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American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.Global Change Biology|April 1, 2018
The response of soil solution chemistry in European forests to decreasing acid depositionJames Johnson, Elisabeth Graf Pannatier, Stefano Carnicelli, et al.Life Science Alliance|July 1, 2022
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutantsLaura Strohm, Zehan Hu, Yongwon Suk, et al.Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.American Journal of Human Genetics|June 19, 2012
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type VChristian Beetz, Thomas R Pieber, Nicole Hertel, et al.Cell Metabolism|August 3, 2017
Long-Term Cold Adaptation Does Not Require FGF21 or UCP1Susanne Keipert, Maria Kutschke, Mario Ost, et al.Neurology. Genetics|May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With EpilepsyMartin Krenn, Matias Wagner, Karin Trimmel, et al.Human Molecular Genetics|February 14, 2012
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann, Ling Lin, Barbara Schormair, et al.Human Molecular Genetics|February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disordersTheresa Brunet, Riccardo Berutti, Veronika Dill, et al.Pageof 11