Concepedia

Esther Nibbeling

EN

Statistics

Publications

15

Citations

791

H-Index

14

Active since

2009

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

University Medical Center Groningen

University of Groningen

Leiden University Medical Center

Esther Nibbeling is an author at Radboud University Medical Center specializing in genetics, life sciences, and genetic disorders.

ORCID

Publications per year

2009–2023

15

Publications

15

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans et al. · Brain · 2017 · 123 citations · Full text

, , +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 · 118 citations

, , +17

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

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 111 citations · Full text

, , +9

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 · 110 citations · Full text

, , +14

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 · 61 citations · Full text

, , +17

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