Genomic variations and chromosomal abnormalities

TopicLeading institutions, researchers & key papers

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.

235

Works

IDs:OpenAlex

How has Genomic variations and chromosomal abnormalities's publication output changed over time?

ScholarIQpublication output · 1999–2016

Output grew0% over the shown period — from 1 works in 1999 to 1 in 2016.

199920042007200820092010201120142016

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

S137905309. 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

S43092948. 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