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Structural variation in the 3D genome.

author

Malte Spielmann

1981 -

Darío G. Lupiáñez

Stefan Mundlos

1958 -

published in: Nature Reviews Genetics

date of publication: 2018-04-24

Cites articles 136

Date

Title

Authors

2018-02-05

Paediatric genomics: diagnosing rare disease in children.

David R. FitzPatrick, Helen V. Firth
2018-04-16

Polymer physics predicts the effects of structural variants on chromatin architecture.

Ana Pombo, Mario Nicodemi, Simona Bianco, Guillaume Andrey, Katerina Kraft, Andrea M Chiariello, Darío G. Lupiáñez, Carlo Annunziatella, Martin Vingron, Stefan Mundlos
2018-01-18

Ultraconserved Enhancers Are Required for Normal Development

Diane E. Dickel, Iros Barozzi, Brandon J Mannion, Marco Osterwalder, Len A. Pennacchio
2018-01-31

Enhancer redundancy provides phenotypic robustness in mammalian development.

Marco Osterwalder, Iros Barozzi, Virginie Tissières, Brandon J Mannion, Javier Lopez-Rios, Diane E. Dickel, Len A. Pennacchio
2017-11-06

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Joep de Ligt, Daniela Giachino, Jose Espejo Valle-Inclan, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall
2017-09-23

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Sascha Meiers, Laura Clarke, Ankit Malhotra, Li Guo, Diana C Spierings, Mark Bender Gerstein, Sergei Yakneen, Steven A McCarroll, Deanna M. Church, Fábio C P Navarro, Evan E. Eichler, Paul Flicek, Robert E Handsaker, Gabor T Marth, Fereydoun Hormozdiari, Mark J P Chaisson
2017-10-12

Noncoding copy-number variations are associated with congenital limb malformation

Malte Spielmann, Bjørt K Kragesteen, Aleksander Jamsheer, Ingo Kurth, Pablo Lapunzina, Denis Duboule, Anna Sowinska-Seidler, Stefan Mundlos, Denise Horn, Magdalena Socha, Ricarda Flöttmann, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann
2017-08-31

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Hanka Venselaar, Laurens Wiel, Joris A Veltman, Han G. Brunner
2017-09-28

Genomic Patterns of De Novo Mutation in Simplex Autism

Diane E. Dickel, Robert B. Darnell, Evan E. Eichler, Len A. Pennacchio, Fereydoun Hormozdiari, Bradley P. Coe
2017-01-25

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study
2017-06-27

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

Louise Harewood, Kamal Kishore, Matthew D Eldridge, Steven W Wingett, Peter Fraser
2017-08-28

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)

Axel Visel, Marco Osterwalder, Jean-Pierre de Villartay, Martin Vingron, Darío G. Lupiáñez, Stefan Mundlos
2017-04-27

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Thandiswa Ngcungcu, Bjørn Ivar Haukanes, Tomasz Stokowy, Kari M Ersland, Hans Van Bokhoven, Peter R Hull, Michèle Ramsay, Robert E. Bruccoleri, Han G. Brunner, Vidar M Steen
2017-07-01

The whole-genome landscape of medulloblastoma subtypes.

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2017-07-13

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Lynne M Bird, Michael E. Talkowski, Jonas Ibn-Salem, Fowzan S Alkuraya, Ranad Shaheen, Karen Gripp
2017-05-01

Targeted Degradation of CTCF Decouples Local Insulation of Chromosome Domains from Genomic Compartmentalization

Anton Goloborodko, Nezar Abdennur
2017-11-01

Bladder cancer: 4 big questions.
2016-04

Mechanisms underlying structural variant formation in genomic disorders

James R. Lupski
2016-10-31

Organization and function of the 3D genome
2016-11-09

Regulation of disease-associated gene expression in the 3D genome

Peter H L Krijger, Wouter de Laat
2016-11-28

Discovery and genotyping of structural variation from long-read haploid genome sequence data

Katherine M Munson, John Huddleston, Zev N Kronenberg, Evan E. Eichler, Mark J P Chaisson
2016-10-06

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Cisca Wijmenga, Cornelia M. van Duijn, André Uitterlinden, Gert-Jan van Ommen, Tobias Marschall, Joep de Ligt, Patrick Deelen, Victor Guryev, Morris A Swertz, Dorret Boomsma, Eline Slagboom, Abdel Abdellaoui, Evan E. Eichler, Fereydoun Hormozdiari, Bradley P. Coe
2016-03-23

Frequency and Complexity of De Novo Structural Mutation in Autism

Michael Baughn, Terry Solomon, Lilia M. Iakoucheva, Karen Pierce, Eric Courchesne, Alysson Muotri, Renius Owen, Charles M Strom
2016-06-20

Parent-of-origin-specific signatures of de novo mutations

Gustavo Glusman, John E. Niederhuber, Jakob M Goldmann, Michele Pinelli, Christian Gilissen, Joris A Veltman, Alexander Hoischen
2016-08-17

Analysis of protein-coding genetic variation in 60,706 humans

Michael Boehnke, Sekar Kathiresan, Jaakko Tuomilehto, Markku Laakso, Karol Estrada, Aarno Palotie, Taru Tukiainen, Danish Saleheen, Gad Getz, Roberto Elosua, Adam Kiezun, Joanne Berghout, Pradeep Natarajan, James Ware, Hong-Hee Won, Douglas M. Ruderfer, Hugh Christian Watkins, Kaitlin E Samocha, Dongmei Yu, Eric Minikel, Christina M. Hultman, Mark Joseph Daly, Stacey Gabriel, Steven A McCarroll, Dermot McGovern, Patrick F. Sullivan, James G. Wilson, Pamela Sklar, John Danesh, Lorena Orozco, Benjamin M. Neale, Valentin Ruano Rubio, Eric Banks, Laura D. Gauthier, Namrata Gupta, Grace Tiao, Jeremiah M Scharf, Diego Ardissino, David Altshuler, Gina M Peloso, Konrad J. Karczewski, Timothy R Fennell, Anne H O'Donnell-Luria, David N. Cooper, Daniel P Howrigan, Mark McCarthy, Shaun M Purcell, Daniel G. MacArthur, Mark DePristo, Monkol Lek, Jason Flannick, Jack A Kosmicki, Menachem Fromer, Mitja Kurki, Ami Levy Moonshine, Khalid Shakir, Christine Stevens, Ruth McPherson, Ryan Poplin
2016-10-05

Formation of new chromatin domains determines pathogenicity of genomic duplications.

Malte Spielmann, Ana Pombo, Katerina Kraft, Ivana Jerković, Martin Franke, Daniel M. Ibrahim, Guillaume Andrey, Francois Spitz, Ingo Kurth, Rieke Kempfer, Martin Vingron, Stefan Mundlos
2016-06-01

Chromatin Domains: The Unit of Chromosome Organization

David U Gorkin
2016-11-16

The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic Distances

Orsolya Symmons, Leslie Pan, Silvia Remeseiro, Tugce Aktas, Francois Spitz
2016-10-01

Progressive Loss of Function in a Limb Enhancer during Snake Evolution

Axel Visel, Virginie Tissières, Brandon J Mannion, Diane E. Dickel, Evgeny Z Kvon, Javier Lopez-Rios, Marco Osterwalder, Edward M. Rubin, Uira Melo, Len A. Pennacchio
2016-11-28

Enhancers and super-enhancers have an equivalent regulatory role in embryonic stem cells through regulation of single or multiple genes

Gurdeep Singh
2016-11-01

Ever-Changing Landscapes: Transcriptional Enhancers in Development and Evolution

Hannah K Long
2016-07-04

Genetic dissection of the α-globin super-enhancer in vivo

Bryony Graham, Jim R Hughes, Christina Rode, A Marieke Oudelaar, Maria C Suciu, Jelena Telenius, Tatjana Sauka-Spengler, Douglas Higgs, Len A. Pennacchio

Article - wd:Q52691807

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