Hanka Venselaar
Overview
Explore the profile of Hanka Venselaar including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
120
Citations
3890
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Tans R, Glendorf T, van Herwaarden A, Venselaar H, van Rijswijck D, Wevers R, et al.
BMJ Open Diabetes Res Care
. 2024 Dec;
12(6.
PMID: 39706672
Introduction: Maturity-onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM) are the most prevalent causes of monogenic diabetes. MODY is an autosomal dominant condition with onset in childhood...
2.
den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko K, Abe-Hatano C, et al.
J Med Genet
. 2024 Sep;
61(11):1062-1067.
PMID: 39327041
-associated syndrome (SAS) is caused by pathogenic variants in , which encodes an evolutionarily conserved transcription factor. Despite the broad range of phenotypic manifestations and variable severity related to this...
3.
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1605-1625.
PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
4.
van der Made C, Kersten S, Chorin O, Engelhardt K, Ramakrishnan G, Griffin H, et al.
Am J Hum Genet
. 2024 Mar;
111(4):791-804.
PMID: 38503300
Mutations in proteasome β-subunits or their chaperone and regulatory proteins are associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied six unrelated infants with three de novo heterozygous missense variants in...
5.
Verdoodt D, van Wijk E, Broekman S, Venselaar H, Aben F, Sels L, et al.
Hear Res
. 2024 Jan;
442:108947.
PMID: 38218018
DFNA9 is a dominantly inherited form of adult-onset progressive hearing impairment caused by mutations in the COCH gene. COCH encodes cochlin, a crucial extracellular matrix protein. We established a genomically...
6.
Boerrigter M, Te Morsche R, Venselaar H, Pastoors N, Geerts A, Hoorens A, et al.
Genes (Basel)
. 2023 Aug;
14(8).
PMID: 37628703
Protein-truncating variants in α-1,3-glucosyltransferase () are a risk factor for a mild cystic kidney disease phenotype. The association between these variants and liver cysts is limited. We aim to identify...
7.
Schellens R, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, et al.
Mol Ther Nucleic Acids
. 2023 Jun;
32:980-994.
PMID: 37313440
Loss-of-function mutations in are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of exon 13 as a promising treatment paradigm for -associated...
8.
Wolf C, Venselaar H, Spoelder M, Beurmanjer H, Schellekens A, Homberg J
Life (Basel)
. 2023 Apr;
13(4).
PMID: 37109455
The neurotransmitter γ-hydroxybutyric acid (GHB) is suggested to be involved in neuronal energy homeostasis processes, but the substance is also used as a recreational drug and as a prescription medication...
9.
Wiel L, Hampstead J, Venselaar H, Vissers L, Brunner H, Pfundt R, et al.
Am J Hum Genet
. 2022 Dec;
110(1):92-104.
PMID: 36563679
Variant interpretation remains a major challenge in medical genetics. We developed Meta-Domain HotSpot (MDHS) to identify mutational hotspots across homologous protein domains. We applied MDHS to a dataset of 45,221...
10.
Blok L, Verseput J, Rots D, Venselaar H, Innes A, Stumpel C, et al.
HGG Adv
. 2022 Nov;
4(1):100157.
PMID: 36408368
WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect...