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ResearcherID: G-9321-2015

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Employment (4)

Radboud Universitair Medisch Centrum: Nijmegen, NL

2024-01-01 to present (Clinical genetics)
Employment
Source: Self-asserted source
Saskia Koene

Leiden University Medical Center: Leiden, NL

2019 to 2024-05-18 (Clinical Genetics)
Employment
Source: Self-asserted source
Saskia Koene

Radboudumc: Nijmegen, Gelderland, NL

2018 to 2019 (Clinical Genetics)
Employment
Source: Self-asserted source
Saskia Koene

Radboudumc: Nijmegen, Gelderland, NL

2016 to 2019 | Postdoc Mitochondrial Medicine (Paediatrics)
Employment
Source: Self-asserted source
Saskia Koene

Education and qualifications (4)

Leiden University Medical Center: Leiden, NL

2020 to present | Clinical geneticist in training (Clinical Genetics)
Education
Source: Self-asserted source
Saskia Koene

Radboudumc: Nijmegen, Gelderland, NL

2014 to 2016 | Clinical Pharmacologist (Clinical Pharmacology and Paediatrics)
Qualification
Source: Self-asserted source
Saskia Koene

Radboudumc: Nijmegen, Gelderland, NL

2010 to 2016 | PhD (Paediatrics)
Qualification
Source: Self-asserted source
Saskia Koene

Radboudumc: Nijmegen, Gelderland, NL

2003 to 2010 | Medical Doctor
Qualification
Source: Self-asserted source
Saskia Koene

Works (49)

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

Journal of Medical Genetics
2024-04 | Journal article
DOI: 10.1136/jmg-2023-109537
Contributors: Saskia Koene; Fabiënne Gwendolin Ropers; Jannelien Wieland; Tamara Rybak; Floor Wildschut; Dagmar Berghuis; Angela Morgan; Maria Pilar Trelles; Jeroen Ronald Scheepe; Regina Bökenkamp et al.
Source: check_circle
Crossref

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Molecular Syndromology
2023 | Journal article
DOI: 10.1159/000530256
Contributors: Lisca Florence Wurfbain; Inge Lucia Cox; Maria Francisca van Dooren; Augusta Maria Antonia Lachmeijer; Virginie Johanna Maria Verhoeven; Johanna Maria van Hagen; Malou Heijligers; Jolien Sietske Klein Wassink - Ruiter; Saskia Koene; Saskia Mariska Maas et al.
Source: check_circle
Crossref

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

European Journal of Pediatrics
2023-10-27 | Journal article
DOI: 10.1007/s00431-023-05279-4
Contributors: Michelle van Slobbe; Arie van Haeringen; Lisenka E. L. M. Vissers; Emilia K. Bijlsma; Julie W. Rutten; Manon Suerink; Esther A. R. Nibbeling; Claudia A. L. Ruivenkamp; Saskia Koene
Source: check_circle
Crossref

The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder

Disability and Rehabilitation
2023-07-03 | Journal article
DOI: 10.1080/09638288.2022.2087765
Contributors: Marieke Lindenschot; Saskia Koene; Melissa T. Nott; Maria W. G. Nijhuis-van der Sanden; Imelda J. M. de Groot; Esther M. J. Steultjens; Maud J. L. Graff
Source: check_circle
Crossref

Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges

Physical & Occupational Therapy In Pediatrics
2023-01-02 | Journal article
DOI: 10.1080/01942638.2022.2086024
Contributors: Marieke Lindenschot; Imelda J.M.de Groot; Maria W.G. Nijhuis-van der Sanden; Esther M.J. Steultjens; Maud J.L. Graff; Saskia Koene
Source: check_circle
Crossref

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

American Journal of Medical Genetics Part A
2022-12 | Journal article
DOI: 10.1002/ajmg.a.62929
Contributors: Saskia Koene; Floortje Klerx‐Melis; Arno Anne Willem Roest; Maarten Cornelis Kleijwegt; Marianne Bootsma; Monique C. Haak; Meike Heleen van Haeringen; Claudia Antoinette Laetitia Ruivenkamp; Esther Anne Rieky Nibbeling; Arie van Haeringen
Source: check_circle
Crossref

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

American Journal of Medical Genetics Part A
2022-05 | Journal article
DOI: 10.1002/ajmg.a.62669
Contributors: Saskia Koene; Jeroen Knijnenburg; Mariette J. V. Hoffer; Fleur Zwanenburg; Monique C. Haak; Heiko Locher; Edward S. A. van Beelen; Gijs W. E. Santen; Liselotte J. C. Rotteveel
Source: check_circle
Crossref

Insight into Performance of Daily Activities in Real Life of A Child with Limited Physical, Cognitive and Communication Abilities: A Case Report

Journal of Occupational Therapy, Schools, & Early Intervention
2022-04-03 | Journal article
DOI: 10.1080/19411243.2021.1941495
Contributors: Marieke Lindenschot; Imelda J.M. de Groot; Maria W.G. Nijhuis-van der Sanden; Esther M.J. Steultjens; Saskia Koene; Maud J.L. Graff
Source: check_circle
Crossref

DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults.

Blood
2021-11-17 | Journal article
DOI: 10.1182/blood.2021014052
PMID: 34788385
Source: Self-asserted source
Saskia Koene

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia open
2021-09-29 | Journal article
DOI: 10.1002/epi4.12534
PMID: 34379890
Source: Self-asserted source
Saskia Koene

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

BMC neurology
2021-08-12 | Journal article
DOI: 10.1186/s12883-021-02336-z
PMID: 34384384
PMC: PMC8357962
Source: Self-asserted source
Saskia Koene

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

American Journal of Medical Genetics Part A
2021-02 | Journal article
DOI: 10.1002/ajmg.a.61988
Contributors: Saskia Koene; Cacha M. P. C. D. Peeters‐Scholte; Jeroen Knijnenburg; Linda S. de Vries; Phebe N. Adama van Scheltema; Marije E. Meuwissen; Sylke J. Steggerda; Gijs W. E. Santen
Source: check_circle
Crossref

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

American journal of medical genetics. Part A
2021-01-31 | Journal article
DOI: 10.1002/ajmg.a.62102
PMID: 33522091
PMC: PMC8048530
Source: Self-asserted source
Saskia Koene

The Perspectives and Values of Children with a Mitochondrial Disorder with Regard to Everyday Activities

Journal of Developmental and Physical Disabilities
2020-06 | Journal article
DOI: 10.1007/s10882-019-09699-9
Contributors: Marieke Lindenschot; Esther M. J. Steultjens; Jana Zajec; Maria W. G. Nijhuis-van der Sanden; Saskia Koene; Imelda J. M. de Groot
Source: check_circle
Crossref

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

Journal of medical genetics
2020-05-21 | Journal article
DOI: 10.1136/jmedgenet-2019-106800
PMID: 32439810
Source: Self-asserted source
Saskia Koene

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Orphanet journal of rare diseases
2020-03-24 | Journal article
DOI: 10.1186/s13023-020-1342-8
PMID: 32209104
PMC: PMC7092429
Source: Self-asserted source
Saskia Koene

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

Mitochondrion
2019-04-20 | Journal article
DOI: 10.1016/j.mito.2019.04.005
PMID: 31014978
Source: Self-asserted source
Saskia Koene

Fear of disease progression in carriers of the m.3243A > G mutation.

Orphanet journal of rare diseases
2018-11-13 | Journal article
DOI: 10.1186/s13023-018-0951-y
PMID: 30424784
PMC: PMC6234600
Source: Self-asserted source
Saskia Koene

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.

Clinical pharmacology and therapeutics
2018-09-03 | Journal article
DOI: 10.1002/cpt.1197
PMID: 30058726
PMC: PMC6704357
Source: Self-asserted source
Saskia Koene

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Journal of inherited metabolic disease
2018-07-19 | Journal article
DOI: 10.1007/s10545-018-0229-5
PMID: 30027425
PMC: PMC6326961
Source: Self-asserted source
Saskia Koene
grade
Preferred source (of 2)‎

Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review.

Occupational therapy international
2018-06-06 | Journal article
DOI: 10.1155/2018/5716947
PMID: 29977174
PMC: PMC6011071
Source: Self-asserted source
Saskia Koene

Quantification of gait in children with mitochondrial disease.

Journal of inherited metabolic disease
2018-03-12 | Journal article
DOI: 10.1007/s10545-018-0148-5
PMID: 29532198
Source: Self-asserted source
Saskia Koene
grade
Preferred source (of 2)‎

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Orphanet Journal of Rare Diseases
2017-12 | Journal article
DOI: 10.1186/s13023-017-0644-y
Contributors: Rob Ramakers; Saskia Koene; Jan T Groothuis; Paul de Laat; Mirian CH Janssen; Jan Smeitink
Source: check_circle
Crossref

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.

Orphanet journal of rare diseases
2017-10-16 | Journal article
DOI: 10.1186/s13023-017-0715-0
PMID: 29037240
PMC: PMC5644106
Source: Self-asserted source
Saskia Koene

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Neuromuscular disorders : NMD
2017-09-08 | Journal article
DOI: 10.1016/j.nmd.2017.08.006
PMID: 29074296
PMC: PMC6094160
Source: Self-asserted source
Saskia Koene

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Journal of inherited metabolic disease
2017-03-16 | Journal article
DOI: 10.1007/s10545-017-0035-5
PMID: 28303425
PMC: PMC7783474
Source: Self-asserted source
Saskia Koene

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.

JIMD reports
2017-01-17 | Journal article
DOI: 10.1007/8904_2016_35
PMID: 28092092
PMC: PMC5680282
Source: Self-asserted source
Saskia Koene

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study.

Journal of inherited metabolic disease
2017-01-04 | Journal article
DOI: 10.1007/s10545-016-0001-7
PMID: 28054208
PMC: PMC5306433
Source: Self-asserted source
Saskia Koene

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

Mitochondrion
2016-11-16 | Journal article
DOI: 10.1016/j.mito.2016.11.008
PMID: 27865797
Source: Self-asserted source
Saskia Koene
grade
Preferred source (of 2)‎

Assisted 6-minute cycling test: An exploratory study in children.

Muscle & nerve
2016-06-13 | Journal article
DOI: 10.1002/mus.25021
PMID: 26718768
Source: Self-asserted source
Saskia Koene

International Paediatric Mitochondrial Disease Scale.

Journal of inherited metabolic disease
2016-06-09 | Journal article
DOI: 10.1007/s10545-016-9948-7
PMID: 27277220
PMC: PMC4987390
Source: Self-asserted source
Saskia Koene

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

EMBO molecular medicine
2016-04-01 | Journal article
DOI: 10.15252/emmm.201506131
PMID: 26951622
PMC: PMC4818752
Source: Self-asserted source
Saskia Koene

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

Orphanet journal of rare diseases
2016-03-18 | Journal article
DOI: 10.1186/s13023-016-0403-5
PMID: 26988355
PMC: PMC4797235
Source: Self-asserted source
Saskia Koene

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

JIMD reports
2015-05-13 | Journal article
DOI: 10.1007/8904_2015_436
PMID: 25967227
PMC: PMC4582022
Source: Self-asserted source
Saskia Koene

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Neurology
2014-06-06 | Journal article
DOI: 10.1212/wnl.0000000000000578
PMID: 24907231
Source: Self-asserted source
Saskia Koene

New treatments for mitochondrial disease-no time to drop our standards.

Nature reviews. Neurology
2013-07-02 | Journal article
DOI: 10.1038/nrneurol.2013.129
PMID: 23817350
PMC: PMC4967498
Source: Self-asserted source
Saskia Koene

Towards the harmonization of outcome measures in children with mitochondrial disorders.

Developmental medicine and child neurology
2013-03-12 | Journal article
DOI: 10.1111/dmcn.12119
PMID: 23489006
Source: Self-asserted source
Saskia Koene

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Mitochondrion
2012-11-17 | Journal article
DOI: 10.1016/j.mito.2012.11.002
PMID: 23164801
Source: Self-asserted source
Saskia Koene

Inheritance of the m.3243A>G mutation.

JIMD reports
2012-07-06 | Journal article
DOI: 10.1007/8904_2012_159
PMID: 23430519
PMC: PMC3565654
Source: Self-asserted source
Saskia Koene
grade
Preferred source (of 2)‎

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal of inherited metabolic disease
2012-05-30 | Journal article
DOI: 10.1007/s10545-012-9492-z
PMID: 22644603
PMC: PMC3432203
Source: Self-asserted source
Saskia Koene

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

Journal of inherited metabolic disease
2012-03-09 | Journal article
DOI: 10.1007/s10545-012-9465-2
PMID: 22403016
PMC: PMC3470685
Source: Self-asserted source
Saskia Koene

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases.

Neurobiology of disease
2012-03-09 | Journal article
DOI: 10.1016/j.nbd.2012.03.007
PMID: 22426394
Source: Self-asserted source
Saskia Koene

Mitochondrial medicine.

Journal of inherited metabolic disease
2011-04-01 | Journal article
DOI: 10.1007/s10545-011-9292-x
PMID: 21365464
PMC: PMC3063558
Source: Self-asserted source
Saskia Koene
grade
Preferred source (of 2)‎

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction.

Journal of inherited metabolic disease
2010-07-29 | Journal article
DOI: 10.1007/s10545-010-9162-y
PMID: 20668944
PMC: PMC3063543
Source: Self-asserted source
Saskia Koene

Depressive behaviour in children diagnosed with a mitochondrial disorder.

Mitochondrion
2010-05-31 | Journal article
DOI: 10.1016/j.mito.2010.05.011
PMID: 20573558
Source: Self-asserted source
Saskia Koene

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.

Journal of inherited metabolic disease
2010-01-27 | Journal article
DOI: 10.1007/s10545-009-9005-x
PMID: 20107904
Source: Self-asserted source
Saskia Koene

Mitochondrial medicine: entering the era of treatment.

Journal of internal medicine
2009-02-01 | Journal article
DOI: 10.1111/j.1365-2796.2008.02058.x
PMID: 19192036
Source: Self-asserted source
Saskia Koene

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.

Journal of affective disorders
2008-08-09 | Journal article
DOI: 10.1016/j.jad.2008.06.023
PMID: 18692904
Source: Self-asserted source
Saskia Koene

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

Clinical dysmorphology
2008-07-01 | Journal article
DOI: 10.1097/mcd.0b013e3282fe99c4
PMID: 18541968
Source: Self-asserted source
Saskia Koene
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