing data

Peripolli, E., Stafuzza, N. B., Machado, M. A., Panetto, J. C. D. C., do Egito, A. A., Baldi, F. S., & da Silva, M. V. G. B. (2023) · Animal Genetics · doi:10.1111/age.13298 · Cited by 16 · see citing works

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

Bedoyan, J. K., Lesperance, M. M., Ackley, T., Iyer, R. K., Innis, J. W., & Misra, V. K. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33751 · Cited by 15 · see citing works

Replication‐Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease

Seo, S. H., Bacolla, A., Yoo, D., Koo, Y. J., Cho, S. I., Kim, M. J., Seong, M., Kim, H., Kim, J., Tainer, J. A., et al. (2020) · Movement Disorders · doi:10.1002/mds.27998 · Cited by 15 · see citing works

Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism

Vazna, A., Havlovičová, M., & Sedláček, Z. (2007) · Gene · doi:10.1016/j.gene.2007.10.009 · Cited by 15 · see citing works

Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing

Geng, C., Tong, Y., Zhang, S., Ling, C., Wu, X., Wang, D., & Dai, Y. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.638220 · Cited by 13 · see citing works

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency

Guella, I., Paraboschi, E. M., van Schalkwyk, W. A., Asselta, R., & Duga, S. (2011) · Thrombosis and Haemostasis · doi:10.1160/th11-03-0149 · Cited by 13 · see citing works

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing

Xu, Y., Wang, H., Xiao, B., Wei, W., Liu, Y., Ye, H., Ying, X., Chen, Y., Liu, X., Ji, X., et al. (2017) · Gene · doi:10.1016/j.gene.2017.12.037 · Cited by 12 · see citing works

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene

Flanigan, K. M., Dunn, D. M., Larsen, C. A., Medne, L., Bönnemann, C. G., & Weiss, R. B. (2011) · Muscle & Nerve · doi:10.1002/mus.22226 · Cited by 12 · see citing works

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality

Gualandi, F., Rimessi, P., Cardazzo, B., Toffolatti, L., Dunckley, M. G., Calzolari, E., Patarnello, T., Francesco Muntoni, A., & Ferlini, A. (2003) · Gene · doi:10.1016/s0378-1119(03)00527-4 · Cited by 12 · see citing works

Two Non-Contiguous Duplications in theDMDGene in a Spanish Family

Fenollar‐Cortés, M., Gallego‐Merlo, J., Trujillo-Tiebas, M. J., Lorda‐Sánchez, I., & Ayuso, C. (2008) · Journal of Neurogenetics · doi:10.1080/01677060701686184 · Cited by 11 · see citing works

Linkage disequilibrium analysis of the human adenosine deaminase (ada) gene provides evidence for a lack of correlation between hot spots of equal and unequal homologous recombination.

Cruciani, F., Bernardini, L., Santolamazza, P., Modiano, D., Torroni, A., & Scozzari, R. (2003) · Genomics · doi:10.1016/s0888-7543(03)00096-x · Cited by 16 · see citing works

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Marey, I., Yaou, R. B., Deburgrave, N., Vasson, A., Nectoux, J., Leturcq, F., Eymard, B., Laforêt, P., Béhin, A., Stojkovic, T., et al. (2016) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-150134 · Cited by 9 · see citing works

A Systematic Review of the Advances and New Insights into Copy Number Variations in Plant Genomes

Silaiyiman, S., Liu, J., Wu, J., Ouyang, L., Cao, Z., & Shen, C. (2025) · Plants · doi:10.3390/plants14091399 · Cited by 6 · see citing works

Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells

Rossi, R., Torelli, S., Moore, M., Ala, P., Morgan, J. E., Malhotra, J. D., & Francesco Muntoni, A. (2024) · Skeletal Muscle · doi:10.1186/s13395-024-00360-4 · Cited by 6 · see citing works

Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome

Büki, G., Hadzsiev, K., & Bene, J. (2022) · Current Molecular Medicine · doi:10.2174/1566524022666220428111943 · Cited by 4 · see citing works

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy

Gamage, T. H., Misceo, D., Fannemel, M., & Frengen, E. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.04.005 · Cited by 4 · see citing works

Genetic Studies of Prader-Willi Patients Provide Evidence for Conservation of Genomic Architecture in Proximal Chromosome 15q

Hou, A., Lin, S., Ho, S. Y., Chen, C.-F. J., Lin, S.-P., Chen, Y.-J., Huang, C., Chiu, H., Chuang, C., & Chen, K. (2010) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2010.00633.x · Cited by 3 · see citing works

X Chromosome Rearrangements

Yen, P. H. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-039-3_17 · Cited by 1 · see citing works

Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders

Sakthivel, M. S. M. (2013) · Shodhganga · Cited by 1 · see citing works

Beyond the Cut: Long-read sequencing reveals complex genomic and transcriptomic changes in AAV-CRISPR therapy for Duchenne Muscular DystrophyPreprint

Jia, M. S., Padmaswari, M. H., Burcham, L. A., Agrawal, S., Bulliard, G. N., Stokes, A. L., & Nelson, C. E. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.01.668007 · Cited by 1 · see citing works

Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos diferenciais e caracterização de uma região crítica para obesidade

D’Angelo, C. S. (2009) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2009.tde-22102009-181757

Meiotic Behaviour of Chromosomes Involved in Structural Chromosomal Abnormalities Determined by Preimplantation Genetic Diagnosis

Xanthopoulou, L., & Ghevari, H. (2012) · InTech eBooks · doi:10.5772/30359

Genetic testing and chromosomal disorders

Vermeesch, J. R., & Buysse, K. (2012)

UNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODS

Kotysova, L., Petrovič, R., & Chandoga, J. (2014) · OnLine Journal of Biological Sciences · doi:10.3844/ojbsci.2014.218.229

Molekularzytogenetische Analysen zur Bedeutung des Inversionspolymorphismus in der Chromosomenregion 7q11.23 für die Entstehung des Williams-Beuren-Syndroms.

Frohnauer, J. (2011) · Multimedialen Archiv und Publikationsserver der Christian-Albrechts-Universität zu Kiel (Christian-Albrechts-Universität zu Kiel)

Detection of Mutation-Hotspots and Exon-Deletions using Digital Signal Processing in Duchenne Muscular Dystrophy (DMD) Gene

Meher, J. K., & Rath, A. K. (2014) · IOSR Journal of Dental and Medical Sciences · doi:10.9790/0853-13133439

4 Cytogenetic Testing and Chromosomal

Vermeesch, D. R., & Buysse, K. (2012)

COPY NUMBER VARIANT ANALYSIS OF PATIENTS WITH MALFORMATIONS OF CORTICAL DEVELOPMENT

Kolb, L. E. (2009) · Europe PMC (PubMed Central)

Identification of Cancer Susceptibility Loci by High-resolution Cancer Gene Microarray Analysis

Trick, S. J. (2014) · TSpace (University of Toronto)

Analysis of dystrophin point mutations

Foskett, P. (2005) · Enlighten: Theses (The University of Glasgow)

Template switching mechanism drives the tandem amplification of chromosome 20q11.21 in human pluripotent stem cellsPreprint

Halliwell, J. A., Baker, D., Judge, K., Quail, M. A., Oliver, K. L., Betteridge, E., Skelton, J., Andrews, P. W., & Barbaric, I. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.11.198382

Cytogenetic Testing and Chromosomal Disorders

Vermeesch, J. R., & Buysse, K. (2012) · Springer eBooks · doi:10.1007/978-3-642-02202-9_4

De novo meiotic recombination of chromosome 18q21.33q22.3 and 18q22.3q23 results in different chromosomal abnormalities among siblings with developmental and speech delay

Pon, J. Y. L., Chow, J. F. C., Chu, Y. W. Y., Au, C. W., Ho, S., Cheng, S. S. W., Kan, A. S. Y., & Luk, H. (2025) · BMJ connections. · doi:10.1136/bmjccgg-2024-000005

A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions

Klausegger, A., Leditzky, F., Kramer, S. M., Francis Palisson, E., Yubero, M. J., Véliz, S., Koh, M. J. A., Tan, E., Laimer, M., Bauer, J. W., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094237

Analyses des variations de nombres de copies de gènes candidats dans la polyarthrite rhumatoïde

Kilani, M. S. B. (2014) · theses.fr (ABES) · doi:10.70675/3548e323zbbdbz436ez889bzeea7d55d2ab5

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene

McNaughton, J. C., Cockburn, D. J., Hughes, G., Jones, W. A., Laing, N. G., Ray, P. N., Stockwell, P. A., & Petersen, G. B. (1998) · Gene · doi:10.1016/s0378-1119(98)00466-1 · Cited by 38 · see citing works

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double‐strand breaks in yeast

Sironi, M., Pozzoli, U., Comi, G. P., Riva, S., Bordoni, A., Bresolin, N., & Nag, D. K. (2006) · The FASEB Journal · doi:10.1096/fj.05-5635fje · Cited by 19 · see citing works

Analysis of 22 deletion breakpoints in dystrophin intron 49

Nobile, C., Toffolatti, L., Rizzi, F., Simionati, B., Nigro, V., Cardazzo, B., Patarnello, T., Valle, G., & Danieli, G. A. (2002) · Human Genetics · doi:10.1007/s00439-002-0721-7 · Cited by 64 · see citing works

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Marey, I., Yaou, R. B., Deburgrave, N., Vasson, A., Nectoux, J., Leturcq, F., Eymard, B., Laforêt, P., Béhin, A., Stojkovic, T., et al. (2016) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-150134 · Cited by 9 · see citing works

Cloning and sequencing of junction fragment with exons 45-54 deletion of dystrophin gene.

Zhong, M., Pan, S.-Y., Lu, B.-X., & Li, W. (2006) · PubMed · Cited by 4 · see citing works