Literature DB >> 27073338

Copy number variants in the population: unselected does not mean unaffected.

Heather C Mefford.   

Abstract

Year:  2016        PMID: 27073338      PMCID: PMC4822738          DOI: 10.5698/1535-7511-16.2.91

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  8 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

2.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Authors:  Sébastien Jacquemont; Bradley P Coe; Micha Hersch; Michael H Duyzend; Niklas Krumm; Sven Bergmann; Jacques S Beckmann; Jill A Rosenfeld; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2014-02-27       Impact factor: 11.025

3.  Large-scale copy number polymorphism in the human genome.

Authors:  Jonathan Sebat; B Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T Conrad Gilliam; Barbara Trask; Nick Patterson; Anders Zetterberg; Michael Wigler
Journal:  Science       Date:  2004-07-23       Impact factor: 47.728

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

Authors:  Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher A Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James F Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Journal:  N Engl J Med       Date:  2008-01-09       Impact factor: 91.245

5.  Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:  Sébastien Jacquemont; Alexandre Reymond; Flore Zufferey; Louise Harewood; Robin G Walters; Zoltán Kutalik; Danielle Martinet; Yiping Shen; Armand Valsesia; Noam D Beckmann; Gudmar Thorleifsson; Marco Belfiore; Sonia Bouquillon; Dominique Campion; Nicole de Leeuw; Bert B A de Vries; Tõnu Esko; Bridget A Fernandez; Fernando Fernández-Aranda; José Manuel Fernández-Real; Mònica Gratacòs; Audrey Guilmatre; Juliane Hoyer; Marjo-Riitta Jarvelin; R Frank Kooy; Ants Kurg; Cédric Le Caignec; Katrin Männik; Orah S Platt; Damien Sanlaville; Mieke M Van Haelst; Sergi Villatoro Gomez; Faida Walha; Bai-Lin Wu; Yongguo Yu; Azzedine Aboura; Marie-Claude Addor; Yves Alembik; Stylianos E Antonarakis; Benoît Arveiler; Magalie Barth; Nathalie Bednarek; Frédérique Béna; Sven Bergmann; Mylène Beri; Laura Bernardini; Bettina Blaumeiser; Dominique Bonneau; Armand Bottani; Odile Boute; Han G Brunner; Dorothée Cailley; Patrick Callier; Jean Chiesa; Jacqueline Chrast; Lachlan Coin; Charles Coutton; Jean-Marie Cuisset; Jean-Christophe Cuvellier; Albert David; Bénédicte de Freminville; Bruno Delobel; Marie-Ange Delrue; Bénédicte Demeer; Dominique Descamps; Gérard Didelot; Klaus Dieterich; Vittoria Disciglio; Martine Doco-Fenzy; Séverine Drunat; Bénédicte Duban-Bedu; Christèle Dubourg; Julia S El-Sayed Moustafa; Paul Elliott; Brigitte H W Faas; Laurence Faivre; Anne Faudet; Florence Fellmann; Alessandra Ferrarini; Richard Fisher; Elisabeth Flori; Lukas Forer; Dominique Gaillard; Marion Gerard; Christian Gieger; Stefania Gimelli; Giorgio Gimelli; Hans J Grabe; Agnès Guichet; Olivier Guillin; Anna-Liisa Hartikainen; Délphine Heron; Loyse Hippolyte; Muriel Holder; Georg Homuth; Bertrand Isidor; Sylvie Jaillard; Zdenek Jaros; Susana Jiménez-Murcia; Géraldine Joly Helas; Philippe Jonveaux; Satu Kaksonen; Boris Keren; Anita Kloss-Brandstätter; Nine V A M Knoers; David A Koolen; Peter M Kroisel; Florian Kronenberg; Audrey Labalme; Emilie Landais; Elisabetta Lapi; Valérie Layet; Solenn Legallic; Bruno Leheup; Barbara Leube; Suzanne Lewis; Josette Lucas; Kay D MacDermot; Pall Magnusson; Christian Marshall; Michèle Mathieu-Dramard; Mark I McCarthy; Thomas Meitinger; Maria Antonietta Mencarelli; Giuseppe Merla; Alexandre Moerman; Vincent Mooser; Fanny Morice-Picard; Mafalda Mucciolo; Matthias Nauck; Ndeye Coumba Ndiaye; Ann Nordgren; Laurent Pasquier; Florence Petit; Rolph Pfundt; Ghislaine Plessis; Evica Rajcan-Separovic; Gian Paolo Ramelli; Anita Rauch; Roberto Ravazzolo; Andre Reis; Alessandra Renieri; Cristobal Richart; Janina S Ried; Claudine Rieubland; Wendy Roberts; Katharina M Roetzer; Caroline Rooryck; Massimiliano Rossi; Evald Saemundsen; Véronique Satre; Claudia Schurmann; Engilbert Sigurdsson; Dimitri J Stavropoulos; Hreinn Stefansson; Carola Tengström; Unnur Thorsteinsdóttir; Francisco J Tinahones; Renaud Touraine; Louis Vallée; Ellen van Binsbergen; Nathalie Van der Aa; Catherine Vincent-Delorme; Sophie Visvikis-Siest; Peter Vollenweider; Henry Völzke; Anneke T Vulto-van Silfhout; Gérard Waeber; Carina Wallgren-Pettersson; Robert M Witwicki; Simon Zwolinksi; Joris Andrieux; Xavier Estivill; James F Gusella; Omar Gustafsson; Andres Metspalu; Stephen W Scherer; Kari Stefansson; Alexandra I F Blakemore; Jacques S Beckmann; Philippe Froguel
Journal:  Nature       Date:  2011-08-31       Impact factor: 49.962

6.  Copy number variations and cognitive phenotypes in unselected populations.

Authors:  Katrin Männik; Reedik Mägi; Aurélien Macé; Ben Cole; Anna L Guyatt; Hashem A Shihab; Anne M Maillard; Helene Alavere; Anneli Kolk; Anu Reigo; Evelin Mihailov; Liis Leitsalu; Anne-Maud Ferreira; Margit Nõukas; Alexander Teumer; Erika Salvi; Daniele Cusi; Matt McGue; William G Iacono; Tom R Gaunt; Jacques S Beckmann; Sébastien Jacquemont; Zoltán Kutalik; Nathan Pankratz; Nicholas Timpson; Andres Metspalu; Alexandre Reymond
Journal:  JAMA       Date:  2015-05-26       Impact factor: 56.272

7.  Genetically complex epilepsies, copy number variants and syndrome constellations.

Authors:  Heather C Mefford; John C Mulley
Journal:  Genome Med       Date:  2010-10-05       Impact factor: 11.117

8.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

  8 in total
  1 in total

Review 1.  Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

Authors:  M Janecka; J Mill; M A Basson; A Goriely; H Spiers; A Reichenberg; L Schalkwyk; C Fernandes
Journal:  Transl Psychiatry       Date:  2017-01-31       Impact factor: 6.222

  1 in total

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