Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey.
Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey.
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面板、外显子组、基因组等——通过诊断奥德赛寻找最佳路径。
DOI：
10.1016/j.pcl.2023.06.001
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发表时间：
2023
影响因子：
2.6
通讯作者：
Miller,DannyE
中科院分区：
文献类型：
--
作者：
Lenahan,ArthurL;Squire,AudreyE;Miller,DannyE
ES的引入导致了我们临床基因检测方法的巨大变化。虽然每一种遗传方式在适当的靶向时都是临床上有用的，但每一种遗传方式都有重要的局限性，可能需要进一步的测试或咨询。总体而言，今天的个人及其家庭获得精确基因诊断的可能性甚至比十年前更高。改善预后信息、更准确的咨询以及
The introduction of ES led to a dramatic change in our approach to clinical genetic testing. While every genetic modality is clinically useful when appropriately targeted, there are important limitations for each that may warrant further testing or counseling. Overall, individuals and their families today have a higher likelihood of obtaining a precise genetic diagnosis than even a decade ago. There are numerous benefits from improved prognostic information, more accurate counseling, and the
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影响因子：
5.7
作者：
Feldman, Eric A.
通讯作者：
Feldman, Eric A.
影响因子：
26.1
作者：
NICUSeq Study Group;Krantz ID;Medne L;Weatherly JM;Wild KT;Biswas S;Devkota B;Hartman T;Brunelli L;Fishler KP;Abdul-Rahman O;Euteneuer JC;Hoover D;Dimmock D;Cleary J;Farnaes L;Knight J;Schwarz AJ;Vargas-Shiraishi OM;Wigby K;Zadeh N;Shinawi M;Wambach JA;Baldridge D;Cole FS;Wegner DJ;Urraca N;Holtrop S;Mostafavi R;Mroczkowski HJ;Pivnick EK;Ward JC;Talati A;Brown CW;Belmont JW;Ortega JL;Robinson KD;Brocklehurst WT;Perry DL;Ajay SS;Hagelstrom RT;Bennett M;Rajan V;Taft RJ
通讯作者：
Taft RJ
影响因子：
2
作者：
Hunter, Jessica;Rivero-Arias, Oliver;Leal, Jose
通讯作者：
Leal, Jose
与基于多基因组的测试相比，基因组测序测试产生的不确定性更少，诊断率更高：超过 150 万次测试的结果
DOI：
10.1101/2022.09.21.22279949
发表时间：
2022
期刊：
The Journal of pediatrics
影响因子：
--
作者：
H. Rehm;J. Alaimo;S. Aradhya;P. Bayrak;H. Best;R. Brandon;J. Buchan;E. Chao;E. Chen;J. Clifford;A. Cohen;L. Conlin;S. Das;K. W. Davis;D. del Gaudio;F. del Viso;C. Divincenzo;M. Eisenberg;L. Guidugli;M. Hammer;S. M. Harrison;K. Hatchell;L. Havens Dyer;L. Hoang;J. Holt;V. Jobanputra;I. Karbassi;H. Kearney;M. Kelly;J. M. Kelly;M. L. Kluge;T. Komala;P. Kruszka;L. Lau;M. Lebo;C. Marshall;D. McKnight;K. Mcwalter;Y. Meng;N. Nagan;C. Neckelmann;N. Neerman;Niu
通讯作者：
Niu
儿童基因组答案：超过 1000 个儿科罕见病基因组的动态分析
DOI：
10.1101/2021.10.07.21264628
发表时间：
2021
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
A. Cohen;E. Farrow;A. Abdelmoity;J. Alaimo;S. Amudhavalli;John T. Anderson;Lalit R. Bansal;Lauren E Bartik;P. Baybayan;Bradley Belden;C. Berrios;R. Biswell;P. Buczkowicz;Orion J. Buske;Shreyasee Chakraborty;W. Cheung;Keith A. Coffman;Ashley M. Cooper;L. Cross;Tom Curran;T. T. T. Dang;Mary M. Elfrink;Kendra L. Engleman;Erin Fecske;Cynthia Fieser;Keely Fitzgerald;E. Fleming;Randi N. Gadea;J. Gannon;Rose Gelineau;M. Gibson;Jeffrey Goldstein;E. Grundberg;Kelsee Halpin;Brian S. Harvey;B. Heese;Wendy Hein;Suzanne M. Herd;S. Hughes;M. Ilyas;J. Jacobson;J. Jenkins;Shao Jiang;J. J. Johnston;K. Keeler;J. Korlach;J. Kussmann;Christine C. Lambert;Caitlin E. Lawson;J. Le Pichon;J. S. Leeder;Vicki C. Little;Daniel A. Louiselle;M. Lypka;Brittany McDonald;Neil A. Miller;Ann C. Modrcin;Annapoorna Nair;Shelby H. Neal;C. Oermann;D. Pacicca;Kailash Pawar;N. Posey;Nigel J. Price;L. Puckett;Julio F. Quezada;N. Raje;W. Rowell;E. Rush;V. Sampath;Carol J. Saunders;Caitlin R. Schwager;R. Schwend;Elizabeth Shaffer;Craig Smail;Sarah Soden;Meghan E. Strenk;Bonnie R. Sullivan;Brooke Sweeney;J. Tam;Adam M. Walter;Holly I. Welsh;A. Wenger;L. Willig;Yun Yan;S. Younger;Dihong Zhou;T. Zion;I. Thiffault;T. Pastinen
通讯作者：
T. Pastinen