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Elsevier电子期刊(13)

在“Elsevier电子期刊”中，命中：13条，耗时：0.0230156 秒

在所有数据库中总计命中：25条

1.Evaluating pathogenic dementia variants in posterior cortical atrophy

作者：Minerva M. Carrasquillo^a ; ¹ ; Imelda Barber^b ; ¹ ; Sarah J. Lincoln^a ; Melissa E. Murray^a ; Gamze Balci Camsari^c ; Qurat ul Ain. Khan^c ; Thuy Nguyen^a ; Li Ma^a ; Gina D. Bisceglio^a ; Julia E. Crook^d ; Steven G. Younkin^a ; Dennis W. Dickson^a ; Bradley F. Boeve^e ; Neill R. Graff-Radford^c ; Kevin Morgan^b ; Nilü ; fer Ertekin-Taner^a ; ^c ; ^{taner.nilufer@mayo.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：PCA ; Posterior Alzheimer's disease ; Dementia ; APOE ; TREM2 ; PSEN2 ; NeuroX

刊名：Neurobiology of Aging

出版年：2016

2.Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

作者：D. Vozzi^a ; ^{diego.vozzi@burlo.trieste.it" class="auth_mail} ; A. Morgan^b ; D. Vuckovic^b ; A. D'Eustacchio^a ; K. Abdulhadi^c ; E. Rubinato^a ; R. Badii^d ; P. Gasparini^a ; ^b ; G. Girotto^b

关键词：HHL ; hereditary hearing loss ; SHL ; syndromic hearing loss ; NSHL ; non-syndromic hearing loss ; ARNSHL ; autosomal recessive non-syndromic hearing loss ; ADNSHL ; autosomal dominant non-syndromic hearing loss ; HLTSP ; Hearing Loss Targeted Sequencing Panel ; CCDS ; Consensus Coding Sequence ; UTR ; untranslated region ; INDELs ; Small Insertions and Deletions ; SNVs ; Single Nucleotides Variations ; VCF ; Variant Call Format ; ESP ; NHLBI Exome Sequencing Project ; QUAL ; quality score ; OAEs ; Otoacustic Emissions ; N

刊名：Gene

出版年：1 June, 2014

3.Finding the lost treasures in exome sequencing data

作者：David C. Samuels ; Leng Han ; Jiang Li ; Sheng Quanghu ; Travis A. Clark ; Yu Shyr ; Yan Guo

关键词：mitochondria ; exome capture ; virus ; virus integration ; mtDNA copy number ; unmapped read

刊名：Trends in Genetics

出版年：2013

4.Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

作者：Elisabeth聽A. Rosenthal ; Jane Ranchalis ; David聽R. Crosslin ; Amber Burt ; John聽D. Brunzell ; Arno聽G. Motulsky ; Deborah聽A. Nickerson ; NHLBI GO Exome Sequencing Project ; Ellen聽M. Wijsman ; Gail聽P. Jarvik

刊名：The American Journal of Human Genetics

出版年：5 December, 2013

5.XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

作者：Am¨¦lie Piton ; Claire Redin ; Jean-Louis M ; el

刊名：The American Journal of Human Genetics

出版年：2013

6.Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

作者：Seunggeun Lee ; Mary J. Emond ; Michael J. Bamshad ; Kathleen C. Barnes ; Mark J. Rieder ; Deborah A. Nickerson ; NHLBI GO Exome Sequencing Project¡ªESP Lung Project Team ; David?C. Christiani ; Mark?M. Wurfel ; Xihong Lin

刊名：The American Journal of Human Genetics

出版年：2012

7.Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

作者：Elaine T. Lim¹ ; ⁴ ; ⁵ ; ⁶ ; ⁷ ; Soumya Raychaudhuri⁴ ; ⁶ ; ⁹ ; Stephan J. Sanders¹⁰ ; Christine Stevens⁴ ; Aniko Sabo¹¹ ; Daniel G. MacArthur¹ ; ⁴ ; ⁶ ; Benjamin M. Neale¹ ; ⁴ ; ⁵ ; ⁶ ; Andrew Kirby¹ ; ⁴ ; ⁶ ; Douglas M. Ruderfer¹ ; ³ ; ⁴ ; ⁵ ; ⁶ ; ⁸ ; ¹² ; ¹⁴ ; ¹⁵ ; Menachem Fromer¹ ; ³ ; ⁴ ; ⁵ ; ⁶ ; ⁸ ; ¹² ; ¹⁴ ; ¹⁵ ; Monkol Lek¹ ; ⁴ ; ⁶ ; Li Liu¹⁸ ; Jason Flannick¹ ; ² ; ⁴ ; ⁶ ; Stephan Ripke¹ ; ⁴ ; ⁵ ; Uma Nagaswamy¹¹ ; Donna Muzny¹¹ ; Jeffrey G. Reid¹¹ ; Alicia Hawes¹¹ ; Irene Newsham¹¹ ; Yuanqing Wu¹¹ ; Lora Lewis¹¹ ; Huyen Dinh¹¹ ; Shannon Gross¹¹ ; Li-San Wang¹⁹ ; Chiao-Feng Lin¹⁹ ; Otto Valladares¹⁹ ; Stacey B. Gabriel⁴ ; Mark dePristo⁴ ; David M. Altshuler¹ ; ² ; ⁴ ; ⁶ ; Shaun M. Purcell¹ ; ³ ; ⁴ ; ⁵ ; ⁶ ; ⁸ ; ¹² ; ¹⁴ ; ¹⁵ ; NHLBI Exome Sequencing Project

刊名：Neuron

出版年：2013

8.Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via Off-Target Sequence Reads

作者：Youna Hu ; Cristen Willer ; Xiaowei Zhan ; Hyun聽Min Kang ; Gon莽alo聽R. Abecasis

刊名：The American Journal of Human Genetics

出版年：7 November, 2013

9.Low frequency genetic variants in the ¦Ì-opioid receptor (OPRM1) affect risk for addiction to heroin and cocaine

作者：Toni-Kim Clarke^a ; ^{ctoni@mail.med.upenn.edu} ; ^{tonikimclarke@gmail.com} ; Richard C. Crist^a ; Kyle M. Kampman^b ; Charles A. Dackis^b ; Helen M. Pettinati^b ; Charles P. O&rsquo ; Brien^a ; ^b ; David W. Oslin^b ; ^c ; Thomas N. Ferraro^a ; Falk W. Lohoff^a ; Wade H. Berrettini^a

关键词：OPRM1 ; Addiction ; Cocaine ; Heroin ; Rare variants ; Genetics

刊名：Neuroscience Letters

出版年：2013

10.Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

刊名：The American Journal of Human Genetics

出版年：2012

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