Iris Boesten

Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome

Mike Gerards, Rick Kamps, Jo van Oevelen et al. · Brain · 2013 · 93 citations · Full text

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

Auke B.C. Otten, Tom E. J. Theunissen, Josien G. Derhaag et al. · Cell Reports · 2016 · 73 citations · Full text

Biology, Mtdna Bottleneck, Dna Sequencing +12

Novel pathogenic <i><scp>SLC25A46</scp></i> splice‐site mutation causes an optic atrophy spectrum disorder

Minh Nguyen, Iris Boesten, Debby M.E.I. Hellebrekers et al. · Clinical Genetics · 2016 · 43 citations · Full text

Genetics, Slc25a46 Gene, Molecular Biology +16

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Rick Kamps, Radek Szklarczyk, Tom E. J. Theunissen et al. · European Journal of Human Genetics · 2018 · 30 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +13

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Minh Nguyen, Iris Boesten, Debby M.E.I. Hellebrekers et al. · European Journal of Human Genetics · 2015 · 25 citations · Full text

Pathogenic Cwf19l1 Variants, Neurodegenerative Diseases, Mendelian Disorder +9