Literature DB >> 28654998

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

Christa Lese Martin1, David H Ledbetter1.   

Abstract

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Year:  2017        PMID： 28654998      PMCID： PMC7058144          DOI： 10.1001/jama.2017.7272

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  8 in total

Review 1.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2014-09       Impact factor: 7.124

2.  Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis.

Authors:  Yannis Trakadis; Michael Shevell
Journal:  Dev Med Child Neurol       Date:  2011-08-16       Impact factor: 5.449

3.  Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Donna M McDonald-McGinn; Koen Devriendt; Maria Cristina Digilio; Paula Goldenberg; Alex Habel; Bruno Marino; Solveig Oskarsdottir; Nicole Philip; Kathleen Sullivan; Ann Swillen; Jacob Vorstman
Journal:  J Pediatr       Date:  2011-05-12       Impact factor: 4.406

Review 4.  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

5.  American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.

Authors:  Hutton M Kearney; Sarah T South; Daynna J Wolff; Allen Lamb; Ada Hamosh; Kathleen W Rao
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

6.  Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Authors:  Kristiina Tammimies; Christian R Marshall; Susan Walker; Gaganjot Kaur; Bhooma Thiruvahindrapuram; Anath C Lionel; Ryan K C Yuen; Mohammed Uddin; Wendy Roberts; Rosanna Weksberg; Marc Woodbury-Smith; Lonnie Zwaigenbaum; Evdokia Anagnostou; Zhuozhi Wang; John Wei; Jennifer L Howe; Matthew J Gazzellone; Lynette Lau; Wilson W L Sung; Kathy Whitten; Cathy Vardy; Victoria Crosbie; Brian Tsang; Lia D'Abate; Winnie W L Tong; Sandra Luscombe; Tyna Doyle; Melissa T Carter; Peter Szatmari; Susan Stuckless; Daniele Merico; Dimitri J Stavropoulos; Stephen W Scherer; Bridget A Fernandez
Journal:  JAMA       Date:  2015-09-01       Impact factor: 56.272

Review 7.  Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Authors:  Wai Lun Alan Fung; Nancy J Butcher; Gregory Costain; Danielle M Andrade; Erik Boot; Eva W C Chow; Brian Chung; Cheryl Cytrynbaum; Hanna Faghfoury; Leona Fishman; Sixto García-Miñaúr; Susan George; Anthony E Lang; Gabriela Repetto; Andrea Shugar; Candice Silversides; Ann Swillen; Therese van Amelsvoort; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

8.  Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.

Authors:  Melanie Manning; Louanne Hudgins
Journal:  Genet Med       Date:  2010-11       Impact factor: 8.822
  8 in total
  1 in total

Review 1.  Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.

Authors:  Sadegheh Haghshenas; Pratibha Bhai; Erfan Aref-Eshghi; Bekim Sadikovic
Journal:  Int J Mol Sci       Date:  2020-12-06       Impact factor: 5.923
  1 in total

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