Esther Nibbeling

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans et al. · Brain · 2017 · 121 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +17

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain et al. · Human Molecular Genetics · 2009 · 117 citations

Metabolic Syndrome, Insulin Signaling, Genetic Disorder +15

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V

Marleen Forkink, Ganesh R. Manjeri, Dania C. Liemburg-Apers et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2014 · 106 citations · Full text

Mitochondrial Hyperpolarization, Signal Transduction, Biochemistry +8

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 105 citations · Full text

Pathogenic Kat6a Variants, Kat6a Syndrome, Genetics +6

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema et al. · Genetics in Medicine · 2019 · 59 citations · Full text

Newborn Screening, Routine Care, Pediatrics +12