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@article{Kidd2010,
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doi = {10.1016/j.cell.2010.10.027},
journal = {Cell},
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publisher = {Elsevier Inc.},
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url = {http://dx.doi.org/10.1016/j.cell.2010.10.027},
volume = {143},
year = {2010},
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@article{Bailey2003,
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doi = {10.1086/378594},
journal = {American journal of human genetics},
month = {oct},
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title = {{An Alu transposition model for the origin and expansion of human segmental duplications.}},
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journal = {Science (New York, N.Y.)},
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title = {{Paired-end mapping reveals extensive structural variation in the human genome.}},
type = {Journal article},
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doi = {10.1016/j.ajhg.2016.05.014},
journal = {American Journal of Human Genetics},
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pages = {1208--1219},
publisher = {The Author(s)},
title = {{Mosaic Loss of Chromosome y in Blood Is Associated with Alzheimer Disease}},
url = {http://dx.doi.org/10.1016/j.ajhg.2016.05.014},
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doi = {10.1086/505915},
journal = {American journal of human genetics},
month = {sep},
number = {3},
pages = {439--48},
title = {{A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.}},
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doi = {10.1016/j.ajhg.2012.10.018},
journal = {American Journal of Human Genetics},
number = {6},
pages = {1033--1040},
publisher = {The American Society of Human Genetics},
title = {{Differential relationship of DNA replication timing to different forms of human mutation and variation}},
url = {http://dx.doi.org/10.1016/j.ajhg.2012.10.018},
volume = {91},
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@article{Brand2015,
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doi = {10.1016/j.ajhg.2015.05.012},
journal = {American journal of human genetics},
month = {jul},
number = {1},
pages = {170--6},
title = {{Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.}},
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volume = {97},
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doi = {10.1016/j.ajhg.2013.04.012},
journal = {American Journal of Human Genetics},
month = {jun},
number = {6},
pages = {974--980},
title = {{Germline BAP1 mutations predispose to renal cell carcinomas}},
volume = {92},
year = {2013},
}
@article{Sen2006,
author = {Shurjo K Sen and Kyudong Han and Jianxin Wang and Jungnam Lee and Hui Wang and Pauline a Callinan and Matthew Dyer and Richard Cordaux and Ping Liang and Mark a Batzer},
doi = {10.1086/504600},
journal = {American journal of human genetics},
month = {jul},
number = {1},
pages = {41--53},
title = {{Human genomic deletions mediated by recombination between Alu elements.}},
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doi = {10.1016/j.ajhg.2009.03.010},
journal = {American Journal of Human Genetics},
number = {4},
pages = {524--533},
publisher = {The American Society of Human Genetics},
title = {{DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources}},
url = {http://dx.doi.org/10.1016/j.ajhg.2009.03.010},
volume = {84},
year = {2009},
}
@article{Heinzen2010,
author = {Erin L. Heinzen and Rodney A. Radtke and Thomas J. Urban and Gianpiero L. Cavalleri and Chantal Depondt and Anna C. Need and Nicole M. Walley and Paola Nicoletti and Dongliang Ge and Claudia B. Catarino and John S. Duncan and Dalia Kasperavici?te and Sarah K. Tate and Luis O. Caboclo and Josemir W. Sander and Lisa Clayton and Kristen N. Linney and Kevin V. Shianna and Curtis E. Gumbs and Jason Smith and Kenneth D. Cronin and Jessica M. Maia and Colin P. Doherty and Massimo Pandolfo and David Leppert and Lefkos T. Middleton and Rachel A. Gibson and Michael R. Johnson and Paul M. Matthews and David Hosford and Reetta K{\"a}lvi{\"a}inen and Kai Eriksson and Anne-Mari Kantanen and Thomas Dorn and J{\"o}rg Hansen and G{\"u}nter Kr{\"a}mer and Bernhard J. Steinhoff and Heinz-Gregor Wieser and Dominik Zumsteg and Marcos Ortega and Nicholas W. Wood and Julie Huxley-Jones and Mohamad Mikati and William B. Gallentine and Aatif M. Husain and Patrick G. Buckley and Ray L. Stallings and Mihai V. Podgoreanu and Norman Delanty and Sanjay M. Sisodiya and David B. Goldstein},
doi = {10.1016/j.ajhg.2010.03.018},
journal = {American journal of human genetics},
month = {may},
number = {5},
pages = {707--18},
title = {{Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.}},
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doi = {10.1016/j.ajhg.2015.11.023},
journal = {American Journal of Human Genetics},
number = {1},
pages = {58--74},
publisher = {The American Society of Human Genetics},
title = {{Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA}},
url = {http://dx.doi.org/10.1016/j.ajhg.2015.11.023},
volume = {98},
year = {2016},
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@article{Fromer2012,
author = {Menachem Fromer and Jennifer L Moran and Kimberly Chambert and Eric Banks and Sarah E Bergen and Douglas M Ruderfer and Robert E Handsaker and Steven a McCarroll and Michael C O'Donovan and Michael J Owen and George Kirov and Patrick F Sullivan and Christina M Hultman and Pamela Sklar and Shaun M Purcell},
doi = {10.1016/j.ajhg.2012.08.005},
journal = {American journal of human genetics},
month = {oct},
number = {4},
pages = {597--607},
publisher = {The American Society of Human Genetics},
title = {{Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.}},
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year = {2012},
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doi = {10.1016/j.ajhg.2012.07.004},
journal = {American Journal of Human Genetics},
number = {3},
pages = {408--421},
publisher = {The American Society of Human Genetics},
title = {{Using ERDS to infer copy-number variants in high-coverage genomes}},
url = {http://dx.doi.org/10.1016/j.ajhg.2012.07.004},
volume = {91},
year = {2012},
}
@article{Wong2013,
author = {Lai-Ping Wong and Rick Twee-Hee Ong and Wan-Ting Poh and Xuanyao Liu and Peng Chen and Ruoying Li and Kevin Koi-Yau Lam and Nisha Esakimuthu Pillai and Kar-Seng Sim and Haiyan Xu and Ngak-Leng Sim and Shu-Mei Teo and Jia-Nee Foo and Linda Wei-Lin Tan and Yenly Lim and Seok-Hwee Koo and Linda Seo-Hwee Gan and Ching-Yu Cheng and Sharon Wee and Eric Peng-Huat Yap and Pauline Crystal Ng and Wei-Yen Lim and Richie Soong and Markus Rene Wenk and Tin Aung and Tien-Yin Wong and Chiea-Chuen Khor and Peter Little and Kee-Seng Chia and Yik-Ying Teo},
doi = {10.1016/j.ajhg.2012.12.005},
journal = {American journal of human genetics},
month = {jan},
number = {1},
pages = {52--66},
publisher = {The American Society of Human Genetics},
title = {{Deep whole-genome sequencing of 100 southeast Asian Malays.}},
url = {http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3542459{\&}tool=pmcentrez{\&}rendertype=abstract},
volume = {92},
year = {2013},
}
@article{Sanchez-Valle2010,
author = {Amarilis Sanchez-Valle and Xueqing Wang and Lorraine Potocki and Zhilian Xia and Sung-Hae L Kang and Mary E Carlin and Donnice Michel and Patricia Williams and Gerardo Cabrera-Meza and Ellen K Brundage and Anna L Eifert and Pawel Stankiewicz and Sau Wai Cheung and Seema R Lalani},
doi = {10.1002/ajmg.a.33686},
journal = {American journal of medical genetics. Part A},
month = {nov},
number = {11},
pages = {2854--60},
title = {{HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.}},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20979191 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC3605882},
volume = {152A},
year = {2010},
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author = {Samuel F. Berkovic and R. Anne Howell and David A. Hay and John L. Hopper},
doi = {10.1002/ana.410430405},
journal = {Annals of Neurology},
month = {apr},
number = {4},
pages = {435--445},
title = {{Epilepsies in twins: Genetics of the major epilepsy syndromes}},
volume = {43},
year = {1998},
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@article{Mefford2011,
author = {Heather C. Mefford and Simone C. Yendle and Cynthia Hsu and Joseph Cook and Eileen Geraghty and Jacinta M. McMahon and Orvar Eeg-Olofsson and Lynette G. Sadleir and Deepak Gill and Bruria Ben-Zeev and Tally Lerman-Sagie and Mark MacKay and Jeremy L. Freeman and Eva Andermann and James T. Pelakanos and Ian Andrews and Geoffrey Wallace and Evan E. Eichler and Samuel F. Berkovic and Ingrid E. Scheffer},
doi = {10.1002/ana.22645},
eprint = {NIHMS150003},
journal = {Annals of Neurology},
month = {dec},
number = {6},
pages = {974--985},
title = {{Rare copy number variants are an important cause of epileptic encephalopathies}},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22190369 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC3245646 http://doi.wiley.com/10.1002/ana.22645},
volume = {70},
year = {2011},
}
@article{Mefford2015,
author = {Heather Mefford},
doi = {10.1002/ana.24457},
journal = {Annals of Neurology},
month = {aug},
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