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BMC Genomics|January 30, 2013
Development of a high density 600K SNP genotyping array for chickenAndreas Kranis, Almas A Gheyas, Clarissa Boschiero, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.American Journal of Human Genetics|October 11, 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika B Hartig, Arcangela Iuso, Tobias Haack, et al.Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.Nature Genetics|January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseCornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.American Journal of Human Genetics|December 24, 2013
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationSabrina Dusi, Lorella Valletta, Tobias B Haack, et al.Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.Circulation|February 8, 2013
Calmodulin mutations associated with recurrent cardiac arrest in infantsLia Crotti, Christopher N Johnson, Elisabeth Graf, et al.Pageof 29