Tuula Rinne

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers et al. · Genetics in Medicine · 2016 · 194 citations · Full text

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Evelyn N. Kouwenhoven, Simon J. van Heeringen, Juan J. Tena et al. · PLoS Genetics · 2010 · 177 citations · Full text

Genetics, Shfm1 Locus, Genomic Mechanism +19

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Hans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk et al. · Nature Genetics · 2005 · 151 citations

Neurological Disorder, Medicine, Pathology +9

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany et al. · European Journal of Human Genetics · 2022 · 87 citations · Full text

Genetic Epidemiology, Diagnosis, Disease Gene Identification +21