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Endocrine|November 8, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
BMC Genomic Data|September 4, 2023
Gene-based burden scores identify rare variant associations for 28 blood biomarkersRana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, et al.
Bioinformatics (Oxford, England)|March 10, 2022
GenRisk: a tool for comprehensive genetic risk modelingRana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|September 6, 2023
Prevalence and determinants of subretinal drusenoid deposits in patients' first-degree relativesMatthias M Mauschitz, Benedikt J Hochbein, Hannah Klinkhammer, et al.
Neuropediatrics|October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory DiseaseCharlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
American Journal of Human Genetics|December 14, 2011
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayJohannes A Mayr, Peter Freisinger, Kurt Schlachter, et al.
International Journal of Molecular Sciences|February 26, 2022
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial VariabilityMilda Reith, Lena Zeltner, Karin Schäferhoff, et al.
Clinical Genetics|December 13, 2023
Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorderGul Nazmina, Amjad Khan, Jiuhong Jiang, et al.
Ophthalmic Genetics|July 27, 2026
Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophyMilda Reith, Katarina Stingl, Lasse Wolfram, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic ImplicationsElisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
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