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Nature|May 31, 2019
Growth dynamics in naturally progressing chronic lymphocytic leukaemiaMichaela Gruber, Ivana Bozic, Ignaty Leshchiner, et al.The Journal of Pediatrics|February 20, 2026
Procedural Outcomes of Minimally Invasive Surfactant Therapy (MIST): An International Matched Cohort StudyPatrick J Peebles, Joseph G Reiter, Paul J Wildenhain, et al.NPJ Precision Oncology|January 19, 2026
Validation of a methylation-based, tissue-free MRD assay in colorectal cancer patients from the GALAXY studyYoshiaki Nakamura, Johannes G Reiter, Prashanthi Natarajan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.Pageof 69