Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

Turner, Daniel J, Miretti, Marcos, Rajan, Diana, Fiegler, Heike, Carter, Nigel P, Blayney, Martyn L, Beck, Stephan, Hurles, Matthew E·2008·Nature Genetics

DOI 10.1038/ng.2007.40

Cited by (321)

Items 101–200 of 321

Copy number variation in the cattle genome
George E. Liu, Derek M. Bickhart · 2012 · Functional & Integrative Genomics
Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegans
Jason S Maydan, Adam H. Lorch, Mark L. Edgley, Stéphane Flibotte, Donald G. Moerman · 2010 · BMC Genomics
Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification
Renqian Du, Chuncheng Lu, Zhengwen Jiang, Shilin Li, Ruixiao Ma, Haijia An, Miaofei Xu, Yu An, Yankai Xia, Jin Li et al. · 2012 · Journal of Human Genetics
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
Maria Delio, Tingwei Guo, Donna M. McDonald‐McGinn, Elaine H. Zackai, Sean B. Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene B. Coleman, Carolyn C. Chow, Maria Jarlbrzkowski et al. · 2013 · The American Journal of Human Genetics
Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line
Robert Hinch, Peter Donnelly, Anjali Gupta Hinch · 2023 · Science
Allelic recombination between distinct genomic locations generates copy number diversity in human β-defensins
Suhaili Abu Bakar, Edward J. Hollox, John A.L. Armour · 2009 · Proceedings of the National Academy of Sciences
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
Ann-Britt Kiholm Lund, Hanne Dahlgaard Hove, Maria Kirchhoff · 2008 · European Journal of Medical Genetics
From meiosis to postmeiotic events: Homologous recombination is obligatory but flexible
Lóránt Székvölgyi, Alain G. Nicolas · 2009 · FEBS Journal
Detecting non-allelic homologous recombination from high-throughput sequencing data
Matthew Parks, Charles E. Lawrence, Benjamin J. Raphael · 2015 · Genome biology
Smith–Magenis syndrome: haploinsufficiency ofRAI1results in altered gene regulation in neurological and metabolic pathways
Sarah H. Elsea, Stephen R. Williams · 2011 · Expert Reviews in Molecular Medicine
Mechanisms of germ line genome instability
Seoyoung Kim, Shaun Peterson, Maria Jasin, Scott Keeney · 2016 · Seminars in Cell and Developmental Biology
Extrachromosomal circular DNA (eccDNA): an emerging star in cancer
Ruomeng Li, Ying Wang, Jing Li, Xikun Zhou · 2022 · Biomarker Research
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
Christèle Dubourg, Damien Sanlaville, Martine Doco‐Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth‐Bolard, Emilie Landais, Odile Boute, Nicole Philip et al. · 2010 · European Journal of Medical Genetics
The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements
Thierry Voet, Evelyne Vanneste, Joris Robert Vermeesch · 2011 · Cytogenetic and Genome Research
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
John C.K. Barber, Jill Anne Rosenfeld, Nicola C. Foulds, Sophie Laird, Mark S. Bateman, Nicholas Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil C. Anilkumar, Wendy E. Smith et al. · 2013 · American Journal of Medical Genetics Part A
Identification of copy number variation in French dairy and beef breeds using next-generation sequencing
Rabia Letaïef, Emmanuelle Rebours, Cécile Grohs, Cédric Meersseman, Sébastien Fritz, Lidwine Trouilh, Diane Esquerré, Johanna Barbieri, Christophe Klopp, Romain Philippe et al. · 2017 · Genetics Selection Evolution
Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication
Pengfei Liu, Violet Gelowani, Feng Zhang, Vivian E. Drory, Shay Ben‐Shachar, Erin K. Roney, Adam C. Medeiros, Rebecca Moore, Christina DiVincenzo, William Bryan Burnette et al. · 2014 · The American Journal of Human Genetics
The Y chromosome-linked copy number variations and male fertility
Csilla Gabriella Krausz, Chiara Chianese, Claudia Giachini, Elena Guarducci, Ilaria Laface, Gianni Forti · 2011 · Journal of Endocrinological Investigation
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation
Emmanuelle Masson, Cédric Le Maréchal, Richard Delcenserie, Jian‐Min Chen, Claude Férec · 2008 · Human Genetics
The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age
Jacqueline A. L. MacArthur, Tim D. Spector, Sarah Lindsay, Massimo Mangino, Raj Gill, Kerrin S. Small, Matthew E. Hurles · 2014 · PLoS Genetics
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
Christelle Borel, Fanny Cheung, Helen S. Stewart, David A. Koolen, Christopher Phillips, Nicholas Simon Thomas, Patricia A. Jacobs, Stephan Eliez M. D, Andrew J. Sharp · 2012 · Human Genetics
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E Wallace, Mark Hannibal, Michael F. Murray et al. · 2013 · Human Mutation
Copy number abnormalities in sporadic canine colorectal cancers
Jie Tang, Shoshona Le, Liang Tso Sun, Xiuzhen Yan, Mucheng Zhang, Jennifer MacLeod, Bruce E. LeRoy, Nicole C. Northrup, Angela E. Ellis, Timothy Joseph Yeatman et al. · 2010 · Genome Research
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Shirley S. W. Cheng, Kelvin Y.K. Chan, Kelphen K. P. Leung, Patrick K. C. Au, Wai‐Keung Tam, Samuel K. M. Li, Ho‐Ming Luk, Anita Sik Yau Kan, Brian Hon‐Yin Chung, Ivan F. M. Lo et al. · 2019 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Ece Dilber Gamsiz Uzun, Laura N. Sciarra, Abbie M. Maguire, Matthew F. Pescosolido, Laura I. van Dyck, Eric M. Morrow · 2015 · Neurotherapeutics
Generation of Tandem Direct Duplications by Reversed-Ends Transposition of Maize Ac Elements
Peifen Zhang, Tao Zuo, Thomas Peterson · 2013 · PLoS Genetics
Identification of Copy Number Variation Hotspots in Human Populations
Wenqing Fu, Feng Zhang, Yi Wang, Xun Gu, Jin Li · 2010 · The American Journal of Human Genetics
Replicative aging is associated with loss of genetic heterogeneity from extrachromosomal circular DNA in Saccharomyces cerevisiae
Iñigo Prada-Luengo, Henrik Devitt Møller, Rasmus Amund Henriksen, Qian Gao, Camilla Eggert Larsen, Sefa Alizadeh, Lasse Maretty, Jonathan M. Houseley, Birgitte Regenberg · 2020 · Nucleic Acids Research
Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
Olga Žilina, Tiia Reimand, Pille Tammur, Vallo Tillmann, Ants Kurg, Katrin Õunap · 2013 · European Journal of Medical Genetics
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
Francesca Novara, Silvana Beri, Maria Ester Bernardo, Riccardo Bellazzi, Alberto L. Malovini, Roberto Ciccone, Angela Maria Cometa, Franco Locatelli, Roberto Giorda, Orsetta Zuffardi · 2009 · Human Genetics
The Rate and Tract Length of Gene Conversion between Duplicated Genes
Sayaka P. Mansai, Tomoyuki Kado, Hideki Innan · 2011 · Genes
Most large structural variants in cancer genomes can be detected without long reads
Zi-Ning Choo, Julie M. Behr, Aditya S. Deshpande, Kevin Hadi, Xiaotong Yao, Huasong Tian, Kaori Takai, George Zakusilo, Joel A. Rosiene, Arnaud Da Cruz Paula et al. · 2023 · Nature Genetics
Recent advance in our understanding of the molecular nature of chromosomal abnormalities
Hiroki Kurahashi, Hasbaira Bolor, Takema Kato, Hiroshi Kogo, Makiko Tsutsumi, Hidehito Inagaki, Tamae Ohye · 2009 · Journal of Human Genetics
Challenges in studying genomic structural variant formation mechanisms: The short‐read dilemma and beyond
Megumi Onishi‐Seebacher, Jan O. Korbel · 2011 · BioEssays
Determining the evolutionary history of gene families
Ryan M. Ames, Daniel Money, Vikramsinh P. Ghatge, Simon Whelan, Simon C. Lovell · 2011 · Bioinformatics
Disorders of the genome architecture: a review
Dhavendra Kumar · 2008 · Genomic Medicine
Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
Jonathan S. Berg, Lorraine Potocki, Carlos A. Bacino · 2010 · American Journal of Medical Genetics Part A
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders
Timothy P. Rutkowski, Jason P. Schroeder, Georgette M. Gafford, Stephen T. Warren, David Weinshenker, Tamara Caspary, Jennifer G. Mullé · 2016 · Journal of Neuroscience Research
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features
Abdelmoity, Ahmed T., LePichon, Jean-Baptiste, Nyp, Sarah S., Soden, Sarah E., Daniel, Carol A., Yu, Shihui · 2012 · Journal of Developmental & Behavioral Pediatrics
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients
Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto L. P. Mazzaschi, Paula Moverley, Rachel O’Connor, Methat Qorri, Karen L. Sheath et al. · 2016 · Molecular Cytogenetics
Structural variation of the human genome: mechanisms, assays, and role in male infertility
Claudia M.B. Carvalho, Feng Zhang, James R. Lupski · 2011 · Systems Biology in Reproductive Medicine
In with the Old, in with the New: The Promiscuity of the Duplication Process Engenders Diverse Pathways for Novel Gene Creation
Vaishali Katju · 2012 · International Journal of Evolutionary Biology
Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants
Morteza Vaez, Simone Montalbano, Xabier Calle Sánchez, Kajsa-Lotta Georgii Hellberg, Saeid Rasekhi Dehkordi, Morten Dybdahl Krebs, Joeri J. Meijsen, John R. Shorter, Jonas Bybjerg‐Grauholm, Preben Bo Mortensen et al. · 2024 · JAMA Psychiatry
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions
Angelika C. Roehl, Josef Albert Vogt, Tanja Mußotter, Antje Maria Zickler, Helene Spöti, Josef Högel, Nadia A Chuzhanova, Katharina Wimmer, Lan Kluwe, Victor‐Felix Mautner et al. · 2010 · Human Mutation
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome
Erica Hasten, Donna M. McDonald‐McGinn, Terrence Blaine Crowley, Elaine H. Zackai, Beverly S. Emanuel, Bernice E. Morrow, Silvia E. Racedo · 2018 · Human Molecular Genetics
Clinical detection of deletion structural variants in whole-genome sequences
Aaron C Noll, Neil Miller, Laurie D. Smith, Byunggil Yoo, Stephanie D. Fiedler, Linda D. Cooley, Laurel K. Willig, Josh E Petrikin, Julie A. Cakici, John G. Lesko et al. · 2016 · npj Genomic Medicine
Age-Dependent De Novo Mutations During Spermatogenesis and Their Consequences
Francesca Cioppi, Elena Casamonti, Csilla Gabriella Krausz · 2019 · Advances in experimental medicine and biology
Clan genomics: From OMIM phenotypic traits to genes and biology
James R. Lupski · 2021 · American Journal of Medical Genetics Part A
Copy Number Changes of CNV Regions in Intersubspecific Crosses of the House Mouse
Rick J. Scavetta, Diethard Tautz · 2010 · Molecular Biology and Evolution
Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders
Janani S. Iyer, Santhosh Girirajan · 2015 · Briefings in Functional Genomics
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci
Sylvia Redon, Jian‐Min Chen, Nadia A Chuzhanova, Caroline Bénech, Teresa Casals, Milan Maçek, Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Ourida Loumi et al. · 2010 · Human Mutation
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Ian S. Goldlust, Karen E. Hermetz, Lisa M. Catalano, Richard Barfield, Rebecca Cozad, Grace M. Wynn, Alev Cagla Ozdemir, Karen N. Conneely, Jennifer Gladys Mulle, Shikha Dharamrup et al. · 2013 · Proceedings of the National Academy of Sciences
Drosophila Duplication Hotspots Are Associated with Late-Replicating Regions of the Genome
Margarida Cardoso-Moreira, J. J. Emerson, Andrew G. Clark, Manyuan Long · 2011 · PLoS Genetics
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
Kimberly J. Moles, Gordon C. Gowans, Satyanarayana Gedela, David Quentin Beversdorf, Arthur Yu, Laurie H. Seaver, Roger Alan Schultz, Jill Anne Rosenfeld, Beth S. Torchia, Lisa G. Shaffer · 2012 · Genetics in Medicine
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions
Antje Maria Zickler, Stephanie Hampp, Ludwine M. Messiaen, Kathrin Bengesser, Tanja Mußotter, Angelika C. Roehl, Katharina Wimmer, Victor‐Felix Mautner, Lan Kluwe, Meena Upadhyaya et al. · 2011 · Human Mutation
Population Genetic Nature of Copy Number Variation
Per Sjödin, Mattias Jakobsson · 2011 · Methods in molecular biology
Elucidation of the complex structure and origin of the human trypsinogen locus triplication
Anthony Chauvin, Jian‐Min Chen, Sylvia Quéméner, Emmanuelle Masson, Hildegard Kehrer‐Sawatzki, Barbara Ohmle, D.N. Cooper, Cédric Le Maréchal, Claude Férec · 2009 · Human Molecular Genetics
Lower Linkage Disequilibrium at CNVs is due to Both Recurrent Mutation and Transposing Duplications
Daniel R. Schrider, Matthew W. Hahn · 2009 · Molecular Biology and Evolution
Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population
Charles Coutton, Farid Abada, Thomas Karaouzène, Damien Sanlaville, Véronique Satre, Joël Lunardi, Pierre‐Simon Jouk, Christophe Arnoult, Nicolas Thierry‐Mieg, Pierre F. Ray · 2013 · PLoS Genetics
Identification of recurrent type-2NF1microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
Julia Vogt, Tanja Mußotter, Kathrin Bengesser, Kathleen Claes, Josef Högel, Nadia A Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor‐Felix Mautner, D.N. Cooper et al. · 2012 · Human Mutation
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
Caroline Mackie Ogilvie, Joo Ahn, Kathy Mann, Roland G. Roberts, Frances A. Flinter · 2009 · Molecular Cytogenetics
Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC) and its application for DNA methylation analysis
Eleni M. Tomazou, Vardhman K. Rakyan, Gregory C. Lefebvre, Robert Andrews, Peter Ellis, David K. Jackson, Cordelia Langford, Matthew D Francis, Liselotte Bäckdahl, Marcos Mateo Miretti et al. · 2008 · BMC Medical Genomics
Changes in genome content generated via segregation of non‐allelic homologs
Sanzhen Liu, Kai Ying, Cheng‐Ting Yeh, Jinliang Yang, Ruth A. Swanson-Wagner, Wei Wu, Todd Richmond, Daniel J. Gerhardt, Jinsheng Lai, Nathan M. Springer et al. · 2012 · The Plant Journal
Phenotypic instability of Arabidopsis alleles affecting a disease Resistance gene cluster
Hankuil Yi, Eric J. Richards · 2008 · BMC Plant Biology
Signals of Historical Interlocus Gene Conversion in Human Segmental Duplications
Beth L. Dumont, Evan E. Eichler · 2013 · PLoS ONE
The other side of the coin: Hypersociability
Miklós Tóth · 2018 · Genes Brain & Behavior
Multi‐Invasion‐Induced Rearrangements as a Pathway for Physiological and Pathological Recombination
Aurèle Piazza, Wolf‐Dietrich Heyer · 2018 · BioEssays
Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137
Emília Costa, Irene Plaza Pinto, Macks Wendhell Gonçalves, Juliana Ferreira da Silva, Lorraynne Guimarães Oliveira, Alex Silva da Cruz, Daniela de Melo e Silva, Cláudio Carlos da Silva, Rinaldo Wellerson Pereira, Aparecido Divino da Cruz · 2018 · Scientific Reports
Genome-Wide Signatures of ‘Rearrangement Hotspots’ within Segmental Duplications in Humans
Mohammed J. Uddin, Mitch Sturge, Lynette Peddle, Darren D. O’Rielly, Proton Rahman · 2011 · PLoS ONE
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Andy Itsara, Lisenka E.L.M. Vissers, Karyn Meltz Steinberg, Kevin J. Meyer, Michael C. Zody, David A. Koolen, Joep de Ligt, Edwin P. J. G. Cuppen, Carl A. Baker, Choli Lee et al. · 2012 · The American Journal of Human Genetics
A Model for Genome Size Evolution
Stephan Fischer, Samuel Bernard, Guillaume Beslon, Carole Knibbe · 2014 · Bulletin of Mathematical Biology
Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves)
Sharmila Ghosh, P. J. Das, Cole M. McQueen, V. Gerber, Cyprianna E. Swiderski, Jean‐Pierre Lavoie, B.P. Chowdhary, Terje Raudsepp · 2016 · Animal Genetics
Genome diversity and instability in human germ cells and preimplantation embryos
Vallari Shukla, Miya Kudo Høffding, Eva R. Hoffmann · 2021 · Seminars in Cell and Developmental Biology
Initiation of Meiotic Recombination in Mammals
Rajeev Kumar, Bernard de Massy · 2010 · Genes
Molecular mechanisms of extrachromosomal circular DNA formation
Rasmus A B Eugen-Olsen, Judith Mary Hariprakash, Vibe H. Oestergaard, Birgitte Regenberg · 2025 · Nucleic Acids Research
The Evolutionary Fates of a Large Segmental Duplication in Mouse
Andrew Parker Morgan, James Holt, Rachel McMullan, Timothy A. Bell, Amelia M.-F. Clayshulte, John P. Didion, Liran Yadgary, David Thybert, Duncan T. Odom, Paul Flicek et al. · 2016 · Genetics
Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review
Katrina Savory, Susruta Manivannan, Malik Zaben, Orhan Uzun, Yasir Ahmed Syed · 2019 · Neuroscience & Biobehavioral Reviews
Identification and characterization of extrachromosomal circular DNA in patients with high myopia and cataract
Kai Wen, Lujie Zhang, Yang Cai, Teng He, Jingli Liang, Yi Yue, Yaoling Li, Yifang Huang, Ming Liu, Yufeng Zhang et al. · 2023 · Epigenetics
Comparative analysis of copy number variation detection methods and database construction
Asako Koike, Nao Nishida, Daiki Yamashita, Katsushi Tokunaga · 2011 · BMC Genetics
A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
Martin Poot, Ron Hochstenbach · 2010 · Genetics in Medicine
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms
Weichen Zhou, Feng Zhang, Xiaoli Chen, Yiping Shen, James R. Lupski, Jin Li · 2013 · Human Molecular Genetics
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome
Laia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany‐Schmidt, M. Oliver‐Bonet, Joan Blanco · 2017 · Scientific Reports
Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data1
Pierce Rafter, Deirdre C. Purfield, Donagh Pearse Berry, Andrew C. Parnell, Isobel Claire Gormley, John F. Kearney, Mike P. Coffey, Tara R. Carthy · 2018 · Journal of Animal Science
Characterization of copy number‐stable regions in the human genome
Anna Johansson, Lars Feuk · 2011 · Human Mutation
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences
Anna Summerer, Victor‐Felix Mautner, Meena Upadhyaya, Kathleen Claes, Josef Högel, D.N. Cooper, Ludwine M. Messiaen, Hildegard Kehrer‐Sawatzki · 2018 · Human Genetics
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome
Zhe Sun, Pengfei Liu, Xueyuan Jia, Marjorie A. Withers, Jin Li, James R. Lupski, Feng Zhang · 2012 · Human Molecular Genetics
Analysis of copy number variations in Holstein-Friesian cow genomes based on whole-genome sequence data
Magda Mielczarek, Magdalena Frąszczak, Riccardo Giannico, Giulietta Minozzi, John Lewis Williams, Katarzyna Wojdak-Maksymiec, Joanna Szyda · 2017 · Journal of Dairy Science
Landscape of copy number variations in Bos taurus: individual – and inter-breed variability
Magda Mielczarek, Magdalena Frąszczak, Ezequiel Luís Nicolazzi, John Lewis Williams, Joanna Szyda · 2018 · BMC Genomics
Prevalence of Pancreatic Diabetes in Patients Carrying Mutations or Polymorphisms of the PRSS1 Gene in the Han Population
Qicai Liu, Ze-hao Zhuang, Kai Zeng, Zu-jian Cheng, Feng Gao, Zhiqiang Wang · 2009 · Diabetes Technology & Therapeutics
Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds
Sheikh Firdous Ahmad, Celus Chandrababu Shailaja, Sakshi Vaishnav, Amit Kumar, Gyanendra Kumar Gaur, Sarath Chandra Janga, Syed Mudasir Ahmad, Waseem Akram Malla, Triveni Dutt · 2023 · BMC Genomics
Can mechanistic constraints on recombination reestablishment explain the long-term maintenance of degenerate sex chromosomes?
Thomas Lenormand, Denis Roze · 2024 · Peer Community Journal
Dynamics and processes of copy number instability in human γ-globin genes
Rita Neumann, Victoria E. Lawson, Alec J. Jeffreys · 2010 · Proceedings of the National Academy of Sciences
Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population
Zhipeng Wang, Yuanyuan Guo, Tao Wang, Chaoxin Zhang, Shengwei Liu, Bing Zhang, Xue Li, Li'ang Yang, Qiusi Zhu, Wenwen Wang et al. · 2021 · Frontiers in Genetics
Genome-wide analysis of copy number variations in Chinese sheep using array comparative genomic hybridization
Cheng-Lin Hou, Fanhua Meng, Wei Wang, Shenyuan Wang, Yan-Ping Xing, Jun-Wei Cao, Kaifeng Wu, Chunxia Liu, Dong Zhang, Yanru Zhang et al. · 2015 · Small Ruminant Research
Fine mapping of meiotic NAHR-associated crossovers causing largeNF1deletions
Morten Hillmer, David Wagner, Anna Summerer, Michaela Daiber, Victor‐Felix Mautner, Ludwine M. Messiaen, D.N. Cooper, Hildegard Kehrer‐Sawatzki · 2015 · Human Molecular Genetics
Introgression contributes to distribution of structural variations in cattle
Maulik R. Upadhyay, Martijn F. L. Derks, Göran Andersson, Ivica Međugorac, Martien A. M. Groenen, Richard P. M. A. Crooijmans · 2021 · Genomics
Evolutionary plasticity and cancer breakpoints in human chromosome 3
Aurora Ruiz‐Herrera, Terence J. Robinson · 2008 · BioEssays
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Bernd Wissinger, Britta Baumann, Elena Buena‐Atienza, Zeinab Ravesh, Artur V. Cideciyan, Katarína Štingl, Isabelle S. Audo, Isabelle Meunier, Béatrice Bocquet, Elias I. Traboulsi et al. · 2022 · Proceedings of the National Academy of Sciences
2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements
James R. Lupski · 2019 · The American Journal of Human Genetics
De novo copy number variants and parental age: Is there an association?
Isha Wadhawan, Yang Hai, Nastaran Foyouzi Yousefi, Xiuqing Guo, John M. Graham, Jill Anne Rosenfeld · 2019 · European Journal of Medical Genetics