Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. - Wikidata - wikimedia - TriplyDB

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

http://www.wikidata.org/entity/Q30671413

about

Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism Novel bioinformatic developments for exome sequencing A knowledge network for a dynamic taxonomy of psychiatric disease Modified screening and ranking algorithm for copy number variation detection.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits Synaptic, transcriptional and chromatin genes disrupted in autism Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations.Cortical Structure Alterations and Social Behavior Impairment in p50-Deficient Mice Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.A de novo convergence of autism genetics and molecular neuroscience.Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families Copy number variation in Han Chinese individuals with autism spectrum disorder.The clinical significance of small copy number variants in neurodevelopmental disorders Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism An evaluation of copy number variation detection tools from whole-exome sequencing data.Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Excess of rare, inherited truncating mutations in autism.Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.The genetics of microdeletion and microduplication syndromes: an update.A New Method for Detecting Associations with Rare Copy-Number Variants.Genetics and genomics of autism spectrum disorder: embracing complexity.An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder Integrated small copy number variations and epigenome maps of disorders of sex development.Assessing the reproducibility of exome copy number variations predictions.Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain Patterns of genic intolerance of rare copy number variation in 59,898 human exomes Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.Addressing the problem of ADHD medication as neuroenhancements.Recent advances in the genetics of autism spectrum disorder.

P2860

Q22241227-6D125FD8-2313-4432-86E6-099E7B3CF4FE Q24658618-DB62891E-12ED-493E-8640-209772FD0CF3 Q27025656-C0513365-4933-4F99-8E3B-0F30B7F0E19C Q27304509-B7BB02C8-E442-4F13-9AAC-BB30EE9CEF40 Q28087577-BA724236-EC2F-477F-B6BF-E3C8119A7B0F Q28246677-0C203FCD-01AA-4F5B-A7FB-D01B1F10B3EA Q28250800-691B1454-C8A9-4F60-AA74-494A7AA8A6ED Q28383497-6EDDBFD2-B1BA-4903-8851-1368C75F80E4 Q28394415-DBB59FA0-98F4-4BC4-B2E9-9B634BEC15F1 Q28394524-F033D52F-6A7A-4457-87D2-FC3BD83248E7 Q28771493-40C5B54E-643E-42C0-8D81-0A99F29F291E Q30274944-5ECA8B8E-D725-4169-9B3D-C4490554452D Q30668595-8D0F8680-E25C-4BC0-AA03-C5D1738D3A4D Q30808425-52C8B940-842C-4CB3-8F1D-04C8F6F315ED Q30849515-B0FDC1A2-5486-476F-BDFE-E032E2328268 Q33629413-8ECB4FFC-F3E1-4168-B6C8-AE45DCE86C09 Q33830989-F6568F65-C9DC-4E15-B3F2-8AB0F93F6AB5 Q33916084-C33021A9-25DD-4D7E-AA9F-D0CCB752AB35 Q34101228-3227A81F-D259-42F4-B2A2-1EA2F16632EF Q34238113-D2EA9536-107A-40BA-A4C9-4CF3C84E2DD5 Q34257043-00017AD8-92B8-4640-A029-49758BBDE92D Q34460796-BE4DA017-C77F-4E25-A60C-2056E09CD13B Q34495864-62CECFE5-DF98-4664-9141-E53D21FC29A7 Q34682335-F6C1DF59-EEBD-4240-B4CE-E77D163DE118 Q35112178-EDE3C2DB-0D1B-470A-BB0C-01746A8B582E Q35115364-8BCDD239-298B-459B-98F6-0916937F49C9 Q35595321-38FCF325-6CCD-4D5C-9681-BA1E41C49562 Q35665894-2D063DED-2ADC-47B4-910C-003FEBDCE236 Q35763184-16C40ABC-7976-44BA-8B0F-D963E326A989 Q35765523-C5FBD5EF-CEDC-4FAF-BA34-71CC145D8A49 Q35797345-D219B201-9B24-4695-8C88-80097350D9C2 Q36363394-16FB3BB6-F7B0-4B84-B282-73532BBB50B6 Q36656889-DEA15426-4C83-4477-90A2-7F3ACD23C54D Q36985614-B6D13A91-20D6-402C-801D-58A9E75D2B99 Q37157786-3C868FE9-B3D2-453C-B4CD-D176D6A03259 Q37270312-84A80E7D-4F9E-43DC-A9B1-B2F83BCA4FC3 Q37297685-BB0E902C-8753-4FA3-9DBB-D6FAFC32F637 Q37416668-AE0E30F9-AE65-4846-BB70-CC47A7340ECD Q38205021-EE202829-3B6C-4EE9-86CB-DD554298121D Q38462559-9434FF0B-E679-4816-812A-47BCE2401AC9

P2860

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

http://www.wikidata.org/entity/Q30671413

description

2013 nî lūn-bûn

@nan

2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Identification of small exonic ...... n to autism spectrum disorder.

@ast

Identification of small exonic ...... n to autism spectrum disorder.

@en

type

label

Identification of small exonic ...... n to autism spectrum disorder.

@ast

Identification of small exonic ...... n to autism spectrum disorder.

@en

prefLabel

Identification of small exonic ...... n to autism spectrum disorder.

@ast

Identification of small exonic ...... n to autism spectrum disorder.

@en

P1433

Q30671413-B90332D9-FFB8-4FE1-BB6B-6C28F78E08C0

P1476

Q30671413-F731A611-430A-4D1D-A22D-FDAFB368B62B

P2093

Q30671413-02F90BD2-F989-49A2-B3C6-D6F13C0B8F43

Q30671413-126199D0-EAD8-43B6-B634-50AB48C07105

Q30671413-284287A7-A230-407D-9ECF-37CD6DC3DCFB

Q30671413-30037CA3-B307-4D00-A186-AA6322260729

Q30671413-8ECE2304-FFAC-4F59-80AC-C4113FE61A52

Q30671413-B5350C0D-6CA6-4227-A4F0-6FD2DE038456

Q30671413-C8F37409-E0A0-4736-B188-75BB7C417695

Q30671413-E879E84B-F2EB-4CB8-A158-5DE9AA45425B

Q30671413-FB708357-A252-474C-8B64-7E2357849789

P2860

Q30671413-094BB009-F7BC-44F8-8B1D-5A8FC83E9626

Q30671413-0E3EC595-5B19-410A-9141-2BD0F88C2E5E

Q30671413-15A737A5-34B5-486A-BE20-EC1BBFA86C1C

Q30671413-2738A275-FABB-456D-9C9E-0E1D2A0B3802

Q30671413-2ADBB080-CED6-4411-A0DF-EE4DE7491AFC

Q30671413-3240B7BB-F168-46C9-9F18-0C3B83AE3F4D

Q30671413-3491BBD7-CB61-4280-ABFE-6256DDD724C1

Q30671413-3496A2C4-1020-458A-BB4E-D1AAF9B97933

Q30671413-462958E3-8AB5-485A-80C7-8F0592E72C51

Q30671413-47B25CF7-49BD-4537-9698-E52C32D1B5F2

P304

Q30671413-D563F2FD-99B9-4F01-9320-F2274B1F8880

P31

Q30671413-8097085D-2C89-40B0-88B0-739A1C68ADA9

P356

Q30671413-40BC0806-FA4A-474C-840F-9E864E838211

P407

Q30671413-1DFE5B3F-B913-489C-8C34-E7242EEE6F67

P433

Q30671413-C3288E57-6FA2-4E1D-AD54-9F354997836F

P478

Q30671413-9DFE8260-47AE-44BB-B08B-BC27EE44D68D

P50

Q30671413-3BD383B4-5877-4A67-BD6D-ACE0B93E869F

Q30671413-50914B64-2F69-4F1B-A3B0-87B4B05B3982

Q30671413-94FAFC43-68A9-46A2-8605-642744060953

Q30671413-CAA68E40-C37D-4F19-887E-3A5237C754DA

Q30671413-DDA21F01-F4C7-46D2-A9AD-BBA7A7DBF1B9

Q30671413-E6D17BC0-DA2A-4C69-89CE-B9B0B7BECC9B

P577

Q30671413-B8C071AA-E6B2-4A9D-93F6-D5CDECDD361E

P5875

Q30671413-7D1C549F-DA60-42AD-84E4-50FF769A1D36

P698

Q30671413-0438078F-B8F9-4EB8-A361-0DDB55E8EB50

P921

Q30671413-D51ABFE5-A3AA-4FF8-A8EB-862FEF745921

P932

Q30671413-320F4B64-F1B8-4FC9-AB24-9DA2BD79C5C2

P356

J.AJHG.2013.09.001

P1433

American Journal of Human Genetics

P1476

Identification of small exonic ...... n to autism spectrum disorder.

@en

P2093

Arthur P Goldberg

http://www.w3.org/2001/XMLSchema#string

Christine Stevens

http://www.w3.org/2001/XMLSchema#string

Christopher S Poultney

http://www.w3.org/2001/XMLSchema#string

Elodie Drapeau

http://www.w3.org/2001/XMLSchema#string

Hala Harony-Nicolas

http://www.w3.org/2001/XMLSchema#string

Karola Rehnström

http://www.w3.org/2001/XMLSchema#string

Menachem Fromer

http://www.w3.org/2001/XMLSchema#string

Simon Durand

http://www.w3.org/2001/XMLSchema#string

Yan Kou

http://www.w3.org/2001/XMLSchema#string

P2860

Copy-number variations associated with neuropsychiatric conditions

Gene ontology: tool for the unification of biology

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Functional impact of global rare copy number variation in autism spectrum disorders

A map of human genome variation from population-scale sequencing

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Strong association of de novo copy number mutations with autism

Fast and accurate short read alignment with Burrows-Wheeler transform

PLINK: a tool set for whole-genome association and population-based linkage analyses

Detection of large-scale variation in the human genome

P304

607-619

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1016/J.AJHG.2013.09.001

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

93

http://www.w3.org/2001/XMLSchema#string

P50

Joseph D. Buxbaum

Silvia De Rubeis

Mark Joseph Daly

P577

2013-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

257461744

http://www.w3.org/2001/XMLSchema#string

P698

24094742

http://www.w3.org/2001/XMLSchema#string

P921

Autism spectrum

P932

3791269

http://www.w3.org/2001/XMLSchema#string