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Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2008
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6Christoph Globas, Sophie Tezenas du Montcel, Laslo Baliko, et al.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|July 24, 2022
Der p 23-specific IgE response throughout childhood and its association with allergic disease: A birth cohort studyLeandra Forchert, Ekaterina Potapova, Valentina Panetta, et al.European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.The Journal of Allergy and Clinical Immunology|October 28, 2011
Predictive value of food sensitization and filaggrin mutations in children with eczemaBirgit Filipiak-Pittroff, Christina Schnopp, Dietrich Berdel, et al.Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.Neuro-Oncology Advances|March 24, 2026
Clinical outcome of biomarker-guided therapies in adult neuro-oncology patients: An update from the Tübingen molecular tumor board cohortDavid Rieger, Hannes Becker, Bianca Walter, et al.European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.Pageof 67