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C. Ockeloen · SciRah

Researcher profile · Semantic Scholar

C. Ockeloen

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C. Ockeloen — researcher profile on SciRah

h-index: 27
Works: 90
Citations: 2,767

Most-cited papers

HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY
M. Kempers, R. Kuiper, C. Ockeloen, Pierre O. Chappuis +42 more
2010The Lancet Oncology271 citations Open access
Semantic Scholar
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
H. Stessman, M. Willemsen, Michaela Fenckova, O. Penn +47 more
2016American Journal of Human Genetics159 citations Open access
Semantic Scholar
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
A. van Dijck, A. T. Vulto-van Silfhout, E. Cappuyns, I. M. van der Werf +99 more
2018Biological Psychiatry150 citations Open access
Semantic Scholar
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
D. Koolen, R. Pfundt, K. Linda, G. Beunders +45 more
2015European Journal of Human Genetics143 citations Open access
Semantic Scholar
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
E. A. Croonen, W. Nillesen, K. Stuurman, G. Oudesluijs +10 more
2013European Journal of Human Genetics116 citations Open access
Semantic Scholar
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
J. Schuurs-Hoeijmakers, A. T. Vulto-van Silfhout, L. Vissers, I. van de Vondervoort +27 more
2013Journal of Medical Genetics104 citations Open access
Semantic Scholar
Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial.
S. Lau, K. Gerhold, K. Zimmermann, C. Ockeloen +10 more
2012Journal of Allergy and Clinical Immunology101 citations
Semantic Scholar
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
C. Ockeloen, M. Willemsen, S. de Munnik, B. V. van Bon +20 more
2014European Journal of Human Genetics99 citations Open access
Semantic Scholar
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
M. Hempel, K. Cremer, C. Ockeloen, K. Lichtenbelt +17 more
2015American Journal of Human Genetics89 citations Open access
Semantic Scholar
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
E. Klopocki, Silke Lohan, S. Doelken, S. Stricker +19 more
2011Journal of Medical Genetics88 citations
Semantic Scholar
Tooth agenesis and orofacial clefting: genetic brothers in arms?
M. Phan, F. Conte, K. D. Khandelwal, C. Ockeloen +6 more
2016Human Genetics69 citations Open access
Semantic Scholar
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
C. Ockeloen, K. D. Khandelwal, K. Dreesen, K. Ludwig +38 more
2016Genetics in Medicine69 citations Open access
Semantic Scholar
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
S. Wortmann, M. Oud, M. Alders, K. Coene +17 more
2022Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
D. Schepers, Alexander J. Doyle, Gretchen L. Oswald, E. Sparks +25 more
2014European Journal of Human Genetics57 citations Open access
Semantic Scholar
Congenital myopathy caused by a novel missense mutation in the CFL2 gene
C. Ockeloen, H. Gilhuis, R. Pfundt, E. Kamsteeg +7 more
2012Neuromuscular Disorders57 citations Open access
Semantic Scholar
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
A. Dingemans, M. Hinne, Kim M. G. Truijen, L. Goltstein +29 more
2023Nature Genetics52 citations Open access
Semantic Scholar
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
P. Ostrowski, Anna Zachariou, C. Loveday, A. Beleza-Meireles +31 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics49 citations
Semantic Scholar
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities
K. Vermeulen, Anneke de Boer, Joost G. E. Janzing, D. Koolen +9 more
2017American Journal of Medical Genetics. Part A48 citations Open access
Semantic Scholar
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
G. Mirzaa, Jessica X. Chong, A. Piton, B. Popp +72 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
Variability in dentofacial phenotypes in four families with WNT10A mutations
Christian P Vink, C. Ockeloen, Sietske ten Kate, D. Koolen +5 more
2014European Journal of Human Genetics40 citations Open access
Semantic Scholar
Phenotype Delineation of ZNF462 related syndrome
P. Kruszka, Tommy Hu, Sungkook Hong, R. Signer +28 more
2019American Journal of Medical Genetics. Part A38 citations Open access
Semantic Scholar
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
J. Wincent, D. L. Bruno, B. V. van Bon, A. Bremer +19 more
2011Molecular Syndromology38 citations Open access
Semantic Scholar
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
N. Reynaert, C. Ockeloen, L. Sävendahl, D. Beckers +8 more
2015Hormone Research in Paediatrics36 citations
Semantic Scholar
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
S. Jansen, I. M. van der Werf, A. Innes, A. Afenjar +47 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
N. Bramswig, C. Ockeloen, J. Czeschik, A. V. van Essen +8 more
2015Human Genetics29 citations Open access
Semantic Scholar
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
E. Palmer, M. Pusch, A. Picollo, C. Forwood +95 more
2022Molecular Psychiatry28 citations Open access
Semantic Scholar
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
D. Rots, S. Choufani, V. Faundes, A. Dingemans +100 more
2024American Journal of Human Genetics27 citations Open access
Semantic Scholar
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
J. van der Spek, J. den Hoed, Lot Snijders Blok, A. Dingemans +42 more
2022Genetics in Medicine27 citations Open access
Semantic Scholar
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
S. Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, Jessica Bos +22 more
2024Circulation Genomic and Precision Medicine26 citations Open access
Semantic Scholar
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani, S. Albaba, D. A. Carere, M. J. Guillen Sacoto +50 more
2021American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
K. Knapp, D. Jenkins, Rosie Sullivan, F. L. Harms +9 more
2021European Journal of Human Genetics26 citations Open access
Semantic Scholar
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome
H. Feberwee, Ilse Feenstra, S. Oberoi, I. Sama +8 more
2014Clinical Genetics26 citations
Semantic Scholar
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
D. Rots, Arianne Bouman, Ayumi Yamada, M. Levy +88 more
2024American Journal of Human Genetics25 citations Open access
Semantic Scholar
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Maria W A Teunissen, E. Lewerissa, E. V. van Hugte, Shan Wang +27 more
2023Human Molecular Genetics25 citations Open access
Semantic Scholar
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
D. Amor, Sarah E. M. Stephenson, M. Mustapha, M. Mensah +26 more
2019American Journal of Human Genetics25 citations Open access
Semantic Scholar
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Elke de Boer, C. Ockeloen, R. A. Kampen, J. Hampstead +46 more
2021medRxiv24 citations Open access
Semantic Scholar
Exploring the behavioral and cognitive phenotype of KBG syndrome
L. V. van Dongen, E. Wingbermühle, W. M. van der Veld, K. Vermeulen +4 more
2019Genes, Brain and Behavior18 citations Open access
Semantic Scholar
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, S. Caraffi, Gianluca Contrò, Lara Valeri +61 more
2023Journal of Medical Genetics17 citations Open access
Semantic Scholar
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, D. Koolen, C. Ockeloen +7 more
2022American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1
N. Voermans, C. Erasmus, C. Ockeloen, B. V. van Engelen +1 more
2015European Journal of Ophthalmology17 citations
Semantic Scholar
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, F. Jansen, C. Ockeloen, M. van Kempen +16 more
2023Epilepsia Open15 citations Open access
Semantic Scholar
Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.
T. de Nijs, J. Albuisson, C. Ockeloen, A. Legrand +3 more
2016International Journal of Cardiology14 citations Open access
Semantic Scholar
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Rebecca S. Tooze, K. A. Miller, Sigrid M. A. Swagemakers, E. Calpena +20 more
2023Genetics in Medicine13 citations Open access
Semantic Scholar
From man to fly – convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes
Benjamin Harich, M. Klein, C. Ockeloen, M. van der Voet +4 more
2019Journal of Child Psychology and Psychiatry and Allied Disciplines13 citations Open access
Semantic Scholar
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
J. Goos, Sigrid M. A. Swagemakers, S. Twigg, M. V. van Dooren +15 more
2017European Journal of Human Genetics13 citations Open access
Semantic Scholar
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
Milou G. P. Kennis, D. Rots, A. Bouman, C. Ockeloen +24 more
2025European Journal of Human Genetics12 citations Open access
Semantic Scholar
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
A. Dingemans, S. Jansen, J. van Reeuwijk, N. de Leeuw +14 more
2024Nature Medicine12 citations Open access
Semantic Scholar
Natural history of adults with KBG syndrome: a physician-reported experience.
A. Bayat, H. Grimes, Elke de Boer, M. K. Herlin +31 more
2024Genetics in Medicine12 citations Open access
Semantic Scholar
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
L. V. van Dongen, E. Wingbermühle, Wouter Oomens, A. Bos-Roubos +3 more
2017Frontiers in Behavioral Neuroscience11 citations Open access
Semantic Scholar

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