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European Journal of Medical Genetics|July 6, 2022
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disabilityJing Liu, Baiyun Chen, Yuchun Liu, et al.
European Journal of Medical Genetics|December 10, 2022
SMAD4 loss-of-function mutation predisposes to congenital heart diseaseYin Wang, Ying-Jia Xu, Chen-Xi Yang, et al.
European Journal of Medical Genetics|October 9, 2020
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individualsJoel Salazar-Mendiguchía, Roberto Barriales-Villa, Luis R Lopes, et al.
European Journal of Medical Genetics|October 12, 2020
ANO3 and early-onset dyskinetic encephalopathyAna Jiménez de Domingo, Sara Lopez-Martín, Jacobo Albert, et al.
European Journal of Medical Genetics|October 12, 2020
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosisPaola Evangelidou, Ludmila Kousoulidou, Nicole Salameh, et al.
European Journal of Medical Genetics|October 15, 2020
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)Chrystelle Colas, Valérie Bonadona, Stéphanie Baert-Desurmont, et al.
European Journal of Medical Genetics|March 31, 2020
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencingLaura Batlle-Masó, Anna Mensa-Vilaró, Manuel Solís-Moruno, et al.
European Journal of Medical Genetics|July 6, 2021
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, et al.
European Journal of Medical Genetics|July 6, 2021
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian caseKhouloud Rjiba, Najla Soyah, Molka Kammoun, et al.
European Journal of Medical Genetics|June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndromeMounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
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