日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

利用PacBio长读长测序进行全基因组甲基化检测和表观遗传特征分析

Ivashchenko, Véronique; de Groot, Michelle; Derks, Ronny; den Ouden, Amber; Khazeeva, Gelana; van den Heuvel, Simone; Timmermans, Raoul; Corominas Galbany, Jordi; Pfundt, Rolph; Hofste, Tom; Yntema, Helger; Vissers, Lisenka; Hoischen, Alexander; Hampstead, Juliet; Gilissen, Christian

Distinct mechanisms of CNV formation at the human 15q13.3 locus

人类15q13.3位点CNV形成的不同机制

Höps, Wolfram; Porubsky, David; Yoo, DongAhn; de Groot, Michelle; den Ouden, Amber; Derks, Ronny; Hoekzema, Kendra; Hoischen, Alexander; Yntema, Helger G; Caro, Pilar; De Falco, Alessandro; van Bon, Bregje; Brunetti-Pierri, Nicola; Schaaf, Christian P; Eichler, Evan E; Gilissen, Christian

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

用于检测难以检测的临床相关变异的高保真长读基因组测序

Höps, Wolfram; Weiss, Marjan M; Derks, Ronny; Galbany, Jordi Corominas; Ouden, Amber den; van den Heuvel, Simone; Timmermans, Raoul; Smits, Jos; Mokveld, Tom; Dolzhenko, Egor; Chen, Xiao; van den Wijngaard, Arthur; Eberle, Michael A; Yntema, Helger G; Hoischen, Alexander; Gilissen, Christian; Vissers, Lisenka E L M

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

通过对174名携带单等位基因致病变异的个体进行基因组测序,揭示罕见孟德尔遗传病中的隐性等位基因

Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P M; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G; Yntema, Helger G; Vissers, Lisenka E L M

Hierarchical Riblet Structures for Enhanced Drag Reduction and Broader Operational Range in Water Pipelines

用于增强减阻效果和拓宽输水管道运行范围的分层肋条结构

Mohammadpour Chehrghani, Mirvahid; Seyyed Monfared Zanjani, Jamal; Yntema, Doekle; Matthews, David; de Rooij, Matthijn

The impact of a humanized bile acid composition on atherosclerosis development in hypercholesterolaemic Cyp2c70 knockout mice

人源化胆汁酸组合物对高胆固醇血症 Cyp2c70 基因敲除小鼠动脉粥样硬化发展的影响

Tess Yntema, Tim R Eijgenraam, Niels J Kloosterhuis, Rick Havinga, Mirjam H Koster, Milaine V Hovingh, Jan Freark de Boer, Debby P Y Koonen #, Folkert Kuipers #

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss

基因分型检测的感音神经性听力损失患者的耳蜗植入结果

Fehrmann, M L A; Haer-Wigman, L; Kremer, H; Yntema, H G; Thijssen, M E G; Mylanus, E A M; Huinck, W J; Lanting, C P; Pennings, R J E

Genome sequencing as a generic diagnostic strategy for rare disease

基因组测序作为罕见病的通用诊断策略

Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Corominas Galbany, Jordi; Weiss, Marjan; Blok, Marinus J; Olde Keizer, Richelle A C M; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D C; Ligtenberg, Marjolijn J L; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G; Nelen, Marcel; Yntema, Helger G; Vissers, Lisenka E L M

Heart failure-induced microbial dysbiosis contributes to colonic tumour formation in mice

心力衰竭引起的微生物失调导致小鼠结肠肿瘤形成

Sanne de Wit, Lotte Geerlings, Canxia Shi, Just Dronkers, Elisabeth M Schouten, Gillian Blancke, Vanessa Andries, Tess Yntema, Wouter C Meijers, Debby P Y Koonen, Lars Vereecke, Herman H W Silljé, Joseph-Pierre Aboumsallem, Rudolf A de Boer