Ron Hochstenbach
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Explore the profile of Ron Hochstenbach including associated specialties, affiliations and a list of published articles.
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1863
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Recent Articles
1.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, et al.
HGG Adv
. 2024 Nov;
6(1):100380.
PMID: 39501558
Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by...
2.
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, et al.
HGG Adv
. 2024 Apr;
5(3):100289.
PMID: 38571311
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated...
3.
Rooney K, van der Laan L, Trajkova S, Haghshenas S, Relator R, Lauffer P, et al.
Genet Med
. 2023 Apr;
25(8):100871.
PMID: 37120726
Purpose: HNRNPU haploinsufficiency is associated with developmental and epileptic encephalopathy 54. This neurodevelopmental disorder is characterized by developmental delay, intellectual disability, speech impairment, and early-onset epilepsy. We performed genome-wide DNA...
4.
Poot M, Hochstenbach R
Mol Syndromol
. 2021 Mar;
12(1):1-11.
PMID: 33776621
Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (e.g., 13, 14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA clusters and...
5.
Hochstenbach R, Liehr T, Hastings R
Eur J Hum Genet
. 2020 Dec;
29(4):541-552.
PMID: 33311710
Participation of clinical genetic laboratories in External Quality Assessment schemes (EQAs) is a powerful method to ascertain if any improvement or additional training is required in the diagnostic service. Here,...
6.
Middelkamp S, Vlaar J, Giltay J, Korzelius J, Besselink N, Boymans S, et al.
Genome Med
. 2019 Dec;
11(1):79.
PMID: 31801603
Background: Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods: We...
7.
Stolerman E, Francisco E, Stallworth J, Jones J, Monaghan K, Keller-Ramey J, et al.
Am J Med Genet A
. 2019 May;
179(7):1276-1286.
PMID: 31124279
Lysine-specific demethylase 6B (KDM6B) demethylates trimethylated lysine-27 on histone H3. The methylation and demethylation of histone proteins affects gene expression during development. Pathogenic alterations in histone lysine methylation and demethylation...
8.
Hochstenbach R, van Binsbergen E, Schuring-Blom H, Buijs A, van Amstel H
Eur J Med Genet
. 2018 Sep;
62(9):103543.
PMID: 30248410
Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield...
9.
Hochstenbach R, Elferink M, van Zon P, Lichtenbelt K, van Harssel J, Schuring-Blom H, et al.
Clin Case Rep
. 2018 May;
6(5):788-791.
PMID: 29744057
One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell-free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin...
10.
Hackstein J, Beck H, Hochstenbach R, Kremer H, Zacharias H
Rouxs Arch Dev Biol
. 2017 Mar;
199(5):251-280.
PMID: 28306111
We constructed balancer-chromosomes for the large autosomes ofDrosophila hydei and screened more than 16000 chromosomes for male sterile mutations in order to dissect spermatogenesis genetically. 365 mutants on the X...