Author

Jiddeke M. van de Kamp

Amsterdam University Medical CentersORCID 0000-0001-6696-6009Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2

Frequent Co-Authors

Gijs W.E. SanteniD· 2 shared Irene ValenzuelaiD· 2 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Alexander J.M. DingemansiD· 1 shared Alexander P.A. StegmanniD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amelle ShillingtoniD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gijs W.E. SantenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 14, 2022

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen…·Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

28 citations

humanstatistical model

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