B. Horsthemke

B. Horsthemke, M. Lindemann, H. Grosse-wilde, 1992, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays.

B. Horsthemke, D. Lohmann, M. Zeschnigk, 1999, Nucleic acids research.

Heterogeneous distribution of enkephalin-degrading peptidases between neuronal and glial cells.

B. Horsthemke, B. Hamprecht, K. Bauer, 1983, Biochemical and biophysical research communications.

Of wolves and men: the role of paternal child care in the evolution of genomic imprinting

B. Horsthemke, 2009, European Journal of Human Genetics.

Healthy ageing men have normal reproductive function but display germline-specific molecular changes

Sven Rahmann, Bernhard Horsthemke, Sven Berres, 2019, medRxiv.

The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis

M. Dugas, B. Horsthemke, E. Leitão, 2020, bioRxiv.

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

M. Cubellis, B. Horsthemke, J. Beygo, 2012, Human molecular genetics.

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

Bernhard Horsthemke, Shinji Saitoh, Stuart Schwartz, 1995, Nature Genetics.

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

B. Horsthemke, J. Beygo, K. Buiting, 2020, European Journal of Human Genetics.

The inheritance of epigenetic defects

B. Horsthemke, 2017, medizinische genetik.

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

B. Horsthemke, A. Barnicoat, K. Buiting, 1999, Human Genetics.

Mechanisms of imprint dysregulation

B. Horsthemke, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Genomic imprinting and imprinting defects in humans.

B. Horsthemke, K. Buiting, 2008, Advances in genetics.

Atypical Prader-Willi Syndrome

J. Conroy, B. Horsthemke, A. Laurie, 2006 .

Molecular Genetic Findings in Prader-Willi Syndrome

B. Horsthemke, K. Buiting, 2006 .

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

B. Horsthemke, D. Lohmann, W. Robinson, 1995, Human Genetics.

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

Stefan Boehringer, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human molecular genetics.

Disruption of the bipartite imprinting center in a family with Angelman syndrome.

M. Pembrey, S. Malcolm, B. Horsthemke, 2001, American journal of human genetics.

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

J. Walter, O. el-Maarri, C. Brannan, 2001, Nature Genetics.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.

B. Horsthemke, K. Buiting, B. Dittrich, 1999, Human molecular genetics.

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

D. J. Driscoll, T. Ohta, B. Horsthemke, 1999, American journal of human genetics.

Imprinting mutations on human chromosome 15

B. Horsthemke, K. Buiting, B. Dittrich, 1997, Human mutation.

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

W. Doerfler, B. Horsthemke, K. Buiting, 1997 .

Structure and function of the human chromosome 15 imprinting center

B. Horsthemke, 1997, Journal of cellular physiology.

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.

D. Ledbetter, B. Horsthemke, M. Lalande, 1993, Human molecular genetics.

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

D. J. Driscoll, N. Niikawa, S. Saitoh, 1993, Human molecular genetics.

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

B. Horsthemke, K. Buiting, S. Gross, 1993, Human molecular genetics.

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

I. Lerer, D. Abeliovich, B. Horsthemke, 1994, Human molecular genetics.

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

A. Reis, M. Anvret, B. Horsthemke, 1994, American journal of human genetics.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

Gene probes in diagnosis of familial hypercholesterolemia.

S. Humphries, B. Horsthemke, M. Seed, 1989, Arteriosclerosis.

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

D. Wieczorek, S. Böhringer, B. Horsthemke, 2006, Human molecular genetics.

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

R. Williamson, B. Horsthemke, U. Beisiegel, 1987, European journal of biochemistry.

Identification of deletions in the human low density lipoprotein receptor gene.

B. Horsthemke, S. Humphries, A. Dunning, 1987, Journal of medical genetics.

DNA deletions and DNA polymorphisms of the low density lipoprotein (LDL) receptor gene--their use in diagnosis.

A. Kessling, S. Humphries, B. Horsthemke, 1986, Verhandlungen der Deutschen Gesellschaft fur Innere Medizin.

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

B. Horsthemke, R. Nicholls, E. Rinchik, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Localization of surface peptidases

B. Horsthemke, H. Lentzen, K. Bauer, 1986 .

Evidence for correlations between BMI-associated SNPs and circRNAs

C. Dieterich, J. Hebebrand, A. Hinney, 2022, Scientific Reports.

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Stefan Boehringer, D. Wieczorek, B. Horsthemke, 2007, Human Genetics.

Characterization of a microdissection library from human chromosome region 3p14.

D. Smith, B. Horsthemke, W. Bardenheuer, 1994, Genomics.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

S. Bens, R. Siebert, J. Richter, 2016, Epigenomics.

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.

B. Horsthemke, E. Passarge, G. Senger, 1990, Genomics.

A critical appraisal of clinical epigenetics

B. Horsthemke, 2022, Clinical epigenetics.

Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and functional genomics.

Construction and characterization of band-specific DNA libraries

B. Horsthemke, G. Senger, U. Claussen, 1990, Human Genetics.

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

D. Ledbetter, A. C. Chinault, N. Niikawa, 1992 .

Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization.

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2000, Cancer genetics and cytogenetics.

Chromosomal aberrations defining uveal melanoma of poor prognosis

N. Bornfeld, B. Horsthemke, R. Becher, 1992, The Lancet.

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

A. V. D. van den Ouweland, B. Horsthemke, G. Gillessen‐kaesbach, 1996, Journal of medical genetics.

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11

P. Scambler, R. Williamson, J. Burn, 2004, Mammalian Genome.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

D. Horn, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human Genetics.

Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.

T. Shows, B. Horsthemke, B. Zabel, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

B. Horsthemke, D. Lohmann, I. Szijan, 1995, Journal of medical genetics.

Genomic organization and promoter structure of the human EXT1 gene.

M. Wagner, L. Schomburg, B. Horsthemke, 1997, Genomics.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1.

B. Horsthemke, J. Gromoll, F. Tüttelmann, 2009, International journal of andrology.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

R. Hochstenbach, D. Wieczorek, J. Giltay, 2009, European Journal of Human Genetics.

A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15.

B. Horsthemke, K. Buiting, S. Kaya-Westerloh, 1996, Cytogenetics and cell genetics.

The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder.

A. Holland, B. Horsthemke, L. Curfs, 2009, Journal of intellectual disability research : JIDR.

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation

B. Horsthemke, D. Lohmann, A. Weinhäusel, 2011, BMC Cancer.

Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing.

L. Klein-Hitpass, S. Rahmann, B. Horsthemke, 2018, Methods in molecular biology.

Heritable germline epimutations in humans

B. Horsthemke, 2007, Nature Genetics.

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

B. Horsthemke, D. Lohmann, L. Steenpass, 2013, PloS one.

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary

A. Jauch, T. Cremer, J. Wienberg, 2005, Chromosome Research.

Mechanism of i(6p) formation in retinoblastoma tumor cells.

B. Horsthemke, E. Passarge, R. Becher, 1989, Cancer genetics and cytogenetics.

Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A study of 27 families

D. Strumberg, B. Horsthemke, B. Hauffa, 1992, European Journal of Pediatrics.

Analysis of Solid Tumours with Recurrent Breakpoints in Chromosome Region 12q13–15 by Fluorescence In Situ Hybridization Using a Microclone Library

J. Bullerdiek, E. Schoenmakers, B. Horsthemke, 1994 .

Comparative chromosome band mapping in primates byin situ suppression hybridization of band specific DNA microlibraries

T. Cremer, J. Wienberg, C. Lengauer, 1991 .

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

S. Gallati, P. Byers, B. Horsthemke, 2004, European Journal of Human Genetics.

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

B. Horsthemke, A. Spiess, K. Buiting, 2009, European Journal of Human Genetics.

Pre- and Postovulatory Aging of Murine Oocytes Affect the Transcript Level and Poly(A) Tail Length of Maternal Effect Genes

B. Horsthemke, R. Grümmer, H. Demond, 2014, PloS one.

Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals.

D. Rosskopf, K. Jöckel, P. Forster, 1999, Journal of the American Society of Nephrology : JASN.

Association of a human G-protein β3 subunit variant with hypertension

Arya M. Sharma, D. Rosskopf, K. Jakobs, 1998, Nature Genetics.

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Bai-Lin Wu, K. Sperling, V. Lip, 2002, American journal of human genetics.

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

R. Siebert, D. Wieczorek, B. Horsthemke, 2016, Epigenetics.

Long-term treatment effects in patients with bilateral retinoblastoma: ocular and mid-facial findings

B. Horsthemke, W. Sauerwein, W. Havers, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

R. Spritz, B. Horsthemke, R. Nicholls, 1993, Nature.

Subcellular distribution of particle-bound neutral peptidases capable of hydrolyzing gonadoliberin, thyroliberin, enkephalin and substance P.

B. Horsthemke, R. Wattiaux, S. Wattiaux‐De Coninck, 1984, European journal of biochemistry.

Degradation of LH-RH

B. Horsthemke, K. Bauer, 1984 .

Epigenetic germline mosaicism in infertile men.

B. Horsthemke, J. Beygo, S. Kliesch, 2015, Human molecular genetics.

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance

B. Horsthemke, B. Albrecht, G. Kleinau, 2010, European Journal of Human Genetics.

Rapid detection of trisomy 21 by quantitative PCR

R. Fahsold, B. Horsthemke, F. Eggeling, 1993, Human Genetics.

Microdissection of banded human chromosomes

Bernhard Horsthemke, Uwe Claussen, B. Horsthemke, 1990, Human Genetics.

Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes

M. Dugas, B. Horsthemke, G. Meyer zu Hörste, 2021, Clinical Epigenetics.

Chymotryptic-like hydrolysis of luliberin (LH-RF) by an adenohypophyseal enzyme of high molecular weight.

B. Horsthemke, K. Bauer, 1981, Biochemical and biophysical research communications.

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3‐qter

K. Zerres, T. Eggermann, B. Horsthemke, 2005, Clinical genetics.

Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

B. Horsthemke, A. Katalinic, A. Sutcliffe, 2005, Journal of Medical Genetics.

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

B. Lorenz, B. Horsthemke, D. Lohmann, 1997, American journal of human genetics.

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

B. Horsthemke, D. Lohmann, E. Passarge, 1996, American journal of human genetics.

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.

A. Hüttenhofer, M. Kiefmann, B. Horsthemke, 2001, Human molecular genetics.

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

L. Klein-Hitpass, B. Horsthemke, G. Gillessen‐kaesbach, 2003, Human molecular genetics.

Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei.

Thomas Cremer, Bernhard Horsthemke, Christoph Cremer, 2008, Differentiation; research in biological diversity.

Maintenance of imprinting and nuclear architecture in cycling cells

T. Cremer, I. Solovei, B. Horsthemke, 2007, Proceedings of the National Academy of Sciences.

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

R. Paro, B. Horsthemke, F. Lyko, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families

C. Broeckhoven, H. Backhovens, A. Wehnert, 1987, Nature.

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human Genetics.

A germ cell‐specific ageing pattern in otherwise healthy men

S. Rahmann, B. Horsthemke, Christopher Schröder, 2020, Aging cell.

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Bernhard Horsthemke, Jan Freudenberg, Elisabeth Mangold, 2009, Nature Genetics.

No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder or anorexia nervosa

H. Kessler, J. Hebebrand, A. Hinney, 2020, medRxiv.

The Origin of the RB1 Imprint

B. Horsthemke, D. Lohmann, C. Roos, 2013, PloS one.

Imprinting of RB1 (the new kid on the block).

B. Horsthemke, D. Lohmann, K. Buiting, 2010, Briefings in functional genomics.

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome

D. Horn, B. Horsthemke, K. Buiting, 2005, Human Genetics.

Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models

D. J. Driscoll, C. Williams, P. Rogan, 1992 .

Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1.

T. Möröy, B. Horsthemke, F. Kaiser, 2003, Human molecular genetics.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

R. Hennekam, A. Rosenthal, G. Glöckner, 2000, Nature Genetics.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.

L. Stubbs, B. Horsthemke, Dabney K. Johnson, 1999, Human molecular genetics.

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

D. Ledbetter, J. Sutcliffe, A. Beaudet, 1993, Genomics.

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

N. Niikawa, A. Chinault, S. Saitoh, 1992, Human molecular genetics.

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

D. J. Driscoll, S. Saitoh, P. Rogan, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.

W. Doerfler, B. Horsthemke, B. Schmitz, 1997, Human molecular genetics.

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

M. Muenke, B. Horsthemke, P. Meinecke, 1999, Human Genetics.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

N. Niikawa, K. Devriendt, R. Hennekam, 2001, American journal of human genetics.

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

P. Stankiewicz, J. Lupski, T. Liehr, 2006, American journal of medical genetics. Part A.

A DNA library from an individual Beta patellaris chromosome conferring nematode resistance obtained by microdissection of meiotic metaphase chromosomes

R. G. Herrmann, R. Herrmann, C. Jung, 1992, Plant Molecular Biology.

Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization.

M R Speicher, A. Jauch, T. Cremer, 1994, Cancer research.

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

B. Horsthemke, A. J. van der Lely, E. V. van Rossum, 2021, Genes.

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

O. el-Maarri, B. Horsthemke, G. Gillessen‐kaesbach, 2003, American journal of human genetics.

Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells

B. Horsthemke, Christian Grosser, Katrin Grothaus, 2015, Epigenetics.

Hormone-induced delayed ovulation affects early embryonic development.

B. Horsthemke, Ann-Kathrin Bittner, E. Winterhager, 2011, Fertility and sterility.

Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice

L. Stubbs, X. Ren, B. Horsthemke, 1999, Mammalian Genome.

An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity

T. Keil, S. Lau, Young-Ae Lee, 2012, PLoS genetics.

Imprinting defects on human chromosome 15

B. Horsthemke, K. Buiting, B. Horsthemke, 2006, Cytogenetic and Genome Research.

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

H. Höfler, B. Horsthemke, D. Lohmann, 1992, Human Genetics.

Spectrum of small length germline mutations in the RB1 gene.

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human molecular genetics.

Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma.

K. Bartz-Schmidt, N. Bornfeld, B. Horsthemke, 2001, Cancer research.

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

R. Siebert, J. Richter, O. Ammerpohl, 2013, PloS one.

A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus.

D. Housman, T. Shows, K. Call, 1991, Genomics.

Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level.

K. Mrasek, T. Liehr, B. Horsthemke, 2008, International journal of molecular medicine.

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

G. Mortier, D. Wieczorek, R. Kooy, 2016, European Journal of Human Genetics.

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

R. Siebert, T. Strom, B. Horsthemke, 2016, European Journal of Human Genetics.

Epimutations in human disease.

B. Horsthemke, 2006, Current topics in microbiology and immunology.

Assisted reproduction: the epigenetic perspective.

B. Horsthemke, M. Ludwig, 2005, Human reproduction update.

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

T. Eggermann, B. Horsthemke, J. Beygo, 2018, Epigenetics.

The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions

B. Horsthemke, H. Lüdecke, L. Tranebjærg, 1997, Human Genetics.

Mechanisms of imprinting of the Prader–Willi/Angelman region

B. Horsthemke, J. Wagstaff, 2008, American journal of medical genetics. Part A.

C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.

B. Horsthemke, D. Galetzka, K. Buiting, 2007, Genomics.

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

B. Horsthemke, D. Lohmann, E. Passarge, 1994, Human Genetics.

In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVF.

G. Wennemuth, B. Horsthemke, R. Grümmer, 2019, Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft.

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome

B. Horsthemke, E. Passarge, G. Senger, 1989, Human Genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Genetics and cytogenetics of retinoblastoma.

B. Horsthemke, 1992, Cancer genetics and cytogenetics.

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

R. Siebert, W. Lieb, B. Horsthemke, 2008, Human Mutation.

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

D. Wieczorek, K. Rostásy, B. Horsthemke, 2018, Cytogenetic and Genome Research.

Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes

B. Horsthemke, R. Grümmer, H. Demond, 2016, PloS one.

Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes

B. Horsthemke, T. Fröhlich, G. Arnold, 2015, Human reproduction.

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

H. Rehder, B. Horsthemke, D. Lohmann, 2001, Human Genetics.

Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region.

W. Bodmer, B. Horsthemke, E. Solomon, 1991, Genomics.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

A. Poustka, A. Winterpacht, S. Saitoh, 1996, Nature Genetics.

Microdissection of the fragile X region.

K. Davies, B. Horsthemke, G. Senger, 1990, American journal of human genetics.

Genetic Aspects of Familial Ménière's Disease

H. Hennies, B. Horsthemke, K. Jahnke, 2011, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.

C. Bloomfield, K. Grzeschik, T. Möröy, 2007, Blood.

with acute myeloid leukemia ) is associated GFI1 ( Growth Factor Independence 1 A variant allele of

K. Grzeschik, T. Möröy, M. Slovak, 2010 .

The adult phenotype of Schaaf-Yang syndrome

C. Schaaf, C. Stumpel, B. Horsthemke, 2020, Orphanet Journal of Rare Diseases.

Microdissection of GTG-banded chromosomes and PCR-mediated cloning

H. Hennies, A. Reis, B. Horsthemke, 1993 .

New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22.

R. Fahsold, B. Horsthemke, G. Senger, 1991, Genomics.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

A. Hüttenhofer, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

Epigenetic dynamics of monocyte-to-macrophage differentiation

Stefan Wallner, Thomas Lengauer, Sven Rahmann, 2016, Epigenetics & Chromatin.

A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

C. Petit, R. Slim, B. Horsthemke, 1993, Genomics.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

S. Schwartz, K. Tsuchiya, J. Conroy, 1997, American journal of human genetics.

Corrigendum: Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

S. Schwartz, S. Saitoh, B. Horsthemke, 1995, Nature Genetics.

The mechanisms of genomic imprinting.

R. Ohlsson, B. Horsthemke, Azim Surani, 1999, Results and problems in cell differentiation.

In Brief: Genomic imprinting and imprinting diseases

B. Horsthemke, 2014, The Journal of pathology.

Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse

L. Klein-Hitpass, B. Horsthemke, S. Wallner, 2014, Genome biology and evolution.

Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

B. Horsthemke, C. Jones, D. Rita, 1997, American journal of human genetics.

A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

W. Doerfler, B. Horsthemke, K. Buiting, 1997, European journal of human genetics : EJHG.

The RING Finger Protein RNF4, a Co-regulator of Transcription, Interacts with the TRPS1 Transcription Factor*

Bernhard Horsthemke, T. Möröy, B. Horsthemke, 2003, Journal of Biological Chemistry.

No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma.

B. Horsthemke, D. Lohmann, 1999, European journal of cancer.

A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus

B. Horsthemke, D. Lohmann, M. Zeschnigk, 1999, Journal of Medical Genetics.

Next-Generation-Sequencing in der Epigenetik

B. Horsthemke, M. Zeschnigk, 2019, medizinische genetik.

Novel strategies to cure imprinting disorders

B. Horsthemke, U. Zechner, 2020, Medizinische Genetik.

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

C. Brannan, B. Horsthemke, Tao Yang, 2000, Nature Genetics.

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15

S. Böhringer, B. Horsthemke, K. Buiting, 2006, European Journal of Human Genetics.

Imprinting-mutation mechanisms in Prader-Willi syndrome.

D. J. Driscoll, T. Ohta, S. Saitoh, 1999, American journal of human genetics.

Rhythm is not enough

B. Horsthemke, 2007, Nature Genetics.

Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15.

B. Horsthemke, K. Buiting, S. Gross, 2000, Genomics.

Preovulatory oocyte aging in mice affects fertilization rate and embryonic genome activation

B. Horsthemke, H. Demond, R. Gruemmer, 2017, bioRxiv.

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma.

B. Horsthemke, E. Passarge, V. Greger, 1988, Journal of medical genetics.

The Imprinted NPAP1 Gene in the Prader–Willi Syndrome Region Belongs to a POM121-Related Family of Retrogenes

A. Meyer, Nathalie Feiner, B. Horsthemke, 2014, Genome biology and evolution.

Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

B. Horsthemke, E. Passarge, V. Greger, 1987, Human Genetics.

Construction of a chromosome 15-specific linking library and identification of potential gene sequences.

B. Horsthemke, E. Passarge, K. Buiting, 1988, Genomics.

Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

B. Horsthemke, E. Passarge, A. Bornemann, 1990, Cancer.

Genomic gains on chromosome 1q in retinoblastoma: Consequences on gene expression and association with clinical manifestation

Stephanie Schneider, B. Horsthemke, D. Lohmann, 2005, International journal of cancer.

Genetics, Expression and Localization of the Amyloid Precursor of Alzheimer’s Disease

C. Masters, G. Multhaup, K. Beyreuther, 1988 .

Measurement of local chromatin compaction by spectral precision distance microscopy

Thomas Cremer, Bernhard Horsthemke, Michael Hausmann, 2000, European Conference on Biomedical Optics.

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

B. Horsthemke, G. Gillessen‐kaesbach, H. Thiele, 1999, European Journal of Human Genetics.

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia

A. Kessling, R. Williamson, V. Wynn, 2004, Human Genetics.

A study of DNA polymorphisms around the human apolipoprotein Al gene in hyperlipidaemic and normal individuals

A. Kessling, S. Humphries, B. Horsthemke, 1985, Clinical genetics.

A COMMON DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE AND ITS USE IN DIAGNOSIS

S. Humphries, R. Williamson, V. Wynn, 1985, The Lancet.

Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome

B. Horsthemke, D. Bartholdi, A. Schinzel, 2005, European Journal of Human Genetics.

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.

B. Horsthemke, E. Mladenov, K. Buiting, 2012, Human molecular genetics.

Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis

P. Rosenstiel, D. Foell, J. Walter, 2021, Nature Communications.

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.

B. Horsthemke, B. Albrecht, G. Gillessen‐kaesbach, 1995, American journal of medical genetics.

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13

B. Horsthemke, S. Gross, B. Dittrich, 1994, Human Genetics.

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

B. Horsthemke, G. Gillessen‐kaesbach, L. Maldergem, 2001, European Journal of Human Genetics.

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

D. J. Driscoll, S. Schwartz, N. Niikawa, 1997, American journal of medical genetics.

PW71 methylation test for Prader-Willi and Angelman syndromes.

B. Horsthemke, K. Buiting, B. Dittrich, 1996, American journal of medical genetics.

Molecular analysis and predictive testing in retinoblastoma.

B. Horsthemke, D. Lohmann, E. Passarge, 1995, Ophthalmic genetics.

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.

B. Horsthemke, E. Passarge, V. Greger, 1991, American journal of medical genetics.

Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families

B. Gallie, A. Goddard, B. Horsthemke, 1990, Clinical genetics.

EARLY DIAGNOSIS IN HEREDITARY RETINOBLASTOMA BY DETECTION OF MOLECULAR DELETIONS AT GENE LOCUS

B. Horsthemke, E. Passarge, V. Greger, 1987, The Lancet.

Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma.

B. Horsthemke, B. Albrecht, E. Passarge, 1992, American journal of medical genetics.

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene.

D. Yandell, B. Horsthemke, E. Passarge, 1992, American journal of human genetics.

Coronary Artery Calcification and Its Relationship to Validated Genetic Variants for Diabetes Mellitus Assessed in the Heinz Nixdorf Recall Cohort

Thomas W. Mühleisen, T. Mühleisen, S. Moebus, 2010, Arteriosclerosis, thrombosis, and vascular biology.

Deciphering the evolutionary origin of the RB1 imprint

B. Horsthemke, D. Lohmann, C. Roos, 2013, Epigenetics & Chromatin.

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Wiro J Niessen, Aad van der Lugt, Fedde van der Lijn, 2011, European Journal of Human Genetics.

Automated syndrome detection in a set of clinical facial photographs

Rolf P Wurtz, Bernhard Horsthemke, Dagmar Wieczorek, 2011, American journal of medical genetics. Part A.

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.

Tobias Vollmar, Baerbel Maus, Rolf P Wurtz, 2008, European journal of medical genetics.

Computer-based recognition of dysmorphic faces

Christoph von der Malsburg, Bernhard Horsthemke, Dagmar Wieczorek, 2003, European Journal of Human Genetics.

Loss of CpG island immunity to DNA methylation induced by mutation

A. Bird, B. Horsthemke, 2023, Epigenetics & Chromatin.

A critical view on transgenerational epigenetic inheritance in humans

B. Horsthemke, 2018, Nature Communications.

Problems in detecting mosaic DNA methylation in Angelman syndrome

B. Janssen, B. Dworniczak, B. Horsthemke, 2003, European Journal of Human Genetics.

Application oflinkage analysis togenetic counselling infamilies withhereditary retinoblastoma

B. Horsthemke, E. Passarge, V. Greger, 1988 .

retinoblastoma . families with hereditary to genetic counselling in Application of linkage analysis

B. Horsthemke, E. Passarge, V. Greger, 2022 .

Human TRH-degrading ectoenzyme cDNA cloning, functional expression, genomic structure and chromosomal assignment.

L. Schomburg, B. Horsthemke, G. Prescher, 1999, European journal of biochemistry.

wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data

Christopher Schröder, Bernhard Horsthemke, Sven Rahmann, 2019, BMC Bioinformatics.

Degradation of substance P by neurones and glial cells.

B. Horsthemke, K. Bauer, M. Schulz, 1984, Biochemical and biophysical research communications.

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

B. Horsthemke, J. Beygo, K. Buiting, 2020, European Journal of Human Genetics.

PCR-mediated cloning of HpaII tiny fragments from microdissected human chromosomes.

B. Horsthemke, U. Claussen, H. Lüdecke, 1992, PCR methods and applications.

Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients

B. Horsthemke, J. Nes, M. Zeschnigk, 2014, Neuroscience Letters.

RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

B. Horsthemke, D. Lohmann, M. Klutz, 1999, American journal of human genetics.

Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function

M. Nöthen, K. Jöckel, S. Heilmann-Heimbach, 2017, Epigenetics & Chromatin.

Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment

B. Obermayer, A. Prentice, K. Jöckel, 2023, Science Translational Medicine.

Isolation of DNA from the centromere of human chromosome 7 by microdissection

E. Green, R. Williamson, B. Horsthemke, 1997, Chromosome Research.

No evidence for sequences structurally related to the RB1 gene in the human genome

C. Belka, B. Horsthemke, B. Zabel, 1991, Human Genetics.

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma.

T. Dryja, Y. Ohnishi, T. Sakai, 1997, Cancer genetics and cytogenetics.

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

E. Haan, M. Wagner, M. Frydman, 1995, Human molecular genetics.

Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and Functional Genomics.

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

A. Latos-Bieleńska, N. Tommerup, M. Wagner, 1991, American journal of human genetics.

Clinical phenotypes of MAGEL2 mutations and deletions

S. Bens, B. Horsthemke, J. Beygo, 2014, Orphanet Journal of Rare Diseases.

Nutrition, sirtuins and renin-angiotensin system: Cross talk in metabolic regulation

C. Gieger, W. Rathmann, J. Pankow, 2015 .

DNA Polymorphisms of the Low Density Lipoprotein (LDL) Receptor Gene

A. Kessling, S. Humphries, R. Williamson, 1986 .

Amplikyzer: Automated methylation analysis of amplicons from bisulfite flowgram sequencing

Bernhard Horsthemke, Marcel Martin, Sven Rahmann, 2013 .

Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms

C. Gieger, J. Pankow, E. Zeggini, 2014, Cell.

Epigenetic germline mosaicism in infertile men.

B. Horsthemke, J. Beygo, S. Kliesch, 2015, Human molecular genetics.

In Brief: Genomic imprinting and imprinting diseases

B. Horsthemke, 2014, The Journal of pathology.

Genomic imprinting and imprinting defects in humans.

B. Horsthemke, K. Buiting, 2008, Advances in genetics.

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation

B. Horsthemke, D. Lohmann, A. Weinhäusel, 2011, BMC Cancer.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.

No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder

H. Kessler, J. Hebebrand, A. Hinney, 2022, Scientific Reports.