Literature DB >> 17850622

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

F Zahir1, J M Friedman.   

Abstract

Our understanding of the causes of mental retardation is benefiting greatly from whole-genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are undetectable by conventional cytogenetic analysis. The current method of choice for performing whole-genome scans for CNVs is array genomic hybridization (AGH). Several platforms are available for AGH, each with its own strengths and limitations. This review discusses considerations that are relevant to the clinical use of whole-genome AGH platforms for the diagnosis of pathogenic CNVs in children with mental retardation. Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics.

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Year:  2007        PMID： 17850622     DOI： 10.1111/j.1399-0004.2007.00847.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  14 in total

1.  Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.

Authors:  Dean A Regier; Jan M Friedman; Carlo A Marra
Journal:  Am J Hum Genet       Date:  2010-04-15       Impact factor: 11.025

Review 2.  Exome sequencing and the genetics of intellectual disability.

Authors:  S Topper; C Ober; Soma Das
Journal:  Clin Genet       Date:  2011-06-15       Impact factor: 4.438

3.  Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Authors:  Concetta Cafiero; Giuseppe Marangi; Daniela Orteschi; Marwan Ali; Alessia Asaro; Emanuela Ponzi; Alice Moncada; Stefania Ricciardi; Marina Murdolo; Giorgia Mancano; Ilaria Contaldo; Vincenzo Leuzzi; Domenica Battaglia; Eugenio Mercuri; Anne M Slavotinek; Marcella Zollino
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

4.  Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

Authors:  Tracy Tucker; Alexandre Montpetit; David Chai; Susanna Chan; Sébastien Chénier; Bradley P Coe; Allen Delaney; Patrice Eydoux; Wan L Lam; Sylvie Langlois; Emmanuelle Lemyre; Marco Marra; Hong Qian; Guy A Rouleau; David Vincent; Jacques L Michaud; Jan M Friedman
Journal:  BMC Med Genomics       Date:  2011-03-25       Impact factor: 3.063

5.  Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Authors:  Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan P M de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2009-11-18       Impact factor: 4.246

6.  Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.

Authors:  Takeshi Mizuguchi; Ryota Hashimoto; Masanari Itokawa; Akira Sano; Osamu Shimokawa; Yukiko Yoshimura; Naoki Harada; Noriko Miyake; Akira Nishimura; Hirotomo Saitsu; Nadiya Sosonkina; Norio Niikawa; Hiroshi Kunugi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2008-08-07       Impact factor: 3.172

7.  Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Authors:  Cha Gon Lee; Sang-Jin Park; Jun-No Yun; Jung Min Ko; Hyon-Ju Kim; Shin-Young Yim; Young Bae Sohn
Journal:  Yonsei Med J       Date:  2013-11       Impact factor: 2.759

8.  High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Authors:  Laura Bernardini; Viola Alesi; Sara Loddo; Antonio Novelli; Irene Bottillo; Agatino Battaglia; Maria Cristina Digilio; Giuseppe Zampino; Adam Ertel; Paolo Fortina; Saul Surrey; Bruno Dallapiccola
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

9.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Authors:  Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy A Rouleau; Margot I Van Allen; Siu-Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Journal:  BMC Genomics       Date:  2009-11-16       Impact factor: 3.969

10.  Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.

Authors:  Zhishuo Ou; Sung-Hae L Kang; Chad A Shaw; Condie E Carmack; Lisa D White; Ankita Patel; Arthur L Beaudet; Sau Wai Cheung; A Craig Chinault
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822
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