Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 The causality of de novo copy number variants is overestimated.

Literature DB >> 21587321

The causality of de novo copy number variants is overestimated.

Joris R Vermeesch, Irina Balikova, Connie Schrander-Stumpel, Jean-Pierre Fryns, Koenraad Devriendt.

Abstract

Mesh：

Year: 2011 PMID： 21587321 PMCID： PMC3198146 DOI： 10.1038/ejhg.2011.83

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

× No keyword cloud information.

31 in total

Review 1. Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Authors: Joris Robert Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny Van Ravenswaaij; Damien Sanlaville; Philippos C Patsalis; Helen Firth; Koen Devriendt; Orsetta Zuffardi
Journal: Eur J Hum Genet Date: 2007-07-18 Impact factor: 4.246

2. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

Authors: M Tyreman; K M Abbott; L R Willatt; R Nash; C Lees; J Whittaker; I Simonic
Journal: J Med Genet Date: 2009-05-17 Impact factor: 6.318

3. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Authors: Karen Buysse; Barbara Delle Chiaie; Rudy Van Coster; Bart Loeys; Anne De Paepe; Geert Mortier; Frank Speleman; Björn Menten
Journal: Eur J Med Genet Date: 2009-09-16 Impact factor: 2.708

4. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Authors: I Feenstra; J Fang; D A Koolen; A Siezen; C Evans; R M Winter; M M Lees; M Riegel; B B A de Vries; C M A Van Ravenswaaij; A Schinzel
Journal: Eur J Med Genet Date: 2005-11-07 Impact factor: 2.708

Review 5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors: David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal: Am J Hum Genet Date: 2010-05-14 Impact factor: 11.025

6. De novo rates and selection of large copy number variation.

Authors: Andy Itsara; Hao Wu; Joshua D Smith; Deborah A Nickerson; Isabelle Romieu; Stephanie J London; Evan E Eichler
Journal: Genome Res Date: 2010-09-14 Impact factor: 9.043

Review 7. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Authors: David A Koolen; Rolph Pfundt; Nicole de Leeuw; Jayne Y Hehir-Kwa; Willy M Nillesen; Ineke Neefs; Ine Scheltinga; Erik Sistermans; Dominique Smeets; Han G Brunner; Ad Geurts van Kessel; Joris A Veltman; Bert B A de Vries
Journal: Hum Mutat Date: 2009-03 Impact factor: 4.878

8. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors: Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal: Am J Hum Genet Date: 2009-04-02 Impact factor: 11.025

9. Strong association of de novo copy number mutations with autism.

Authors: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal: Science Date: 2007-03-15 Impact factor: 47.728

10. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

Authors: F Erdogan; L A Larsen; L Zhang; Z Tümer; N Tommerup; W Chen; J R Jacobsen; M Schubert; J Jurkatis; A Tzschach; H-H Ropers; R Ullmann
Journal: J Med Genet Date: 2008-08-19 Impact factor: 6.318

18 in total

1. Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

Authors: Nicolien M Hanemaaijer; Birgit Sikkema-Raddatz; Gerben van der Vries; Trijnie Dijkhuizen; Roel Hordijk; Anthonie J van Essen; Hermine E Veenstra-Knol; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Erica H Gerkes; Lamberta K Leegte; Klaas Kok; Richard J Sinke; Conny M A van Ravenswaaij-Arts
Journal: Eur J Hum Genet Date: 2011-09-21 Impact factor: 4.246

Review 2. Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.

Authors: Krzysztof Szczałuba; Urszula Demkow
Journal: J Appl Genet Date: 2016-11-18 Impact factor: 3.240

3. Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.

Authors: Jacob Gratten; Peter M Visscher; Bryan J Mowry; Naomi R Wray
Journal: Nat Genet Date: 2013-03 Impact factor: 38.330

Review 4. De novo mutations in human genetic disease.

Authors: Joris A Veltman; Han G Brunner
Journal: Nat Rev Genet Date: 2012-07-18 Impact factor: 53.242

5. Parental expression is overvalued in the interpretation of rare inherited variants.

Authors: Gregory Costain
Journal: Eur J Hum Genet Date: 2014-04-23 Impact factor: 4.246

6. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome.

Authors: Ashleigh R Payne; Sheng-Wei Chang; Sara N Koenig; Andrew R Zinn; Vidu Garg
Journal: Pediatr Cardiol Date: 2012-02-21 Impact factor: 1.655

7. 5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.

Authors: W Kleffmann; A M Zink; J A Lee; J Senderek; E Mangold; U Moog; G A Rappold; E Wohlleber; H Engels
Journal: Mol Syndromol Date: 2012-07-25

8. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Authors: Cynthia J Curry; Jill A Rosenfeld; Erica Grant; Karen W Gripp; Carol Anderson; Arthur S Aylsworth; Taha Ben Saad; Victor V Chizhikov; Giedre Dybose; Christina Fagerberg; Michelle Falco; Christina Fels; Marco Fichera; Jesper Graakjaer; Donatella Greco; Jennifer Hair; Elizabeth Hopkins; Marlene Huggins; Roger Ladda; Chumei Li; John Moeschler; Malgorzata J M Nowaczyk; Jillian R Ozmore; Santina Reitano; Corrado Romano; Laura Roos; Rhonda E Schnur; Susan Sell; Pim Suwannarat; Dea Svaneby; Marta Szybowska; Mark Tarnopolsky; Raymond Tervo; Anne Chun-Hui Tsai; Megan Tucker; Stephanie Vallee; Ferrin C Wheeler; Dina J Zand; A James Barkovich; Swaroop Aradhya; Lisa G Shaffer; William B Dobyns
Journal: Am J Med Genet A Date: 2013-06-27 Impact factor: 2.802

9. Atypical face shape and genomic structural variants in epilepsy.

Authors: Krishna Chinthapalli; Emanuele Bartolini; Jan Novy; Michael Suttie; Carla Marini; Melania Falchi; Zoe Fox; Lisa M S Clayton; Josemir W Sander; Renzo Guerrini; Chantal Depondt; Raoul Hennekam; Peter Hammond; Sanjay M Sisodiya
Journal: Brain Date: 2012-09-13 Impact factor: 13.501

10. Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.

Authors: Joo Wook Ahn; Susan Bint; Anne Bergbaum; Kathy Mann; Richard P Hall; Caroline Mackie Ogilvie
Journal: Mol Cytogenet Date: 2013-04-05 Impact factor: 2.009