Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

[1]  H. Mefford,et al.  De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. , 2017, American journal of human genetics.

[2]  E. Bourel-ponchel,et al.  Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome , 2016, Clinical genetics.

[3]  D. Geschwind,et al.  Gene hunting in autism spectrum disorder: on the path to precision medicine , 2015, The Lancet Neurology.

[4]  W. Chung,et al.  Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy , 2015, Journal of Medical Genetics.

[5]  R. Weksberg,et al.  Diagnostic yield of genetic testing in epileptic encephalopathy in childhood , 2015, Journal of the Neurological Sciences.

[6]  H. Rehm,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[7]  E. Bertini,et al.  COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency , 2015, American journal of human genetics.

[8]  Tomas W. Fitzgerald,et al.  Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.

[9]  Xuan Yuan,et al.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.

[10]  Xiang Li,et al.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions , 2014, Genetics in Medicine.

[11]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[12]  Mahshid S. Azamian,et al.  Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. , 2014, American journal of human genetics.

[13]  Diana Baralle,et al.  Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability , 2014, Journal of Medical Genetics.

[14]  Kali T. Witherspoon,et al.  Recurrent de novo mutations implicate novel genes underlying simplex autism risk , 2014, Nature Communications.

[15]  Michael R. Johnson,et al.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. , 2014, American journal of human genetics.

[16]  Siddharth Srivastava,et al.  Clinical whole exome sequencing in child neurology practice , 2014, Annals of neurology.

[17]  Leslie G Biesecker,et al.  Diagnostic clinical genome and exome sequencing. , 2014, The New England journal of medicine.

[18]  Julia Wynn,et al.  The usefulness of whole-exome sequencing in routine clinical practice , 2014, Genetics in Medicine.

[19]  Samuel F. Berkovic,et al.  The hidden genetics of epilepsy—a clinically important new paradigm , 2014, Nature Reviews Neurology.

[20]  Tina Pesaran,et al.  Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients , 2014, Genetics in Medicine.

[21]  S. Scherer,et al.  CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems , 2014, Journal of Neurodevelopmental Disorders.

[22]  Peter Donnelly,et al.  Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis , 2014, Human molecular genetics.

[23]  Markus Wolff,et al.  GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy , 2014, Annals of neurology.

[24]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[25]  D. Lev,et al.  Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome , 2013, Neurology.

[26]  Allyn McConkie-Rosell,et al.  The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders , 2013, Genetics in Medicine.

[27]  Michael R. Johnson,et al.  De novo mutations in the classic epileptic encephalopathies , 2013, Nature.

[28]  K. Veeramah,et al.  Exome sequencing reveals new causal mutations in children with epileptic encephalopathies , 2013, Epilepsia.

[29]  J. Shendure,et al.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.

[30]  D. Lowenstein,et al.  Genetics of the epilepsies: where are we and where are we going? , 2013, Current opinion in neurology.

[31]  B. V. van Bon,et al.  Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.

[32]  D. Horn,et al.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.

[33]  A. StAteMent Points to consider in the clinical application of genomic sequencing , 2012, Genetics in Medicine.

[34]  Vineet Bafna,et al.  Exome Sequencing Can Improve Diagnosis and Alter Patient Management , 2012, Science Translational Medicine.

[35]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[36]  M. Rieder,et al.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations , 2011, Nature Genetics.

[37]  J. H. Cross,et al.  Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 , 2010, Epilepsia.

[38]  Kai Ye,et al.  Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads , 2009, Bioinform..

[39]  J. Maguire,et al.  Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.

[40]  Large-scale discovery of novel genetic causes of developmental disorders , 2018 .

[41]  De novo mutations in epileptic encephalopathies , 2013 .