Author details

Full Name

Bernhard Horsthemke

Affiliation

ORCID

Career Start Year

1980

Papers

288

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37170330	Loss of CpG island immunity to DNA methylation induced by mutation.		2023
37467315	Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment.	Sci Transl Med	2023
36323681	Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.	Nature Communications	2022
35902960	A critical appraisal of clinical epigenetics.	Clinical Epigenetics	2022
35879369	Evidence for correlations between BMI-associated SNPs and circRNAs.	Sci Rep	2022
34419158	Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes.	Clinical Epigenetics	2021
34200226	The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous Variant; Bio-Molecular Analysis and Review of the Literature.	Genes	2021
34131132	Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis.	Nat Commun	2021
32951333	A germ cell-specific ageing pattern in otherwise healthy men.	Aging Cell	2020
32375885	The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.	Clinical Epigenetics	2020
32021933	A human somatic cell culture system for modelling gene silencing by transcriptional interference.	Heliyon	2020
32357829	wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data.	BMC Bioinformatics	2020
31610252	In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVF.		2020
32152487	Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.	European Journal of Human Genetics	2020
33076953	The adult phenotype of Schaaf-Yang syndrome.	Orphanet Journal of Rare Diseases	2020
31658463	Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.	Cytogenetic and Genome Research	2019
29524145	Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing.	Methods in Molecular Biology	2018
30061690	A critical view on transgenerational epigenetic inheritance in humans.	Nature Communications	2018
30016768	Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue.	Cytogenetic and Genome Research	2018
30227764	The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.	Epigenetics	2018
29307221	[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].	Orvosi Hetilap	2018
28747224	Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.	Epigenetics Chromatin	2017
28635951	New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.	European Journal of Human Genetics	2017
27611906	Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes.	PLoS ONE	2016
26890210	Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.	Epigenetics	2016
26839037	A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.	European Journal of Human Genetics	2016
27323310	Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.	Epigenomics	2016
27406249	Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.	Eur J Hum Genet	2016
27478504	Epigenetic dynamics of monocyte-to-macrophage differentiation.	Epigenetics Chromatin	2016
26577303	Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes.	Human Reproduction	2016
27615419	Angelman syndrome - insights into a rare neurogenetic disorder.	Nature Reviews Neurology	2016
24896151	Clinical utility gene card for: Angelman Syndrome.	Eur J Hum Genet	2015
25336341	Epigenetic germline mosaicism in infertile men.	Human Molecular Genetics	2015
25723394	N6-adenosine methylation in MiRNAs.	PLoS ONE	2015
26186463	Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells.	Epigenetics	2015
26323243	Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.	Nat Commun	2015
24602981	Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients.	Neuroscience Letters	2014
25405460	Classification and visualization based on derived image features: application to genetic syndromes.	PLoS ONE	2014
25271735	Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes.	PLoS ONE	2014
25434003	Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.	Am J Hum Genet	2014
24395592	In brief: genomic imprinting and imprinting diseases.	Journal of Pathology	2014
24439387	Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.	Cell	2014
24482533	The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.	Genome Biology and Evolution	2014
24721835	A familial disorder of altered DNA-methylation.	J Med Genet	2014
24661356	Clinical phenotypes of MAGEL2 mutations and deletions.	Orphanet Journal of Rare Diseases	2014
24923327	Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse.	Genome Biology and Evolution	2014
24736734	Clinical utility gene card for: Prader-Willi Syndrome.	European Journal of Human Genetics	2014
23118352	The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.	Human Molecular Genetics	2013
22872099	FTO levels affect RNA modification and the transcriptome.	Eur J Hum Genet	2013
24019952	Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.	PLoS One	2013