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European Journal of Human Genetics cover

European Journal of Human Genetics

IF4.6
Papers6553
Citations12435
Journal Papers 25350
Publication Date
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Health inequalities in precision medicine: A systematic review
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)
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
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
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)
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
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
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 cohort
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
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
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
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
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
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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5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-22
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deleteLaurine Challeat; Solène Remize; Tarek Alouane; David Laurenceau; Chloé Boisseau; Catherine Hubert; Noémie Celton; Nathalie Le Du; Sandrine Vonwill; Camille Gevrin; Lara Kerbellec; Céline Pebrel-Richard; Matthieu Egloff; Caroline Navarro; Isabelle Perthus; Tanguy Niclass; Roseline Caumes; Jade Fauqueux; Médéric Jeanne; Thomas Smol; Frédéric Laumonnier; Marie-Laure Vuillaume
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digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-22
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deleteTerence Diane Fabella; Joery den Hoed; Eva Maria Cutiongco-de la Paz; Carmencita Padilla; Chris Hettinga; Karel de Groot; Martin Lodén-van Straaten; Tatiana C. Santos; Richiel van den Berg; Erik A. Sistermans; Jan Schouten
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The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-21
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PREAI
deleteAndrew Latchford; Terri McVeigh
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NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-21
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deleteTomer Poleg; Noam Hadar; Vadim Dolgin; Ginat Narkis; Monica Neuhaus; Ilana Aminov; Ekaterina Eremenko; Amit Safran; Nadav Agam; Matan M. Jean; Ofek Freund; Uriel Wachsman; Bibi Kanengisser-Pines; Lidia Osyntsov; Esther Manor; Ohad S. Birk
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Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-18
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deleteHimanshu Goel
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Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-18
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deleteIsabella-Anna Lazaridi; Timothy Hall; Helen Hanson; James Fasham; Emma L. Baple; Michael N. Weedon; Caroline F. Wright; Leigh Jackson
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Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
deleteEuropean Journal of Human Genetics
IF4.6
delete2026-09-17
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deleteFlorencia Haase; Oselyne T. W. Ong; Irene Valenzuela; Adam M. Bournazos; Zainab Amasseri; Frenny Sheth; Jayesh Sheth; Harsh Sheth; Rebecca Buchert; Tobias B. Haack; Joris Andrieux; Thomas Liehr; Alma Kuechler; Daniel de Los Reyes Helices; Jessica Merjane; Sandra T. Cooper; Taroh Kinoshita; Yoshiko Murakami; Richard Webster; Wendy Gold; Leszek Lisowski
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