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NPJ genomic medicine.

中文名称：NPJ基因组医学。

ISSN：2056-7944
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发文量：175

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1.Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

机译：扩展具有de novo KMT2A变异个体的神经发育表型
- 作者：Ada J. S. Chan;Cheryl Cytrynbaum;Ny Hoang;Patricia M. Ambrozewicz;Rosanna Weksberg;Irene Drmic;Anne Ritzema;Russell Schachar;Susan Walker;Mohammed Uddin;Mehdi Zarrei;Ryan K. C. Yuen;Stephen W. Scherer
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
2.A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

机译：一项全基因组关联研究，以发现PCSK9，APOB和LDLR的多效性
- 作者：Maya S. Safarova;Benjamin A. Satterfield;Xiao Fan;Erin E. Austin;Zhan Ye;Lisa Bastarache;Neil Zheng;Marylyn D. Ritchie;Kenneth M. Borthwick;Marc S. Williams;Eric B. Larson;Aaron Scrol;Gail P. Jarvik;David R. Crosslin;Kathleen Leppig;Laura J. Rasmussen-Torvik;Sarah A. Pendergrass;Amy C. Sturm;Bahram Namjou;Amy Sanghavi Shah;Robert J. Carroll;Wendy K. Chung;Wei-Qi Wei;QiPing Feng;C. Michael Stein;Dan M. Roden;Teri A. Manolio;Daniel J. Schaid;Joshua C. Denny;Scott J. Hebbring;Mariza de Andrade;Iftikhar J. Kullo
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
3.Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers

机译：结合扩展的DNA甲基化数据进行的综合分析揭示了癌症中常见的关键调节剂和途径
- 作者：Shicai Fan;Jianxiong Tang;Nan Li;Ying Zhao;Rizi Ai;Kai Zhang;Mengchi Wang;Wei Du;Wei Wang
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
4.Both rare and common genetic variants contribute to autism in the Faroe Islands

机译：法罗群岛的罕见遗传病和常见遗传病均导致自闭症
- 作者：Claire S Leblond;Freddy Cliquet;Coralie Carton;Guillaume Huguet;Alexandre Mathieu;Thomas Kergrohen;Julien Buratti;Nathalie Lemière;Laurence Cuisset;Thierry Bienvenu;Anne Boland;Jean-Fran?ois Deleuze;Tormodur Stora;Rannva Biskupstoe;Jónrit Halling;Guerie Andorsdóttir;Eva Billstedt;Christopher Gillberg;Thomas Bourgeron
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
5.Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

机译：作者纠正：鉴定患有嗜碱性麦克风综合征患者的促进基因的框架
- 作者：Anne-Claude Tabet;Thomas Rolland;Marie Ducloy;Jonathan Lévy;Julien Buratti;Alexandre Mathieu;Damien Haye;Laurence Perrin;Céline Dupont;Sandrine Passemard;Yline Capri;Alain Verloes;Séverine Drunat;Boris Keren;Cyril Mignot;Isabelle Marey;Aurélia Jacquette;Sandra Whalen;Eva Pipiras;Brigitte Benzacken;Sandra Chantot-Bastaraud;Alexandra Afenjar;Delphine Héron;Cédric Le Caignec;Claire Beneteau;Olivier Pichon;Bertrand Isidor;Albert David;Laila El Khattabi;Stephan Kemeny;Laetitia Gouas;Philippe Vago;Anne-Laure Mosca-Boidron;Laurence Faivre;Chantal Missirian;Nicole Philip;Damien Sanlaville;Patrick Edery;Véronique Satre;Charles Coutton;Fran?oise Devillard;Klaus Dieterich;Marie-Laure Vuillaume;Caroline Rooryck;Didier Lacombe;Lucile Pinson;Vincent Gatinois;Jacques Puechberty;Jean Chiesa;James Lespinasse;Christèle Dubourg;Chloé Quelin;Mélanie Fradin;Hubert Journel;Annick Toutain;Dominique Martin;Abdelamdjid Benmansour;Claire S. Leblond;Roberto Toro;Frédérique Amsellem;Richard Delorme;Thomas Bourgeron
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
6.Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

机译：与组合免疫缺陷和自身免疫疾病相关的显性染色突变
- 作者：Salla Keskitalo;Emma M. Haapaniemi;Virpi Glumoff;Xiaonan Liu;Ville Lehtinen;Christopher Fogarty;Hanna Rajala;Samuel C. Chiang;Satu Mustjoki;Panu Kovanen;Jouko Lohi;Yenan T. Bryceson;Mikko Sepp?nen;Juha Kere;Kaarina Heiskanen;Markku Varjosalo
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
7.Fetal sex determination in twin pregnancies using non-invasive prenatal testing

机译：非侵入性产前检测胎儿治疗胎儿性别测定
- 作者：Darine Villela;Huiwen Che;Marijke Van Ghelue;Luc Dehaspe;Nathalie Brison;Kris Van Den Bogaert;Koen Devriendt;Liesbeth Lewi;Baran Bayindir;Joris Robert Vermeesch
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
8.Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

机译：初级辅酶Q10缺乏-7：南方南方的膨胀表型谱和创始人突变
- 作者：Mullin Ho-Chung Yu;Mandy Ho-Yin Tsang;Sophie Lai;Matthew Sai-Pong Ho;Donald M. L. Tse;Brooke Willis;Anna Ka-Yee Kwong;Yen-Yin Chou;Shuan-Pei Lin;Catarina M Quinzii;Wuh-Liang Hwu;Yin-Hsiu Chien;Pao-Lin Kuo;Victor Chi-Man Chan;Cheung Tsoi;Shuk-Ching Chong;Richard J. T. Rodenburg;Jan Smeitink;Christopher Chun-Yu Mak;Kit-San Yeung;Jasmine Lee-Fong Fung;Wendy Lam;Joannie Hui;Ni-Chung Lee;Cheuk‐Wing Fung;Brian Hon-Yin Chung
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
9.Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

机译：Aldh1L2中的有害突变表明了神经调查症综合征的新颖原因
- 作者：Catherine Sarret;Zahra Ashkavand;Evan Paules;Imen Dorboz;Peter Pediaditakis;Susan Sumner;Eléonore Eymard-Pierre;Christine Francannet;Natalia I. Krupenko;Odile Boespflug-Tanguy;Sergey A. Krupenko
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
10.Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

机译：457个招聘在线的自闭症家庭的Exome测序为自闭症风险基因提供了证据
- 作者：Pamela Feliciano;The SPARK Consortium;Xueya Zhou;Irina Astrovskaya;Tychele N. Turner;Tianyun Wang;Leo Brueggeman;Rebecca Barnard;Alexander Hsieh;LeeAnne Green Snyder;Donna M. Muzny;Aniko Sabo;Richard A. Gibbs;Evan E. Eichler;Brian J. O’Roak;Jacob J. Michaelson;Natalia Volfovsky;Yufeng Shen;Wendy K. Chung
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
11.Genome-wide association study for proliferative diabetic retinopathy in Africans

机译：基因组 - 非洲增殖性糖尿病视网膜病变研究
- 作者：Chang Liu;Guanjie Chen;Amy R. Bentley;Ayo Doumatey;Jie Zhou;Adebowale Adeyemo;Jinkui Yang;Charles Rotimi
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
12.Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records

机译：基因组筛选的预测值：50,788电子健康记录中囊性纤维化的横截面研究
- 作者：J. P. Sugunaraj;H. M. Brosius;M. F. Murray;K. Manickam;J. A. Stamm;D. J. Carey;U. L. Mirshahi
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
13.Impact of free cancer predisposition cascade genetic testing on uptake in Singapore

机译：自由癌症易感性级联遗传试验对新加坡摄取的影响
- 作者：Eliza Courtney;Amanda Kay-Lyn Chok;Zoe Li Ting Ang;Tarryn Shaw;Shao-Tzu Li;Jeanette Yuen;Joanne Ngeow
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
14.A large data resource of genomic copy number variation across neurodevelopmental disorders

机译：神经发育障碍障碍基因组拷贝数变异的大数据资源
- 作者：Mehdi Zarrei;Christie L. Burton;Worrawat Engchuan;Edwin J. Young;Edward J. Higginbotham;Jeffrey R. MacDonald;Brett Trost;Ada J. S. Chan;Susan Walker;Sylvia Lamoureux;Tracy Heung;Bahareh A. Mojarad;Barbara Kellam;Tara Paton;Muhammad Faheem;Karin Miron;Chao Lu;Ting Wang;Kozue Samler;Xiaolin Wang;Gregory Costain;Ny Hoang;Giovanna Pellecchia;John Wei;Rohan V. Patel;Bhooma Thiruvahindrapuram;Maian Roifman;Daniele Merico;Tara Goodale;Irene Drmic;Marsha Speevak;Jennifer L. Howe;Ryan K. C. Yuen;Janet A. Buchanan;Jacob A. S. Vorstman;Christian R. Marshall;Richard F. Wintle;David R. Rosenberg;Gregory L. Hanna;Marc Woodbury-Smith;Cheryl Cytrynbaum;Lonnie Zwaigenbaum;Mayada Elsabbagh;Janine Flanagan;Bridget A. Fernandez;Melissa T. Carter;Peter Szatmari;Wendy Roberts;Jason Lerch;Xudong Liu;Rob Nicolson;Stelios Georgiades;Rosanna Weksberg;Paul D. Arnold;Anne S. Bassett;Jennifer Crosbie;Russell Schachar;Dimitri J. Stavropoulos;Evdokia Anagnostou;Stephen W. Scherer
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
15.A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity

机译：心血管疾病，免疫相关疾病和长寿IL6信号传导的孟德尔随机性研究
- 作者：Mickael Rosa;Arnaud Chignon;Zhonglin Li;Marie-Chloé Boulanger;Benoit J. Arsenault;Yohan Bossé;Sébastien Thériault;Patrick Mathieu
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
16.Tracking human genes along the translational continuum

机译：跟踪翻译连续体的人类基因
- 作者：Kyubum Lee;Mindy Clyne;Wei Yu;Zhiyong Lu;Muin J. Khoury
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
17.Can one overcome “unhealthy genes”?

机译：一个人可以克服“不健康的基因”？
- 作者：Julieta Lazarte;Robert A. Hegele
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
18.Targeted resequencing identifies genes with recurrent variation in cerebral palsy

机译：有针对性的Resequecing鉴定了脑瘫复发变异的基因
- 作者：C. L. van Eyk;M. A. Corbett;M. S. B. Frank;D. L. Webber;M. Newman;J. G. Berry;K. Harper;B. P. Haines;G. McMichael;J. A. Woenig;A. H. MacLennan;J. Gecz
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
19.Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

机译：SLC5A6中双胞胎突变引起的神经变性障碍鉴定和靶向管理
- 作者：Alicia B. Byrne;Peer Arts;Steven W. Polyak;Jinghua Feng;Andreas W. Schreiber;Karin S. Kassahn;Christopher N. Hahn;Dylan A. Mordaunt;Janice M. Fletcher;Jillian Lipsett;Drago Bratkovic;Grant W. Booker;Nicholas J. Smith;Hamish S. Scott
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
20.Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans

机译：肝细胞基因表达和DNA甲基化作为非洲裔美国人的血统依赖机制
- 作者：C. S. Park;T. De;Y. Xu;Y. Zhong;E. Smithberger;C. Alarcon;E. R. Gamazon;M. A. Perera
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
21.Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

机译：重新注释191种发育和癫痫脑病相关基因Unmasks de Novo变种在SCN1A中
- 作者：Charles A. Steward;Jolien Roovers;Marie-Marthe Suner;Jose M. Gonzalez;Barbara Uszczynska-Ratajczak;Dmitri Pervouchine;Stephen Fitzgerald;Margarida Viola;Hannah Stamberger;Fadi F. Hamdan;Berten Ceulemans;Patricia Leroy;Caroline Nava;Anne Lepine;Electra Tapanari;Don Keiller;Stephen Abbs;Alba Sanchis-Juan;Detelina Grozeva;Anthony S. Rogers;Mark Diekhans;Roderic Guigó;Robert Petryszak;Berge A. Minassian;Gianpiero Cavalleri;Dimitrios Vitsios;Slavé Petrovski;Jennifer Harrow;Paul Flicek;F. Lucy Raymond;Nicholas J. Lench;Peter De Jonghe;Jonathan M. Mudge;Sarah Weckhuysen;Sanjay M. Sisodiya;Adam Frankish
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
22.Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

机译：通过归一化覆盖值的Reanalysing基因组数据在骨髓衰竭基因面板中发现CNVS
- 作者：Supanun Lauhasurayotin;Geoff D. Cuvelier;Robert J. Klaassen;Conrad V. Fernandez;Yves D. Pastore;Sharon Abish;Meera Rayar;MacGregor Steele;Lawrence Jardine;Vicky R. Breakey;Josee Brossard;Roona Sinha;Mariana Silva;Lisa Goodyear;Jeffrey H. Lipton;Bruno Michon;Catherine Corriveau-Bourque;Lillian Sung;Iren Shabanova;Hongbing Li;Bozana Zlateska;Santhosh Dhanraj;Michaela Cada;Stephen W. Scherer;Yigal Dror
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
23.FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

机译：FDA对NSIGHT Genomic研究的监督：需要一个综合系统的监管方法
- 作者：Laura V. Milko;Flavia Chen;Kee Chan;Amy M. Brower;Pankaj B. Agrawal;Alan H. Beggs;Jonathan S. Berg;Steven E. Brenner;Ingrid A. Holm;Barbara A. Koenig;Richard B. Parad;Cynthia M. Powell;Stephen F. Kingsmore
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
24.Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation

机译：糖皮质激素抗性B细胞急性淋巴细胞白血病显示受体酪氨酸激酶活化
- 作者：Rohit A. Chougule;Kinjal Shah;Sausan A. Moharram;Johan Vallon-Christersson;Julhash U. Kazi
- 期刊名称：《NPJ genomic medicine.》 | 2019年第1期
25.Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

机译：家族/遗传性癌症综合征：专注于高度敏感的阿拉伯人口
- 作者：Fawz S. AlHarthi;Alya Qari;Alaa Edress;Malak Abedalthagafi
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
26.Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal

机译：塞内加尔遗传乳腺癌患者古代BRCA1致病变异的证据
- 作者：Rokhaya Ndiaye;Jean Pascal Demba Diop;Violaine Bourdon-Huguenin;Ahmadou Dem;Doudou Diouf;Mamadou Moustapha Dieng;Pape Saloum Diop;Serigne Modou Kane Gueye;Seydi Abdoul Ba;Yacouba Dia;Sidy Ka;Babacar Mbengue;Alassane Thiam;Maguette Sylla Niang;Papa Madieye Gueye;Oumar Faye;Philomene Lopez Sall;Aynina Cisse;Papa Amadou Diop;Hagay Sobol;Alioune Dieye
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
27.Brain microRNAs associated with late-life depressive symptoms are also associated with cognitive trajectory and dementia

机译：与晚生抑郁症状相关的脑微大血管也与认知轨迹和痴呆有关
- 作者：Thomas S. Wingo;Jingjing Yang;Wen Fan;Se Min Canon;Ekaterina Sergeevna Gerasimov;Adriana Lori;Benjamin Logsdon;Bing Yao;Nicholas T. Seyfried;James J. Lah;Allan I. Levey;Patricia A. Boyle;Julia A. Schneider;Philip L. De Jager;David A. Bennett;Aliza P. Wingo
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
28.Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk

机译：等位基因特异性miRNA结合分析鉴定了乳腺癌风险的候选靶基因
- 作者：Ana Jacinta-Fernandes;Joana M. Xavier;Ramiro Magno;Joel G. Lage;Ana-Teresa Maia
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
29.Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation

机译：患者在患有吉尔特曼综合征的患者中的多个肿瘤患者患有种系单行静脉突变
- 作者：Jason Yongsheng Chan;Ming Ren Toh;Siao Ting Chong;Nur Diana Binte Ishak;Arun Mouli Kolinjivadi;Sock Hoai Chan;Elizabeth Lee;Arnoud Boot;Li Shao-Tzu;Min-Hoe Chew;Joanne Ngeow
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
30.A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

机译：一种为期三年的后续研究，评估Exome测序和再分析诊断潜力的临床效用
- 作者：Jasmine L. F. Fung;Mullin H. C. Yu;Shushu Huang;Claudia C. Y. Chung;Marcus C. Y. Chan;Sander Pajusalu;Christopher C. Y. Mak;Vivian C. C. Hui;Mandy H. Y. Tsang;Kit San Yeung;Monkol Lek;Brian H. Y. Chung
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
31.Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping

机译：新生儿筛查基因的下一代测序：短读映射的准确性
- 作者：C. Trier;G. Fournous;J. M. Strand;A. Stray-Pedersen;R. D. Pettersen;A. D. Rowe
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
32.Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration

机译：肠道微生物组在新生血管年龄相关性黄斑变性中与补体系统的关联
- 作者：Denise C. Zysset-Burri;Irene Keller;Lieselotte E. Berger;Carlo R. Largiadèr;Matthias Wittwer;Sebastian Wolf;Martin S. Zinkernagel
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
33.Pharmacogenomics of COVID-19 therapies

机译：Covid-19疗法的药替昔炎
- 作者：Takuto Takahashi;Jasmine A. Luzum;Melanie R. Nicol;Pamala A. Jacobson
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
34.Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

机译：鉴定北洲光学映射达玛累1基因的可能致病结构变化
- 作者：Min Chen;Min Zhang;Yeqing Qian;Yanmei Yang;Yixi Sun;Bei Liu;Liya Wang;Minyue Dong
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
35.Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

机译：以前未确诊的儿科患者的部分自动化全基因组测序再分析可以有效地产生新的诊断
- 作者：Kiely N. James;Michelle M. Clark;Brandon Camp;Cyrielle Kint;Peter Schols;Sergey Batalov;Benjamin Briggs;Narayanan Veeraraghavan;Shimul Chowdhury;Stephen F. Kingsmore
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
36.Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

机译：血统分析的身份识别创始人事件和链接SOD1家族和零星ALS病例
- 作者：Lyndal Henden;Natalie A. Twine;Piotr Szul;Emily P. McCann;Garth A. Nicholson;Dominic B. Rowe;Matthew C. Kiernan;Denis C. Bauer;Ian P. Blair;Kelly L. Williams
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
37.A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

机译：药用动物星等位基因呼叫生物信息学算法的系统性比较：专注于CYP2D6基因分型
- 作者：David Twesigomwe;Galen E. B. Wright;Britt I. Dr?gem?ller;Jorge da Rocha;Zané Lombard;Scott Hazelhurst
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
38.Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres

机译：外显子靶向寡核苷酸微阵列设计增加了跨多个NHS基因组中心的临床相关变体的检测
- 作者：Jana Jezkova;Jade Heath;Angharad Williams;Deborah Barrell;Jessica Norton;Morag N. Collinson;Sarah J. Beal;Sian Corrin;Sian Morgan
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
39.Children’s rare disease cohorts: an integrative research and clinical genomics initiative

机译：儿童罕见的疾病队列：一项综合研究和临床基因组学倡议
- 作者：Shira Rockowitz;Nicholas LeCompte;Mary Carmack;Andrew Quitadamo;Lily Wang;Meredith Park;Devon Knight;Emma Sexton;Lacey Smith;Beth Sheidley;Michael Field;Ingrid A. Holm;Catherine A. Brownstein;Pankaj B. Agrawal;Susan Kornetsky;Annapurna Poduri;Scott B. Snapper;Alan H. Beggs;Timothy W. Yu;David A. Williams;Piotr Sliz
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
40.Personalised mapping of tumour development in synchronous colorectal cancer patients

机译：同步结直肠癌患者肿瘤发育的个性化映射
- 作者：Valentina Thomas;Maura B. Cotter;Miriam Tosetto;Yi Ling Khaw;Robert Geraghty;Desmond C. Winter;Elizabeth J. Ryan;Kieran Sheahan;Simon J. Furney
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
41.metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

机译：MetPropagate：网络引导的代谢组信息用于代谢疾病基因的优先次序
- 作者：Emma J. Graham Linck;Phillip A. Richmond;Maja Tarailo-Graovac;Udo Engelke;Leo A. J. Kluijtmans;Karlien L. M. Coene;Ron A. Wevers;Wyeth Wasserman;Clara D. M. van Karnebeek;Sara Mostafavi
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
42.MutSpot: detection of non-coding mutation hotspots in cancer genomes

机译：mutspot：癌症基因组中的非编码突变热点检测
- 作者：Yu Amanda Guo;Mei Mei Chang;Anders Jacobsen Skanderup
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
43.A glioneuronal tumor with CLIP2-MET fusion

机译：夹子2-Met Fusion的阴介质尿肿瘤
- 作者：Tamrin Chowdhury;Yeajina Lee;Sojin Kim;Hyeon Jong Yu;So Young Ji;Jeong Mo Bae;Jae Kyung Won;Joo Heon Shin;Daniel R. Weinberger;Seung Hong Choi;Chul-Kee Park;Jong-Il Kim;Sung-Hye Park
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
44.Sequencing technology status of BRCA1/ 2 testing in Latin American Countries

机译：拉丁美洲国家BRCA1 / 2测试的测序技术现状
- 作者：Angela R. Solano;Edenir I. Palmero;Lucía Delgado;Dirce M. Carraro;Rocío Ortíz-López;Claudia L. Carranza;Carlos Santamaria;Laura Cifuentes;Lilian E. Jara Sosa;Amanda E. Toland
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
45.Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma

机译：尽管复发性儿科胶质母细胞瘤中的多式联阶治疗持续存在持久性静脉突变
- 作者：Christopher S. Hong;Juan C. Vasquez;Adam J. Kundishora;Aladine A. Elsamadicy;Jason M. Beckta;Amrita Sule;Asher M. Marks;Nalin Leelatian;Anita Huttner;Ranjit S. Bindra;Michael L. DiLuna;Kristopher T. Kahle;E. Zeynep Erson-Omay
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
46.Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

机译：24-h快速三重肢测序的临床效用
- 作者：Huijun Wang;Yanyan Qian;Yulan Lu;Qian Qin;Guoping Lu;Guoqiang Cheng;Ping Zhang;Lin Yang;Bingbing Wu;Wenhao Zhou
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
47.Genes and genomes and unnecessary complexity in precision medicine

机译：精密药物的基因和基因组和不必要的复杂性
- 作者：Rama S. Singh;Bhagwati P. Gupta
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
48.Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study

机译：返回结果在基因组实践研究中的挑战：可行变体的返回经验（Rave）研究
- 作者：David C. Kochan;Erin Winkler;Noralane Lindor;Gabriel Q. Shaibi;Janet Olson;Pedro J. Caraballo;Robert Freimuth;Joel E. Pacyna;Carmen Radecki Breitkopf;Richard R. Sharp;Iftikhar J. Kullo
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
49.Erlotinib sensitivity of MAPK1 p.D321N mutation in head and neck squamous cell carcinoma

机译：头部和颈部鳞状细胞癌MAPK1 P.D321N突变的欧隆胆管敏感性
- 作者：Hoi-Lam Ngan;Peony Hiu Yan Poon;Yu-Xiong Su;Jason Ying Kuen Chan;Kwok-Wai Lo;Chun Kit Yeung;Yuchen Liu;Eileen Wong;Hui Li;Chin Wang Lau;Wenying Piao;Vivian Wai Yan Lui
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
50.19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis

机译：年龄较大的神经母细胞瘤患者有显着富集19P丧失，并与预后差相关
- 作者：Vito Alessandro Lasorsa;Flora Cimmino;Marzia Ognibene;Katia Mazzocco;Giovanni Erminio;Martina Morini;Massimo Conte;Achille Iolascon;Annalisa Pezzolo;Mario Capasso
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
51.ATP7B variant c.1934T??G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

机译：ATP7B Variant C.1934T？>？G P.Met645arg通过促进外来6跳跃导致威尔逊病
- 作者：Daniele Merico;Carl Spickett;Matthew O’Hara;Boyko Kakaradov;Amit G. Deshwar;Phil Fradkin;Shreshth Gandhi;Jiexin Gao;Solomon Grant;Ken Kron;Frank W. Schmitges;Zvi Shalev;Mark Sun;Marta Verby;Matthew Cahill;James J. Dowling;Johan Fransson;Erno Wienholds;Brendan J. Frey
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
52.MACROD2 deficiency promotes hepatocellular carcinoma growth and metastasis by activating GSK-3β/β-catenin signaling

机译：宏观2缺乏通过激活GSK-3β/β-Catenin信号传导来促进肝细胞癌生长和转移
- 作者：Zheng-Jun Zhou;Chu-Bin Luo;Hao-Yang Xin;Zhi-Qiang Hu;Gui-Qi Zhu;Jia Li;Shao-Lai Zhou
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
53.Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

机译：患有转移性膀胱癌的患者中的同时种系和体细胞病原BAP1变体
- 作者：Megan E. Tesch;Justin A. Pater;Gillian Vandekerkhove;Gang Wang;Kristin Binnington;Alan I. So;Alexander W. Wyatt;Bernhard J. Eigl
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
54.FHIR Genomics: enabling standardization for precision medicine use cases

机译：FHIR基因组学：促进精密药物用例的标准化
- 作者：Gil Alterovitz;Bret Heale;James Jones;David Kreda;Fan Lin;Lei Liu;Xin Liu;Kenneth D. Mandl;David W. Poloway;Rachel Ramoni;Alex Wagner;Jeremy L. Warner
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
55.Whole slide images reflect DNA methylation patterns of human tumors

机译：整个幻灯片图像反映了人类肿瘤的DNA甲基化模式
- 作者：Hong Zheng;Alexandre Momeni;Pierre-Louis Cedoz;Hannes Vogel;Olivier Gevaert
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
56.Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation

机译：新兴策略弥合药物研究组研究与临床实施的差距
- 作者：Volker M. Lauschke;Magnus Ingelman-Sundberg
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
57.The special considerations of gene therapy for mitochondrial diseases

机译：线粒体疾病基因治疗的特殊考虑因素
- 作者：Jesse Slone;Taosheng Huang
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
58.Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

机译：来自甲基化曲线评分的显着超出样本分类，用于肌营养的外侧硬化
- 作者：Marta F. Nabais;Tian Lin;Beben Benyamin;Kelly L. Williams;Fleur C. Garton;Anna A. E. Vinkhuyzen;Futao Zhang;Costanza L. Vallerga;Restuadi Restuadi;Anna Freydenzon;Ramona A. J. Zwamborn;Paul J. Hop;Matthew R. Robinson;Jacob Gratten;Peter M. Visscher;Eilis Hannon;Jonathan Mill;Matthew A. Brown;Nigel G. Laing;Karen A. Mather;Perminder S. Sachdev;Shyuan T. Ngo;Frederik J. Steyn;Leanne Wallace;Anjali K. Henders;Merrilee Needham;Jan H. Veldink;Susan Mathers;Garth Nicholson;Dominic B. Rowe;Robert D. Henderson;Pamela A. McCombe;Roger Pamphlett;Jian Yang;Ian P. Blair;Allan F. McRae;Naomi R. Wray
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
59.Evaluating the promise of inclusion of African ancestry populations in genomics

机译：评估纳入基因组学中的非洲血统群体的承诺
- 作者：Amy R. Bentley;Shawneequa L. Callier;Charles N. Rotimi
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
60.Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder

机译：单细胞精子转录om和来自父亲的父亲，没有自闭症谱系疾病
- 作者：Delia Tomoiaga;Vanessa Aguiar-Pulido;Shristi Shrestha;Paul Feinstein;Shawn E. Levy;Christopher E. Mason;Jeffrey A. Rosenfeld
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
61.The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

机译：调整基线对药物基因组 - 宽协会研究的影响
- 作者：Akinyemi Oni-Orisan;Tanushree Haldar;Dilrini K. Ranatunga;Marisa W. Medina;Catherine Schaefer;Ronald M. Krauss;Carlos Iribarren;Neil Risch;Thomas J. Hoffmann
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
62.Proneural and mesenchymal glioma stem cells display major differences in splicing and lncRNA profiles

机译：散装和间充质胶质瘤干细胞显示拼接和LNCRNA型材的主要差异
- 作者：Gabriela D. A. Guardia;Bruna R. Correa;Patricia Rosa Araujo;Mei Qiao;Suzanne Burns;Luiz O. F. Penalva;Pedro A. F. Galante
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
63.Spontaneous mutations in the single TTN gene represent high tumor mutation burden

机译：单个TTN基因中的自发突变代表了高肿瘤突变负担
- 作者：Ji-Hye Oh;Se Jin Jang;Jihun Kim;Insuk Sohn;Ji-Young Lee;Eun Jeong Cho;Sung-Min Chun;Chang Ohk Sung
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
64.Functional characterisation guides classification of novel BAP1 germline variants

机译：功能性表征指导新型BAP1种系变体的分类
- 作者：Jing Han Hong;Siao Ting Chong;Po-Hsien Lee;Jing Tan;Hong Lee Heng;Nur Diana Binte Ishak;Sock Hoai Chan;Bin Tean Teh;Joanne Ngeow
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
65.Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

机译：遗传疾病的测量作为接受全基因组测序的婴儿死亡的原因
- 作者：Stephen F. Kingsmore;Audrey Henderson;Mallory J. Owen;Michelle M. Clark;Christian Hansen;David Dimmock;Christina D. Chambers;Laura L. Jeliffe-Pawlowski;Charlotte Hobbs
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
66.Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources

机译：主要美国资源临床药物发生建议中不一致的患病率和类型
- 作者：Tyler Shugg;Amy L. Pasternak;Bianca London;Jasmine A. Luzum
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
67.Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

机译：用于诊断种系疾病的临床全基因组测序分析验证的最佳实践
- 作者：Christian R. Marshall;Shimul Chowdhury;Ryan J. Taft;Mathew S. Lebo;Jillian G. Buchan;Steven M. Harrison;Ross Rowsey;Eric W. Klee;Pengfei Liu;Elizabeth A. Worthey;Vaidehi Jobanputra;David Dimmock;Hutton M. Kearney;David Bick;Shashikant Kulkarni;Stacie L. Taylor;John W. Belmont;Dimitri J. Stavropoulos;Niall J. Lennon
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
68.The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

机译：埃及协作心脏基因组学（eco-Gen）项目：定义健康的志愿者队列
- 作者：Yasmine Aguib;Mona Allouba;Alaa Afify;Sarah Halawa;Mohamed El-Khatib;Marina Sous;Aya Galal;Eslam Abdelrahman;Nairouz Shehata;Amr El Sawy;Mohamed Elmaghawry;Shehab Anwer;Omnia Kamel;Wesam El Mozy;Hadir Khedr;Ahmed Kharabish;Nagwa Thabet;Pantazis I. Theotokis;Rachel Buchan;Risha Govind;Nicola Whiffin;Roddy Walsh;Heba Aguib;Ahmed Elguindy;Declan P. O’Regan;Stuart A. Cook;Paul J. Barton;James S. Ware;Magdi Yacoub
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
69.The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder

机译：常见多基因风险与基因集团对自闭症谱系障碍社会技能小组培训反应的影响
- 作者：Danyang Li;Nora Choque-Olsson;Hong Jiao;Nina Norgren;Ulf Jonsson;Sven B?lte;Kristiina Tammimies
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
70.Improved detection of tumor suppressor events in single-cell RNA-Seq data

机译：改进单细胞RNA-SEQ数据中肿瘤抑制事件的检测
- 作者：Andrew E. Teschendorff;Ning Wang
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
71.Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

机译：来自349个巴基斯坦家庭的1019个人的基因组检测导致高诊断产量和临床效用
- 作者：Huma Cheema;Aida M. Bertoli-Avella;Volha Skrahina;Muhammad Nadeem Anjum;Nadia Waheed;Anjum Saeed;Christian Beetz;Jordi Perez-Lopez;Maria Eugenia Rocha;Salem Alawbathani;Catarina Pereira;Marina Hovakimyan;Irene Rosita Pia Patric;Omid Paknia;Najim Ameziane;Claudia Cozma;Peter Bauer;Arndt Rolfs
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
72.The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations

机译：巴西精密药物倡议（Bipmed）：培养非代表性人口的基因组数据分享
- 作者：Cristiane S. Rocha;Rodrigo Secolin;Maíra R. Rodrigues;Benilton S. Carvalho;Iscia Lopes-Cendes
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
73.Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

机译：PTEN HARARTOMO肿瘤综合征的早期发病肾细胞癌
- 作者：Raymond H. Kim;Xiangling Wang;Andrew J. Evans;Steven C. Campbell;Jane K. Nguyen;Kirsten M. Farncombe;Charis Eng
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
74.Association of CNVs with methylation variation

机译：CNV与甲基化变异的关联
- 作者：Xinghua Shi;Saranya Radhakrishnan;Jia Wen;Jin Yun Chen;Junjie Chen;Brianna Ashlyn Lam;Ryan E. Mills;Barbara E. Stranger;Charles Lee;Sunita R. Setlur
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期
75.Diagnostic utility of whole-genome sequencing for nephronophthisis

机译：肾细胞全基因组测序的诊断效用
- 作者：Romain Larrue;Paul Chamley;Thomas Bardyn;Arnaud Lionet;Viviane Gnemmi;Christelle Cauffiez;Fran?ois Glowacki;Nicolas Pottier;Franck Broly
- 期刊名称：《NPJ genomic medicine.》 | 2020年第1期

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