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Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
International Journal of Radiation Oncology, Biology, Physics|October 12, 2014
Comparison and consensus guidelines for delineation of clinical target volume for CT- and MR-based brachytherapy in locally advanced cervical cancerAkila N Viswanathan, Beth Erickson, David K Gaffney, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science (New York, N.Y.)|July 11, 2009
Discovery of swine as a host for the Reston ebolavirusRoger W Barrette, Samia A Metwally, Jessica M Rowland, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 27, 2021
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouseCaroline A Biagosch, Silvia Vidali, Michael Faerberboeck, 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.
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