受强制性开放获取政策约束的文章 - Karin Fuentes Fajardo了解详情
可在其他位置公开访问的文章：16 篇
Accurate whole human genome sequencing using reversible terminator chemistry
DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ...
nature 456 (7218), 53-59, 2008
强制性开放获取政策： US National Institutes of Health
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ...
Nature genetics 49 (1), 27-35, 2017
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
The national institutes of health undiagnosed diseases program: insights into rare diseases
WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ...
Genetics in Medicine 14 (1), 51-59, 2012
强制性开放获取政策： US National Institutes of Health
Accurate and comprehensive sequencing of personal genomes
SS Ajay, SCJ Parker, HO Abaan, KVF Fajardo, EH Margulies
Genome research 21 (9), 1498-1505, 2011
强制性开放获取政策： US National Institutes of Health
GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
TM Pierson, H Yuan, ED Marsh, K Fuentes‐Fajardo, DR Adams, ...
Annals of clinical and translational neurology 1 (3), 190-198, 2014
强制性开放获取政策： US National Institutes of Health
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
TM Pierson, D Adams, F Bonn, P Martinelli, PF Cherukuri, JK Teer, ...
PLoS genetics 7 (10), e1002325, 2011
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Detecting false‐positive signals in exome sequencing
KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ...
Human mutation 33 (4), 609-613, 2012
强制性开放获取政策： US National Institutes of Health
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
H Yuan, KB Hansen, J Zhang, T Mark Pierson, TC Markello, KVF Fajardo, ...
Nature communications 5 (1), 1-12, 2014
强制性开放获取政策： US National Institutes of Health
Frequency and complexity of de novo structural mutation in autism
WM Brandler, D Antaki, M Gujral, A Noor, G Rosanio, TR Chapman, ...
The American Journal of Human Genetics 98 (4), 667-679, 2016
强制性开放获取政策： US National Institutes of Health
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
DR Adams, H Yuan, T Holyoak, KH Arajs, P Hakimi, TC Markello, ...
Molecular genetics and metabolism 113 (3), 161-170, 2014
强制性开放获取政策： US National Institutes of Health
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
TM Pierson, DR Simeonov, M Sincan, DA Adams, T Markello, G Golas, ...
European journal of human genetics 20 (4), 476-479, 2012
强制性开放获取政策： US National Institutes of Health
Analysis of DNA sequence variants detected by high‐throughput sequencing
DR Adams, M Sincan, K Fuentes Fajardo, JC Mullikin, TM Pierson, C Toro, ...
Human mutation 33 (4), 599-608, 2012
强制性开放获取政策： US National Institutes of Health
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
TM Pierson, DA Adams, T Markello, G Golas, S Yang, M Sincan, ...
Neurology 79 (2), 123-126, 2012
强制性开放获取政策： US National Institutes of Health
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
TM Pierson, T Markello, J Accardi, L Wolfe, D Adams, M Sincan, ...
Neuromuscular Disorders 23 (6), 483-488, 2013
强制性开放获取政策： US National Institutes of Health
Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data
PF Cherukuri, V Maduro, KV Fuentes-Fajardo, K Lam, ...
BMC genomics 16, 1-10, 2015
强制性开放获取政策： US National Institutes of Health
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics …
CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ...
bioRxiv, 040493, 2016
强制性开放获取政策： US National Institutes of Health, US Department of Veterans Affairs, German …
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