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Genomic variations and chromosomal abnormalities

TopicLeading institutions, researchers & key papers

Genomic variations and chromosomal abnormalities is a topic indexed in ScholarIQ from OpenAlex.

What is known about Genomic variations and chromosomal abnormalities?

ScholarIQrecord summary

This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques.

How many works does Genomic variations and chromosomal abnormalities have?

ScholarIQindexed works

Genomic variations and chromosomal abnormalities has 235 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Genomic variations and chromosomal abnormalities?

ScholarIQopenalex

The OpenAlex for Genomic variations and chromosomal abnormalities is on the source record.

What are the most-cited papers on Genomic variations and chromosomal abnormalities?

ScholarIQmost cited works
Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera, Marc Listewnik, Patricia K. Donahoe, Ying Qi, Stephen W. Scherer, Charles Lee
Nature Genetics. 20042,923 Citations
Strong Association of De Novo Copy Number Mutations with Autism
Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese‐Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, A. Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoonha Lee, James Hicks, Sarah Spence, Annette T. Lee, Kaija Puura, Terho Lehtimäki, David H. Ledbetter, Peter K. Gregersen, Joel D. Bregman, James S. Sutcliffe, Vaidehi Jobanputra, Wendy K. Chung, Dorothy Warburton, Mary‐Claire King, David Skuse, Daniel H. Geschwind, T. Conrad Gilliam, Kenny Ye, Michael Wigler
Science. 20072,846 CitationsOPEN ACCESS
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Håkon Håkonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiao-Qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge
Nature. 20102,064 CitationsOPEN ACCESS
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F.A. Grant, Håkon Håkonarson, Maja Bućan
Genome Research. 20071,914 CitationsOPEN ACCESS
Large recurrent microdeletions associated with schizophrenia
GROUP, Hreinn Stefánsson, Dan Rujescu, Sven Cichon, Olli Pietiläinen, Andrés Ingason, Stacy Steinberg, Ragnheiður Fossdal, Engilbert Sigurðsson, Thordur Sigmundsson, Jacobine E. Buizer‐Voskamp, Thomas Folkmann Hansen, Klaus D. Jakobsen, Pierandrea Muglia, Clyde Francks, Paul M. Matthews, Arnaldur Gylfason, Bjarni V. Halldórsson, Daníel F. Guðbjartsson, Thorgeir E. Thorgeirsson, Ásgeir Sigurðsson, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Ásgeir Björnsson, Sigurborg Mattiasdottir, Thórarinn Blöndal, Magnús Haraldsson, Brynja B. Magnúsdóttir, Ina Giegling, Hans‐Jürgen Möller, Annette M. Hartmann, Kevin V. Shianna, Dongliang Ge, Anna C. Need, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lönnqvist, Jaana Suvisaari, Annamarie Tuulio-Henriksson, Tiina Paunio, Timi Toulopoulou, Elvira Bramon, Marta Di Forti, Robin Murray, Mirella Ruggeri, Evangelos Vassos, Sarah Tosato, Muriel Walshe, Tao Li, Catalina Vasilescu, Thomas W. Mühleisen, August G. Wang, Henrik Ullum, Srdjan Djurovic, Ingrid Melle, Jes Olesen, Lambertus A. Kiemeney, Barbara Franke, Chiara Sabatti, Nelson B. Freimer, Jeffrey R. Gulcher, Unnur Þorsteinsdóttir, Augustine Kong, Ole A. Andreassen, Roel A. Ophoff, Alexander Georgi, Marcella Rietschel, Thomas Werge, Hannes Pétursson, David B. Goldstein, Markus M. Nöthen, Leena Peltonen, David Collier, David St Clair, Kāri Stefánsson
Nature. 20081,778 CitationsOPEN ACCESS

Where is Genomic variations and chromosomal abnormalities research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock

How much of the research on Genomic variations and chromosomal abnormalities is open access?

ScholarIQopen access share
87%OPEN ACCESS
Gold
0%
Green
27%
Hybrid
13%
Bronze
47%
Closed
13%

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