Whole exome sequencing in family trios revealsde novomutations inPURAas a cause of severe neurodevelopmental delay and learning disability-Reference-Cited by-同舟云学术

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Whole exome sequencing in family trios revealsde novomutations inPURAas a cause of severe neurodevelopmental delay and learning disability

Published:2014-10-23 Issue:12 Volume:51 Page:806-813
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Hunt David,Leventer Richard J,Simons Cas,Taft Ryan,Swoboda Kathryn J,Gawne-Cain Mary,Magee Alex C,Turnpenny Peter D,Baralle Diana,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Genetic and epigenetic networks in intellectual disabilities;Van Bokhoven;Annu Rev Genet,2011

2. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010

3. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome;Hoischen;Nat Genet,2010

4. A de novo paradigm for mental retardation;Vissers;Nat Genet,2010

5. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease;Ku;Mol Psychiatry,2013

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1. Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder;Neurology Genetics;2024-10

2. Developmental and epileptic encephalopathies;Nature Reviews Disease Primers;2024-09-05

3. Systematic evaluation ofde novomutation calling tools using whole genome sequencing data;2024-08-30

4. Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders;Genetics in Medicine;2024-08

5. PURA and GLUT1: Sweet partners for brain health;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-08

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