Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing-Reference-Cited by-同舟云学术

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Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

Published:2017-01-17 Issue:3 Volume:38 Page:324-331
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ardui Simon¹,Race Valerie¹,Zablotskaya Alena¹,Hestand Matthew S.¹,Van Esch Hilde¹,Devriendt Koenraad¹,Matthijs Gert¹,Vermeesch Joris R.¹

Affiliation:

1. Department of Human Genetics; KU Leuven; Leuven Belgium

Funder

European Union's Research and Innovation funding program

Horizon 2020

University of Leuven

KU Leuven

Hercules Foundation

Federaal Wetenschapsbeleid

Agentschap voor Innovatie door Wetenschap en Technologie

European Nucleotide Archive

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference50 articles.

1. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders;Biancalana;Eur J Hum Genet,2015

2. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients;Braida;Hum Mol Genet,2010

3. Multiple displacement amplification improves PGD for fragile X syndrome;Burlet;Mol Hum Reprod,2006

4. Pacific biosciences sequencing technology for genotyping and variation discovery in human data;Carneiro;BMC Genomics,2012

5. Resolving the complexity of the human genome using single-molecule sequencing;Chaisson;Nature,2015

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