Literature DB >> 28933790

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Sureni V Mullegama1, Steven D Klein2, Dzung C Nguyen2, Arang Kim3, Rebecca Signer3, Michelle Fox3, Naghmeh Dorrani3, Andrea Hendershot4, Rebecca Mardach5, Robert Suddath6, Katrina Dipple7, Eric Vilain2,3, Derek A Wong3, Joshua L Deignan1, Stephen D Cederbaum2,3,6, Wayne W Grody1,2,3, Julian A Martinez-Agosto2,3,6.   

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Year:  2017        PMID: 28933790     DOI: 10.1038/gim.2017.146

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  13 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.  Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.

Authors:  D M Christofolini; M V N Lipay; M A P Ramos; D Brunoni; M I Melaragno
Journal:  Genet Mol Res       Date:  2006-07-31

3.  Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic.

Authors:  Joanne F Macayran; Stephen D Cederbaum; Michelle A Fox
Journal:  Am J Med Genet A       Date:  2006-11-01       Impact factor: 2.802

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.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

6.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

7.  Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.

Authors:  G Bradley Schaefer; Nancy J Mendelsohn
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822

8.  Fragile X syndrome: diagnostic and carrier testing.

Authors:  Stephanie Sherman; Beth A Pletcher; Deborah A Driscoll
Journal:  Genet Med       Date:  2005-10       Impact factor: 8.822

9.  Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Authors:  Veronique Weinstein; Pranoot Tanpaiboon; Kimberly A Chapman; Nicholas Ah Mew; Sean Hofherr
Journal:  Genet Med       Date:  2017-05-25       Impact factor: 8.822

10.  Clinical genetic testing for patients with autism spectrum disorders.

Authors:  Yiping Shen; Kira A Dies; Ingrid A Holm; Carolyn Bridgemohan; Magdi M Sobeih; Elizabeth B Caronna; Karen J Miller; Jean A Frazier; Iris Silverstein; Jonathan Picker; Laura Weissman; Peter Raffalli; Shafali Jeste; Laurie A Demmer; Heather K Peters; Stephanie J Brewster; Sara J Kowalczyk; Beth Rosen-Sheidley; Caroline McGowan; Andrew W Duda; Sharyn A Lincoln; Kathryn R Lowe; Alison Schonwald; Michael Robbins; Fuki Hisama; Robert Wolff; Ronald Becker; Ramzi Nasir; David K Urion; Jeff M Milunsky; Leonard Rappaport; James F Gusella; Christopher A Walsh; Bai-Lin Wu; David T Miller
Journal:  Pediatrics       Date:  2010-03-15       Impact factor: 7.124

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  2 in total

1.  Response to Hartley et al. and Mullegama et al.

Authors:  Pranoot Tanpaiboon; Kimberly A Chapman
Journal:  Genet Med       Date:  2017-09-21       Impact factor: 8.822

2.  Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder.

Authors:  Areerat Hnoonual; Charunee Jankittunpaiboon; Pornprot Limprasert
Journal:  Biomed Res Int       Date:  2021-12-08       Impact factor: 3.411

  2 in total

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