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De novo rates and selection of large copy number variation

লেখক

Stephanie J. London

Isabelle Romieu

Deborah A Nickerson

1954 - 2021

Evan E. Eichler

1968 -

এতে প্রকাশিত: Genome Research

তারিখে প্রকাশিত: 2010-09-14

ভাষা: ইংরেজি ভাষা

Cites articles 60

তারিখ

শিরোনাম

লেখকগণ

2010-04-30

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

লিরয় এডওয়ার্ড হুড, Jay Shendure, Gustavo Glusman, Lynn Jorde, Chad D. Huff, Lee Rowen, David J Galas, Arian F. A. Smit, Robert Hubley
2010-02-14

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Francesca Antonacci, Jeffrey M. Kidd, Jozef Gécz, Mary-Claire King, Diane E. Dickel, Brian L Browning, Jonathan Sebat, Sharon Browning, Marco Fichera, Tom Walsh, Corrado Romano, Donna M McDonald-McGinn, Heather C. Mefford, Evan E. Eichler, Jill A Rosenfeld, Lisa G Shaffer, Darren M Farber, Santhosh Girirajan, Carl Edward Baker, Andy Itsara, Jillian R Ozmore, John B Moeschler, Yves Lacassie, Matthew A Deardorff, Eric Haan, Kathryn L Friend
2010-02-01

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Sadaf Farooqi, Marjo-Riitta Järvelin, Robin G Walters, Armand Valsesia, Mario Falchi, Fei Chen, Julia Sarah El-Sayed Moustafa, Jean-Claude Chèvre, Nouchine Hadjikhani, Nadège Calmels, Jean-Louis Mandel, Sophie Dupuis-Girod, Damien Sanlaville, Katrin Ounap, Elena G. Bochukova, Anne Philippe, Valérie Malan, Frank Kooy, Robert Caiazzo, Robert Sladek, Ants Kurg, Paul Elliott, Mark McCarthy, Lena Carlsson, Peter Jacobson, Stephen O'Rahilly, François Pattou, Lachlan Coin, Philippe Froguel, Jacques S Beckmann, জর্জ ডেভি স্মিথ
2010-02-04

Large, rare chromosomal deletions associated with severe early-onset obesity

Jill Clayton-Smith, Sadia Saeed, Elena G. Bochukova, Julian Hamilton-Shield, Stephen O'Rahilly, Matthew Hurles
2010-04-01

Origins and functional impact of copy number variation in the human genome

Chris Tyler-Smith, Tomas W Fitzgerald, Dalila Pinto, Omer Gokcumen, Kati Kristiansson, Klaudia Walter, Richard Redon, Chris Barnes, Stephen W. Scherer, Jeffrey R MacDonald, Armand Valsesia, Lars Feuk, Donald F Conrad, Matthew Hurles, Kathy Stirrups, Ifejinelo Onyiah, Nigel Carter
2009-08-28

Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children

Dana B. Hancock, Stephanie J. London, Isabelle Romieu, Saffron Willis-Owen, Esteban Burchard, Celeste Eng
2009-06-26

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

Joseph Buxbaum, Hilary Coon, James S. Sutcliffe, Thomas H Wassink, John I. Nurnberger, Nancy J Minshew, Dexter Hadley, Geraldine Dawson, Daniel Geschwind, Hakon Hakonarson, Edwin H Cook, Marcin Imielinski, Marian Sigman, Andrew Singleton, Kai Wang, Joseph Glessner, Rita M. Cantor, Struan F.A. Grant, Jonathan P Bradfield, Maja Bucan, Clara M. Lajonchere, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Ted Hutman, Thomas Owley, Vlad Kustanovich, Nicole B Gidaya, Ingrid E Lindquist
2009-03-15

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Marwan Shinawi
2009-01-22

Population analysis of large copy number variants and hotspots of human genetic disease

Devin Absher, Paul Ridker, Daniel I Chasman, Deborah A Nickerson, Heather C. Mefford, Evan E. Eichler, Carl Edward Baker
2009-03-21

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

Bart L Loeys, David J Amor
2008-09-19

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Konasale M. Prasad, Mark Joseph Daly, James F. Gusella
2008-10-16

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Xavier Estivill i Pallejà, Geert Mortier, Björn Menten, Jill Clayton-Smith, Evan E. Eichler, Koen Devriendt, Thomy de Ravel, Pasquale Striano, Mary-Claire King, Mariangela Lo Giudice, Jonathan Sebat, Marco Fichera, James S. Sutcliffe, Louise Gallagher, Tom Walsh, Diana Baralle, Corrado Romano, Stilianos Antonarakis, Michael Gill, Joris A Veltman, Frederique Sloan Bena, Serena Nik-Zainal, Lorenz Räber, Frank Speleman, Helen V. Firth, Joris R Vermeesch, C Geoffrey Woods, Heather C. Mefford, Stuart Schwartz, Ingrid Simonic, Ellen van Binsbergen, Carl Edward Baker, Andy Itsara, Zhaoshi Jiang, John A Crolla, Ernie M H F Bongers, Nicole de Leeuw, Stefania Gimelli, Santina Reitano, Iris Casuga, Adam Broomer, Ron Hochstenbach, Regina Regan, Cindy Skinner, Charles E. Schwartz
2008-09-07

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

Jeffrey M. Kidd, Deborah A Nickerson, Evan E. Eichler
2008-10

Integrated detection and population-genetic analysis of SNPs and copy number variation

Mark Joseph Daly, David Altshuler, Stacey Gabriel, Paul Elliott, Julian Maller, Andrew Kirby, Francis Collins
2008-09-11

Large recurrent microdeletions associated with schizophrenia

Leena Peltonen-Palotie, Marcella Rietschel, Sven Cichon, Dan Rujescu, Kári Stefánsson, Augustine Kong, Hreinn Stefansson, Unnur Þorsteinsdóttir, Thomas Werge, Aslaug Jonasdottir, Srdjan Djurovic, Adalbjorg Jonasdottir, Engilbert Sigurdsson, Thordur Sigmundsson, Jes Olesen, Tiina Paunio, Alexander Georgi, Anna C. Need, Thorgeir E. Thorgeirsson, Clyde Francks, Daníel F. Guðbjartsson, Muriel Walshe, Elvira Bramon, Thomas F. Hansen, Henrik Ullum, Paul M. Matthews, Barbara Franke, Ole A. Andreassen, Lambertus Kiemeney, Markus M Nöthen, রবিন মারি, Ingrid Melle, Hans-Jürgen Möller, Ina Giegling, Jouko Lönnqvist, Jaana Suvisaari, Jeffrey Gulcher, Richard Bruggeman, David St Clair, Olli P H Pietiläinen, Nelson A. Freimer, Roel Ophoff, Stacy Steinberg, Andrés Ingason, Annette M Hartmann, Brynja Magnusdottir, Ragnheidur Fossdal, Mirella Ruggeri, Sarah Tosato, Gillian M Fraser, Timi Toulopoulou, Kevin V Shianna, Pierandrea Muglia, Arnaldur Gylfason, Caroline Crombie, Jacobine E Buizer-Voskamp, Cătălina-Andreea Vasilescu, Thomas W Mühleisen, David A Collier, Marta Di Forti, Asgeir Bjornsson, Bjarni V. Halldórsson, Asgeir Sigurdsson, David B. Goldstein, Dongliang Ge
2008-09-11

Rare chromosomal deletions and duplications increase risk of schizophrenia

Célia Maria de Oliveira Barreto Coimbra Carvalho, Christopher P. Morley, Douglas M. Ruderfer, Benjamin S Pickard, Andrew McQuillin, Derek W. Morris, Stuart Macgregor, Draga Toncheva, Aiden Corvin, George Kirov, A Macedo, David Curtis, Peter Holmans, James Walters, Michael Gill, Michael C O'Donovan, Peter M. Visscher, Paul Lichtenstein
2008-05-30

Novel microdeletion syndromes detected by chromosome microarrays
2008-05-30

Strong association of de novo copy number mutations with sporadic schizophrenia

Johannes Roos, Shawn Levy, Joseph A Gogos
2008-05

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

Andrew Singleton, Luigi Ferrucci, Stefania Bandinelli, Marjo-Riitta Järvelin, Sampath Arepalli, Aimo Ruokonen, Alison J Hurst, Vijay Panicker, Kara Stevens, Sajjad Rafiq, Sonja Scholz, Hana Lango Allen, অ্যানা মারি, Colin M Dayan, David Melzer, Fulvio Lauretani, Giuseppe Paolisso, Anne B. Newman, Tim Frayling, Amanda J Bennett, Michael N Weedon, Mark McCarthy, Tamara B. Harris, Jack M Guralnik, Dena G. Hernandez, Angela F Britton, Greg J Tranah, Anna Maria Corsi, J Raphael Gibbs, Nicole Washecka
2008-05-01

Mapping and sequencing of structural variation from eight human genomes

Tina Graves, Evan E. Eichler, Francesca Antonacci, Jeffrey M. Kidd, Eric Haugen, Kevin McKernan, Can Alkan, David Altshuler, John Stamatoyannopoulos, James C Mullikin, Deborah A Nickerson, রিচার্ড কে উইলসন, E. Gustafson, Steven A McCarroll
2008-04-25

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Evan E. Eichler, Mary-Claire King, Anjene M. Addington, Alex S Nord, Jonathan Sebat, Tom Walsh, Sean Davis, Nitin Gogtay, Andrew Singleton, Robert L Findling, Judith L. Rapoport
2008-02-14

Association between microdeletion and microduplication at 16p11.2 and autism

David Altshuler, Kári Stefánsson, Hreinn Stefansson, Douglas M. Ruderfer, Mark Joseph Daly, James F. Gusella, Rudolph E. Tanzi, Christopher A. Walsh, Pamela Sklar, Manuel A Ferreira, Dan E Arking, Ragnheidur Fossdal, Evald Saemundsen, Orah S Platt, Joshua M Korn, ডেভিড টি মিলার
2007-12-28

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

James R. Lupski
2007-12-21

Recurrent 16p11.2 microdeletions in autism

William B. Dobyns, Edwin H Cook
2007-12-02

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
2007-11-21

Negative selection on BRCA1 susceptibility alleles sheds light on the population genetics of late-onset diseases and aging theory

Samuel Pavard, C Jessica E Metcalf
2007-10-01

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

Kathleen E. Sullivan
2007-10-19

Paired-end mapping reveals extensive structural variation in the human genome

Dean Palejev, Jan Korbel, Andrea Tanzer, Mark Bender Gerstein, Michael P. Snyder, Fabian Grubert, Alexander Eckehart Urban, Sherman Weissman, Matthew Hurles, Nigel Carter
2007-07-31

A unified genetic theory for sporadic and inherited autism

Michael Wigler, Daniel Geschwind, Jonathan Sebat, ক্যাথরিন লর্ড
2007-07-01

Genomic rearrangements and sporadic disease

James R. Lupski
2007-04-20

Strong association of de novo copy number mutations with autism

Michael Wigler, Daniel Geschwind, Terho Lehtimäki, Mary-Claire King, Jonathan Sebat, Tom Walsh, James S. Sutcliffe, Peter K. Gregersen, Dorothy Warburton, David H. Ledbetter
2007-02-18

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, Lars Feuk, Stephen W. Scherer, Veronica J Vieland, Margaret A. Pericak-Vance, Catalina Betancur, Thomas Bourgeron, Christopher Gillberg, Marion Leboyer, Joseph Buxbaum, Eric Hollander, James S. Sutcliffe, Jonathan L Haines, Joseph Piven, Thomas H Wassink, Val C Sheffield, Daniel Geschwind, Rita M. Cantor, John N Constantino, মার্থা হার্বার্ট, David H. Ledbetter, Rudolph E. Tanzi, Hilary Coon, Geraldine Dawson, Annette Estes, Lambertus Klei, Nancy J Minshew, Ellen M. Wijsman, Annemarie Poustka, Fritz Poustka, Sven Bölte, Claudio Toma, Chantal Kemner, Gillian Baird, Michael Rutter, জোনাথন গ্রিন, Andrew Pickles, Anthony Monaco, Kazuhiro Kobayashi, Janine A Lamb, Edwin H Cook, Bennett L Leventhal, ক্যাথরিন লর্ড, Daniel E. Weeks, Fred R. Volkmar, Éric Fombonne, William M. McMahon, John B Vincent, Jennifer Skaug, Maretha de Jonge, Stephen J Guter

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