Literature DB >> 23112749

Beware of Hemizygous Deletions That May Unmask Deleterious Variants.

M Poot.   

Abstract

Year:  2012        PMID： 23112749      PMCID： PMC3473347          DOI： 10.1159/000339564

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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3.  Deletions that reveal recessive genes.

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4.  Population analysis of large copy number variants and hotspots of human genetic disease.

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Review 5.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
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9.  A copy number variation morbidity map of developmental delay.

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Authors:  Cornelis A Albers; Dirk S Paul; Harald Schulze; Kathleen Freson; Jonathan C Stephens; Peter A Smethurst; Jennifer D Jolley; Ana Cvejic; Myrto Kostadima; Paul Bertone; Martijn H Breuning; Najet Debili; Panos Deloukas; Rémi Favier; Janine Fiedler; Catherine M Hobbs; Ni Huang; Matthew E Hurles; Graham Kiddle; Ingrid Krapels; Paquita Nurden; Claudia A L Ruivenkamp; Jennifer G Sambrook; Kenneth Smith; Derek L Stemple; Gabriele Strauss; Chantal Thys; Chris van Geet; Ruth Newbury-Ecob; Willem H Ouwehand; Cedric Ghevaert
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330
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