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BMC Genomics|January 16, 2019
GOPHER: Generator Of Probes for capture Hi-C Experiments at high ResolutionPeter Hansen, Salaheddine Ali, Hannah Blau, et al.Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.Genetics|August 13, 2016
Navigating the Phenotype Frontier: The Monarch InitiativeJulie A McMurry, Sebastian Köhler, Nicole L Washington, et al.Bioinformatics (Oxford, England)|January 20, 2021
PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontologyLing Luo, Shankai Yan, Po-Ting Lai, et al.American Journal of Medical Genetics. Part A|October 22, 2014
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literatureNadja Ehmke, Nima Parvaneh, Peter Krawitz, et al.Plos Genetics|May 23, 2009
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitSeval Türkmen, Gao Guo, Masoud Garshasbi, et al.Schizophrenia Research|June 19, 2009
Evidence that better outcome of psychosis in women is reversed with increasing age of onset: a population-based 5-year follow-up studySebastian Köhler, Margriet van der Werf, Brian Hart, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 23, 2025
Public HealthSusanne Roehr, Felix Georg Wittmann, Melanie Luppa, et al.Nutrients|April 12, 2022
A Scoping Literature Review of the Relation between Nutrition and ASD Symptoms in ChildrenInge van der Wurff, Anke Oenema, Dennis de Ruijter, et al.Geroscience|March 20, 2026
The role of modifiable risk factors on the cerebral myelin content and cognition: findings from The Maastricht StudyGerhard S Drenthen, Walter H Backes, Sebastian Köhler, et al.Pageof 58