Crossref indexed
European Journal of Medical Genetics
Published by Elsevier.
ISSN 1769-7212
Submit to this journal
01
Aims & scope
European Journal of Medical Genetics publishes peer-reviewed research. Manuscripts pass a technical check and a scope check by the handling editor before going to independent reviewers.
02
Recently published
Rare SERPINH1 and SERPINF1 variants in autosomal recessive osteogenesis imperfecta type X and type VI
DOI 10.1016/j.ejmg.2026.105109 Fan Wang, Alice Costantini, Sare Betul Kaygusuz, Jelmer Legebeke, Serap Turan, Outi Mäkitie · 2026
Neurofibromatosis 1 (NF1) gene testing reveals rising variant allele fraction as an early warning sign of juvenile myelomonocytic leukemia
DOI 10.1016/j.ejmg.2026.105104 Sirkku Peltonen, Christian Johansson, Marika Grönroos, Minna Paavola, Kirsi Jahnukainen, Samppa Ryhänen, Carina Wallgren-Pettersson, Minna Pöyhönen, Pilvi Riihilä, Juha Peltonen, Maria K. Haanpää · 2026
Sex chromosome dosage effects on human brain structure and function: a systematic review of neuroimaging findings in sex chromosome aneuploidies
DOI 10.1016/j.ejmg.2026.105107 Chaira Serrarens, Amy L. Sylvester, Davide Passaro, David E.J. Linden, Therese A.M.J. van Amelsvoort, Claudia Vingerhoets · 2026
Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF)
DOI 10.1016/j.ejmg.2026.105103 Elis Riin Tars-Hurt, Mare Lintrop, Riina Zordania, Laura Mauring, Ülle Murumets, Imbi Kuus, Katrin Õunap · 2026
A de novo gain-of-function variant of DNM1L causes developmental encephalopathy
DOI 10.1016/j.ejmg.2026.105106 Shangsheng Dong, Yanjuan Chen, Mengfang Yan, Xiaoli Huang, Qiannan Deng, Jianxiang Liao, Ke Zhang · 2026
Heterogeneous Biochemical Responses to Migalastat in Real-World Cases of Fabry Disease
DOI 10.1016/j.ejmg.2026.105111 Takuya Hase, Hayaki Okamoto, Shunsuke Goto, Hideki Fujii · 2026
Genetic susceptibility in Takotsubo syndrome: a candidate gene association analysis in the French TAKOGENE cohort
DOI 10.1016/j.ejmg.2026.105108 Laury Nicolas, Sophie Garnier, Edouard Gerbaud, Franck Paganelli, Denis Doyen, Pascal Motreff, Patrick Meimoun, Erwan Donal, Vincent Probst, Grégory Ducrocq, Jean-François Aupetit, Ariel Cohen, Christophe Tribouilloy, Olivier Nallet, Nicolas Lamblin, Damien Logeart, Frédéric Moulin, Eric Durand, Olivier Varenne, Pascal Lim, Taing Lieng, Robert Olaso, Doris Lechner, Jean-François Deleuze, Philippe Charron, Nicolas Mansencal · 2026
Hidden complexity of interchromosomal insertions revealed by optical genome mapping: report of two cases and literature review
DOI 10.1016/j.ejmg.2026.105110 Fatma MAAZOUN, Aziza LEBBAR, Aurélie COUSSEMENT, Samira AHMED ELIE, Virginie HEUZE, Khaled POCATE, Noémie CLAUDEL, Andreea FETECAU, Thierry BIENVENU, Jean-Michel DUPONT · 2026
Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability
DOI 10.1016/j.ejmg.2026.105097 Jingjing Zhang, Jing He, Hairui Pan, Dan Wang, Qinghua Zhang, Shengju Hao, Ling Hui, Chuan Zhang · 2026
Smith-Kingsmore syndrome associated neurovascular complications and stroke: report of two cases
DOI 10.1016/j.ejmg.2026.105094 Eoin P. Donnellan, Erin L. Langton, Ailbhe Moran, Elaine Reade, Nicholas M. Allen · 2026
WLS-related Zaki syndrome: New clinical features and evidence for p.(Tyr478Cys) variant as a possible mutational hotspot
DOI 10.1016/j.ejmg.2026.105101 Naeim Ehtesham, Mahta Mazaheri, Zahra Sadr, Mahdieh Yavari, Hossein Ahrar · 2026
Spontaneous splenic rupture and uterine serosal bleeding at 26 Weeks in COL3A1-related vascular Ehlers–Danlos syndrome
DOI 10.1016/j.ejmg.2026.105102 Zihan Liu, Xiangzhi Fang, Azhen Wang, Peng Xu, Yuan Yin, Ruiting Li, Chaolin Huang, Limin Duan, Hong Qi · 2026
Journal metrics
Total DOIs2,910
Current DOIs208
Backfile DOIs2,702
Published here0
Publish with us
Five steps, about 15 minutes. You can save and come back at any point.
Submit manuscript