Literature DB >> 24755951

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

Gregory Costain1.   

Abstract

Mesh：

Year:  2014        PMID： 24755951      PMCID： PMC4266746          DOI： 10.1038/ejhg.2014.64

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


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  14 in total

1.  Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome.

Authors:  Wai Lun Alan Fung; Rebecca McEvilly; Jessica Fong; Candice Silversides; Eva Chow; Anne Bassett
Journal:  Am J Psychiatry       Date:  2010-08       Impact factor: 18.112

2.  The causality of de novo copy number variants is overestimated.

Authors:  Joris R Vermeesch; Irina Balikova; Connie Schrander-Stumpel; Jean-Pierre Fryns; Koenraad Devriendt
Journal:  Eur J Hum Genet       Date:  2011-05-18       Impact factor: 4.246

3.  Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions.

Authors:  Gregory Costain; Eva W C Chow; Candice K Silversides; Anne S Bassett
Journal:  J Med Genet       Date:  2011-11-02       Impact factor: 6.318

Review 4.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08

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.  American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Authors:  Hutton M Kearney; Erik C Thorland; Kerry K Brown; Fabiola Quintero-Rivera; Sarah T South
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

7.  Stoppage rules and genetic studies of autism.

Authors:  M B Jones; P Szatmari
Journal:  J Autism Dev Disord       Date:  1988-03

8.  Chromosomal microarray versus karyotyping for prenatal diagnosis.

Authors:  Ronald J Wapner; Christa Lese Martin; Brynn Levy; Blake C Ballif; Christine M Eng; Julia M Zachary; Melissa Savage; Lawrence D Platt; Daniel Saltzman; William A Grobman; Susan Klugman; Thomas Scholl; Joe Leigh Simpson; Kimberly McCall; Vimla S Aggarwal; Brian Bunke; Odelia Nahum; Ankita Patel; Allen N Lamb; Elizabeth A Thom; Arthur L Beaudet; David H Ledbetter; Lisa G Shaffer; Laird Jackson
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

9.  Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

Authors:  D M McDonald-McGinn; M K Tonnesen; A Laufer-Cahana; B Finucane; D A Driscoll; B S Emanuel; E H Zackai
Journal:  Genet Med       Date:  2001 Jan-Feb       Impact factor: 8.822

10.  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
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  7 in total

1.  Reproductive genetic testing and human genetic variation in the era of genomic medicine.

Authors:  Chelsea Lowther; Gregory Costain; Anne S Bassett
Journal:  Am J Bioeth       Date:  2015       Impact factor: 11.229

2.  Adult neuropsychiatric expression and familial segregation of 2q13 duplications.

Authors:  Gregory Costain; Anath C Lionel; Fiona Fu; Dimitri J Stavropoulos; Matthew J Gazzellone; Christian R Marshall; Stephen W Scherer; Anne S Bassett
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2014-05-08       Impact factor: 3.568

Review 3.  Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Authors:  Chelsea Lowther; Gregory Costain; Danielle A Baribeau; Anne S Bassett
Journal:  Curr Psychiatry Rep       Date:  2017-09-20       Impact factor: 5.285

4.  "Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.

Authors:  Sarah A Walser; Allison Werner-Lin; Amita Russell; Ronald J Wapner; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2016-03-04       Impact factor: 2.537

5.  The importance of copy number variation in congenital heart disease.

Authors:  Gregory Costain; Candice K Silversides; Anne S Bassett
Journal:  NPJ Genom Med       Date:  2016-09-14       Impact factor: 8.617

6.  De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Authors:  Erin L Heinzen; Adam C O'Neill; Xiaolin Zhu; Andrew S Allen; Melanie Bahlo; Jamel Chelly; Ming Hui Chen; William B Dobyns; Saskia Freytag; Renzo Guerrini; Richard J Leventer; Annapurna Poduri; Stephen P Robertson; Christopher A Walsh; Mengqi Zhang
Journal:  PLoS Genet       Date:  2018-05-08       Impact factor: 5.917

7.  Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.

Authors:  Gregory Costain; Susan Walker; Bob Argiropoulos; Danielle A Baribeau; Anne S Bassett; Erik Boot; Koen Devriendt; Barbara Kellam; Christian R Marshall; Aparna Prasad; Moises A Serrano; D James Stavropoulos; Hope Twede; Joris R Vermeesch; Jacob A S Vorstman; Stephen W Scherer
Journal:  J Neurodev Disord       Date:  2019-02-07       Impact factor: 4.025
  7 in total

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