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European Journal of Human Genetics 封面图

European Journal of Human Genetics

IF4.6
论文数25358
被引数12435
期刊论文 25358
发表时间
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Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis深部内含子NIPBL变异通过整合表观基因组学和转录组学分析揭示了未解决的科恩德尔朗格综合征的遗传基础
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-19
delete0
PREAI
deleteSophie Rondeau; Céline Huber; Jennifer Kerkhof; Bekim Sadikovic; Valérie Cormier-Daire
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Maternal perspectives on sharing newborn genomic data产妇对新生儿基因组数据共享的看法
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-16
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PREAI
deleteBernarda Prosenc; Mojca Cizek Sajko; Gorazd Kavsek; Marusa Herzog; Borut Peterlin
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Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implicationsHLRCC综合征中的子宫平滑肌瘤：临床表现、组织病理学、治疗模式及生殖影响的范围综述
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-16
delete0
PREAI
deleteReda Hessi; Ethan Bendayan; Lorena Alexandra Mija; Lydia Ouchene; Megha Udupa; Raquel Lazarowitz; Lili Fu; Shuk On Annie Leung; Tania Cruz Marino; William D. Foulkes; Elena Netchiporouk
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Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization利用异常表达分析和表型驱动优先排序对线粒体疾病常规诊断的优化RNA-seq工作流程
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-12
delete0
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deleteLucile Riera-Navarro; Eléonore Birgy; Samira Ait-El-Mkadem Saadi; Alexandre Janin; Annabelle Chaussenot; Sarra Bouri; Konstantina Fragaki; Bruno Francou; Patrick Edery; Elsa Kaphan; Gaetan Lesca; Fabienne Ory Magne; Pascal Cintas; Julien Maquet; Celia Hoebeke; Aline Cano; Alain Fouilhoux; Marion Aubert Mucca; Olivier Patat; Véronique Paquis-Flucklinger; Sylvie Bannwarth; Vincent Procaccio; Marco Lorenzi; Cécile Rouzier
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Characterisation of a Portuguese origin founder missense variant in MSH6葡萄牙起源的MSH6基因始祖错义变异的特征分析
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-09
delete0
PREAI
deleteKenzie Melvill; Leora Witkowski; Céline Domecq; Nancy Hamel; Justin Mayers; Sofia Maia; Manuel R. Teixeira; Carla Pinto; Inês Francisco; Cristina Albuquerque; Léa Guerrini-Rousseau; Olivia C. Tan; Kevin McDonnell; Alexandra Capasso; George Chong; Victoria Marcus; William D. Foulkes
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Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment德国父母对基因组新生儿筛查的反应与偏好：基于情景调查实验的发现
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-08
delete0
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deleteElena Sophia Doll; Julia Mahal; Karla Alex; Carlotta Julia Mayer; Ulrike Mütze; Heiko Brennenstuhl; Ralf Müller-Terpitz; Stefan Kölker; Christian P. Schaaf; Eva C. Winkler; Hadley Stevens Smith; Beate Ditzen
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Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study单基因肌萎缩侧索硬化症患者遗传检测与咨询：一项北芬兰回顾性单中心研究
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-08
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deleteMaari Kytöharju; Jukka S. Moilanen; Mika H. Martikainen
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Health inequalities in precision medicine: A systematic review精准医学中的健康不平等：一项系统评价
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-06
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deleteZeinab M. Hassanein; Manpreet Bains; Rupinder Kaur Bajwa; Jo Leonardi-Bee; Leah Jayes; Ilze Bogdanovica; Jeremiah Donoghue; Linda Amah; Patricia Egwumba; Fatimah Aiyelabegan; Salah Hassan; Nicola Fletcher; Nadeem Qureshi
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Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)发育障碍中的诊断路径：两个多中心队列（2012–2022）十年间的比较
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-06
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deleteJulien Maraval; Céline Dampfhoffer; Antoine Journé; Céline Poitevin; Marie Laure Asensio; Niki Sabour; Anne-Sophie Briffaut; Didier Lacombe; Marta Spodenkiewicz; David Genevieve; Olivier Patat; Camille Cenni; Philippe Khau Van Kien; Laëtitia Lambert; Mathilde Renaud; Hortense Thomas; Céline Poirsier; Elise Schaefer; Juliette Piard; Yline Capri; Rodolphe Dard; Cyril Mignot; André Delahaye-Duriez; Marilyn Lackmy; Sylvie Odent; Annick Toutain; Marie-Line Jacquemont; Bertrand Isidor; Dominique Bonneau; Séverine Audebert-Bellanger; Radka Stoeva; Florence Demurger; Odile Boute; Cindy Colson; Florence Jobic; Bénédicte Deemer; Anne-Marie Guerrot; Aline Vincent-Devulder; Pauline Monin; Sabine Sigaudy; Mathieu Milh; Isabelle Marey; Christine Francannet; Fanny Laffargue; Renaud Touraine; Maude Grelet; Gwenaël Le Guyader; Matthieu Egloff; Frédéric Bilan; Jeanne Amiel; Caroline Racine; Christine Vinciguera; Pierre Blanc; Christel Thauvin-Robinet; Laurent Demougeot; Aurore Pélissier; Estelle Colin; Christine Binquet; Laurence Faivre
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Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study法国卫生专业人员对扩展新生儿筛查（包括或排除基因组学）的看法：SeDeN-p2研究的结果
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-06
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deleteCamille Level; Frédéric Huet; Dominique Salvi; Christel Thauvin Robinet; Emmanuel Simon; Margot Lemaitre; Christine Peyron; Laurence Faivre
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Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy肥厚型心肌病中变异基因的特异性重分类模式
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-06
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deleteAthanasios Bakalakos; Rebeca Lorca; Alexandros Protonotarios; Douglas Ewan Cannie; Marion van Vugt; Imogen Kate Heenan; Gabrielle Norrish; Juan Pablo Kaski; Petros Syrris; Perry Mark Elliott
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Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM)延迟获得临床遗传学服务期间的患者伤害。一项系统文献综述与合成（无荟萃分析，SWiM）
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-05
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deleteMichaela Cormack; Janet Long; Alan Ma; Nabila Binte Haque; Maryam Vizheh; Amanda Springer; Mary Simons; Peter Hibbert; Jeffrey Braithwaite
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Characterising the ‘Genomics Friend’: Experiences of learning genomics in the workplace to inform implementation efforts探究“基因组学伙伴”：通过工作场所学习基因组学的经验以指导实施工作
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-03
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deleteAlice Kim; Jennifer Weller-Newton; Louise Keogh; Amy Nisselle
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Genomics cycle: discover, diagnose, interpret, act基因组学循环：发现、诊断、解释、行动
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-03
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PREAI
deleteSeda S. Zonuzi
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Insertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohortTAF15外显子15的插入或缺失变异是影响日本队列肌萎缩侧索硬化症预后的遗传因素
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-10-01
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deleteYuya Hatano; Tomohiko Ishihara; Mari Tada; Yutong Li; Sachiko Hirokawa; Masahiro Uemura; Shoichiro Ando; Akio Yokoseki; Akiyoshi Kakita; Osamu Onodera
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Expanded carrier screening in China: a focused narrative review and conceptual implementation framework中国扩展性基因携带者筛查：聚焦叙事性综述及概念实施框架
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-30
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PREAI
deleteLiling Liu; Honglian Wu; Ming Zhang; Yinghui Ye; Dong Yu; Ming Qi; Xutao Hong
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Manufactured gametes and the principle of genetic caution人工配子与遗传谨慎原则
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-30
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deleteJoona Räsänen; Adrian Villalba; Julian Savulescu
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Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project对威尔士参与英国100,000基因组计划患者的基因组数据重新分析，使诊断率翻倍
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-28
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deleteJana Jezkova; Martin A. McClatchey; Sophie Shaw; Rhys Vaughan; Joseph Halstead; Iris Egner; Sharon D. Whatley; Arveen Kamath; Oliver Murch; Vinod Varghese; Rachel Irving; Jennifer F. Gardner; Ayesha Ahmed; Ian Tully; Vani Jain; Mark T. Rogers; Francis H. Sansbury; Angus J. Clarke; Caroline Pottinger; Maribel Verdesoto Rodriguez; Johann te Water Naudé; Aimee Bettridge; Alexandra C. Martin-Geary; Nils Wagner; Julien Gagneur; Marcela Votruba; David J. Bunyan; Kevin Ashelford; Peter Giles; Hywel J. Williams; Sian Morgan; Julian R. Sampson; Andrew E. Fry
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Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study多学科管理与儿科癌症易感综合征的遗传评估：一项回顾性队列研究
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-25
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deleteNicola Dikow; Anna Lisa Nitschke; Steffen Hirsch; Eva Roth; Laura Orec; Tom Fischer; Daniela Choukair; Kerstin Grund; Peggy Lüttich; Christian Sutter; Katrin Hinderhofer; Heiko Brennenstuhl; Cornelis M. van Tilburg; Olaf Witt; Markus Großmüller; Alexander Fichtner; Katrin Willig; David T. W. Jones; Maja Hempel; Andreas E. Kulozik; Ute Bartels; Till Milde; Christian P. Schaaf; Stefan M. Pfister; Joachim Kunz; Kristian W. Pajtler
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Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia双等位基因DAW1变异揭示其在非纤毛运动障碍性异轴发育中的组织特异性作用
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-22
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deleteDana Urbatsch; Anburaj Jeyaraj; Shruti Bedekar; Venkatramanan Rao; Shelby C. White; Matthew J. Thomas; Andrea Garrod; Christina Peroutka; Aakrosh Ratan; Saurabh S. Kulkarni
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