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European Journal of Medical Genetics

IF1.7
Papers31
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Journal Papers 31
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Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome
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deleteInsalaco, Anna; Rossi, Cecilia; Bertucci, Emma; Fiorentini, Chiara; Soresina, Annarosa; Giliani, Silvia; Porta, Fulvio; Berardi, Alberto; Lugli, Licia
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Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype
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deleteMorana, Elisabetta; Baronio, Federico; Lanari, Marcello; Candela, Egidio; Ortolano, Rita; Bonetti, Simone; Bronzetti, Gabriele; Biasucci, Giacomo; Hasan, Tammam; Ragni, Luca; Donti, Andrea
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The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis
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deleteBuoncuore, Giorgia; Salvatore, Marco; Rocchetti, Adele; Facciaroni, Lorenzo; Veneselli, Edvige; Elia, Maurizio; Russo, Silvia; Armando, Michelina; Germano, Michele; Prisco, Tommaso; Sartori, Stefano; Marinella, Gemma; Battini, Roberta; Gobbi, Giuseppe; Torreri, Paola
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Thoracic chordoma following intracranial meningioma in a patient with a novel germline SMARCE1 variant
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deleteTsurubuchi, Takao; Yamaki, Yuni; Fukushima, Hiroko; Sato, Kosuke; Takahashi, Hiroshi; Karita, Hiroki; Sakamoto, Noriaki; Mizumoto, Masashi; Nakai, Kei; Sakurai, Hideyuki; Muroi, Ai; Matsuda, Masahide; Takada, Hidetoshi; Ishikawa, Eiichi
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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion
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deleteRomano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria
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A novel RORA genetic variant associated with early-onset obesity and insomnia (vol 76, 105028, 2025)
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deleteOuellette, Alexie; Allain, Eric P.; Almaghraby, Abdullah; Bouhamdani, Dominique; Ben Amor, Mouna
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Diagnostic yield of whole exome sequencing in a cohort of 825 patients
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deleteAndersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet
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Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant
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deleteFetecau, Andreea-Catalina; Grotto, Sarah; Anselem, Olivia; Molac, Clemence; Bertrand, Jeremy; Loeuilletc, Laurence; Attie-Bitach, Tania
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Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
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deleteLauerova, Barbora; Mazanec, Radim; Eggerman, Katja; Brozkova, Dana Safka; Lischka, Annette; Seeman, Pavel; Mikula, Mikulas; Lassuthova, Petra
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Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort
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deleteGupta, Shifali; Bawa, Pratibha; Kumari, Anu; Panigrahi, Inusha; Srivastava, Priyanka; Kaur, Anupriya
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An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank
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deleteCocchella, Giorgio; Phung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Brown, Sarah; Ofidis, Demetrios; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson W.; Kallish, Staci; Sirugo, Giorgio; Weaver, JoEllen; Nathanson, Katherine L.; Rader, Daniel J.; Bradbury, Angela R.
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French recommendations on multi-gene panel testing in renal cell carcinoma
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deleteGiraud, Sophie; Berthet, Pascaline; Abadie, Caroline; Andrieu, Nadine; Benusiglio, Patrick R.; Bonadona, Valerie; Caron, Olivier; Corsini, Carole; Coupier, Isabelle; Crivelli, Louise; Delnatte, Capucine; Devulder, Pierre; De Pauw, Antoine; Dussart, Sophie; Gimenez-Roqueplo, Anne-Paule; Lejeune-Dumoulin, Sophie; Moretta, Jessica; Muller, Marie; Tinat, Julie; Richard, Stephane; Nogues, Catherine; Burnichon, Nelly
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Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3
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deleteKajiwara, Kenta; Liang, Qiaowei; Uchiyama, Yuri; Chong, Pin Fee; Ichimiya, Yuko; Monji, Norihisa; Shimokawa, Sakurako; Sonoda, Motoshi; Watanabe, Eriko; Sakata, Ayumi; Sonoda, Yuri; Akamine, Satoshi; Ishimura, Masataka; Murakami, Yusuke; Kunisaki, Yuya; Sonoda, Koh-Hei; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shouichi
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Are NONO variants linked to congenital heart disease? Patient reports and review
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deleteHe, Peiqing; Zou, Sini; Chen, Jianxiong; Wang, Meiyi; Lin, Peng; Lou, Jiwu; Ma, Zhanying; Li, Zhen; Yan, Tizhen
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Rare features in Feingold syndrome type 1
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deleteFerroul, Fanny; Snanoudj, Sarah; Leterme, Gaelle; Mezouaghi, Kheira; Kieffer-Traversier, Marie; Celse, Tristan; Dospeux, Jessica; Huby, Thomas; Marzin, Pauline; Morel, Godelieve; Payet, Frederique; Remy, Mathilde; Sennsfelder, Laetitia; Spondenkiewicz, Marta; Roy-Doray, Berenice; Amiel, Jeanne; Pingault, Veronique; Alessandri, Jean-Luc
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Expansion of the phenotype in ZFX neurodevelopmental disorder in a family
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deletevan der Tol, Linda; de Jong, Miranda; Alders, Marielle; Wilke, Martina; van der Schoot, Vyne; van Slegtenhorst, Marjon A.; Goverde, Anne
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Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis
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deleteMore, Ravi Prabhakar; Sumathipala, Dulika; Dolling, Helen; Downes, Kate; Bowdin, Sarah; Ahn, Joowook; Morris, Stephen; Rowitch, David H.
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