Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics-Reference-Cited by-同舟云学术

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Published:2014-12-02 Issue:1 Volume:36 Page:26-29
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Braunholz Diana¹,Obieglo Carolin¹,Parenti Ilaria¹²,Pozojevic Jelena¹,Eckhold Juliane¹,Reiz Benedikt³,Braenne Ingrid³,Wendt Kerstin S.⁴,Watrin Erwan⁵,Vodopiutz Julia⁶,Rieder Harald⁷,Gillessen-Kaesbach Gabriele⁸,Kaiser Frank J.¹

Affiliation:

1. Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck; Universität zu Lübeck; Lübeck Germany

2. Department of Health Sciences; Medical Genetics; Università degli Studi di Milano; Milan Italy

3. Institut für integrative und experimentelle Genomik; Universität zu Lübeck; Lübeck Germany

4. Department of Cell Biology; Erasmus MC; Rotterdam The Netherlands

5. Institut de Génétique et Développement de Rennes; Faculté de Médecine; Rennes France

6. Department of Pediatrics and Adolescent Medicine; Medical University of Vienna; Vienna Austria

7. Institut für Humangenetik und Anthropologie; Heinrich Heine Universität Düsseldorf; Düsseldorf Germany

8. Institut für Humangenetik Lübeck; Universität zu Lübeck; Lübeck Germany

Funder

Bundesministerium für Bildung und Forschung

Netherlands Organisation for Health Research and Development

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBLmutation identified by different next generation sequencing approaches;Baquero-Montoya;Clin Genet,2014

2. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity;Castronovo;Clin Genet,2010

3. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle;Deardorff;Nature,2012a

4. Mutations in cohesin complex members SMC3 and SMC1Acause a mild variant of Cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am J Hum Genet,2007

5. 21 mutations cause a human cohesinopathy;Deardorff;Am J Hum Genet,2012b

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