European Journal of Human Genetics
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
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Nature Publishing Group
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European Journal of Human Genetics
© 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
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European Journal of Human Genetics
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https://www.nature.com/articles/s41431-024-01590-2
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01590-2Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis]]>
Enrica MarchionniDaniele GuadagnoloGioia MastromoroAntonio Pizzuti
doi:10.1038/s41431-024-01590-2
European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01590-2
2024-03-15
European Journal of Human Genetics
10.1038/s41431-024-01590-2
https://www.nature.com/articles/s41431-024-01590-2
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GJB2 in Queensland, Australia: V37I and mild hearing loss predominates]]>
https://www.nature.com/articles/s41431-024-01584-0
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01584-0The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates]]>
GJB2 in Queensland, Australia: V37I and mild hearing loss predominates]]>
Rebecca KriukelisMichael T. GabbettRachael BeswickAideen M. McInerney-LeoCarlie DriscollKaren Liddle
doi:10.1038/s41431-024-01584-0
European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01584-0
2024-03-15
European Journal of Human Genetics
10.1038/s41431-024-01584-0
https://www.nature.com/articles/s41431-024-01584-0
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ACTA2 variants associated with aortic aneurysms]]>
https://www.nature.com/articles/s41431-024-01591-1
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01591-1A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms]]>
ACTA2 variants associated with aortic aneurysms]]>
Cristina CalderanUgo SorrentinoLuca PersanoEva TrevissonGeppo SartoriLeonardo SalviatiMaria Andrea Desbats
doi:10.1038/s41431-024-01591-1
European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01591-1
2024-03-15
European Journal of Human Genetics
10.1038/s41431-024-01591-1
https://www.nature.com/articles/s41431-024-01591-1
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https://www.nature.com/articles/s41431-023-01529-z
European Journal of Human Genetics, Published online: 14 March 2024; doi:10.1038/s41431-023-01529-zSystematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications]]>
Marije A. van der GeestEls L. M. MaeckelbergheMarielle E. van GijnAnneke M. LucassenMorris A. SwertzIrene M. van LangenMirjam Plantinga
doi:10.1038/s41431-023-01529-z
European Journal of Human Genetics, Published online: 2024-03-14; | doi:10.1038/s41431-023-01529-z
2024-03-14
European Journal of Human Genetics
10.1038/s41431-023-01529-z
https://www.nature.com/articles/s41431-023-01529-z
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https://www.nature.com/articles/s41431-024-01585-z
European Journal of Human Genetics, Published online: 12 March 2024; doi:10.1038/s41431-024-01585-zRe-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study]]>
John Gásdal KarstensenThomas v. Overeem HansenJohan BurischMalene DjursbyHelle HøjenMajbritt Busk MadsenNiels JespersenAnne Marie Jelsig
doi:10.1038/s41431-024-01585-z
European Journal of Human Genetics, Published online: 2024-03-12; | doi:10.1038/s41431-024-01585-z
2024-03-12
European Journal of Human Genetics
10.1038/s41431-024-01585-z
https://www.nature.com/articles/s41431-024-01585-z
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SAMD12 locus]]>
https://www.nature.com/articles/s41431-024-01586-y
European Journal of Human Genetics, Published online: 12 March 2024; doi:10.1038/s41431-024-01586-yOrigin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus]]>
SAMD12 locus]]>
Xinhui ChenFan ZhangYihua ShiHaotian WangMiao ChenDehao YangLebo WangPeng LiuFei XieJiawen ChenAisi FuBen HuBo WangZhiyuan OuyangSheng WuZhiru LinZhidong CenWei Luo
doi:10.1038/s41431-024-01586-y
European Journal of Human Genetics, Published online: 2024-03-12; | doi:10.1038/s41431-024-01586-y
2024-03-12
European Journal of Human Genetics
10.1038/s41431-024-01586-y
https://www.nature.com/articles/s41431-024-01586-y
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https://www.nature.com/articles/s41431-024-01571-5
European Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s41431-024-01571-5Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area]]>
M. PanequeR. O´SheaA. NarravulaE. SiglenA. CiucaA. AbulíC. Serra-Juhé
doi:10.1038/s41431-024-01571-5
European Journal of Human Genetics, Published online: 2024-03-11; | doi:10.1038/s41431-024-01571-5
2024-03-11
European Journal of Human Genetics
10.1038/s41431-024-01571-5
https://www.nature.com/articles/s41431-024-01571-5
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CDC45]]>
https://www.nature.com/articles/s41431-024-01583-1
European Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s41431-024-01583-1A second hotspot for pathogenic exon-skipping variants in CDC45]]>
CDC45]]>
Kelly SchochMischa S. G. RueggBridget J. FellowsJoseph CaoSabine UhrigStephanie Einsele-ScholzSaskia BiskupSamuel R. A. HawardenVincenzo SalpietroValeria CapraChris M. BrownAndrea AccogliVandana ShashiLouise S. Bicknell
doi:10.1038/s41431-024-01583-1
European Journal of Human Genetics, Published online: 2024-03-11; | doi:10.1038/s41431-024-01583-1
2024-03-11
European Journal of Human Genetics
10.1038/s41431-024-01583-1
https://www.nature.com/articles/s41431-024-01583-1