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Genes|October 26, 2024
Reply to Battke et al. Comment on "Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 2024, 15, 136"Joohyun Park, Marc Sturm, Tobias B HaackPhysical Review. E, Statistical, Nonlinear, and Soft Matter Physics|October 13, 2007
Entropy of complex relevant components of Boolean networksPeter Krawitz, Ilya ShmulevichJournal of Cutaneous Pathology|October 21, 2021
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findingsKlaus Harzer, Stefanie Beck-Wödl, Tobias B HaackPhysical Review Letters|May 16, 2007
Basin entropy in Boolean network ensemblesPeter Krawitz, Ilya ShmulevichNeurogenetics|August 17, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 geneMaike Tomforde, Meike Steinbach, Tobias B Haack, et al.Frontiers in Neuroscience|November 28, 2024
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo modelsMarcel Brügel, Ann-Sophie Kiesel, Tobias B Haack, et al.NAR Genomics and Bioinformatics|February 12, 2024
Extending DeepTrio for sensitive detection of complex de novo mutation patternsFabian Brand, Jannis Guski, Peter KrawitzFrontiers in Molecular Medicine|August 1, 2024
Genetics in parkinson's disease: From better disease understanding to machine learning based precision medicineMohamed Aborageh, Peter Krawitz, Holger FröhlichClinical Genetics|March 20, 2019
Bain type of X-linked syndromic mental retardation in boysStefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.Molecular Genetics & Genomic Medicine|October 30, 2023
A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)Sarah Grosch, Martin Kehrer, Olaf Riess, et al.Pageof 38