K. Buiting

发表

Angelman syndrome — insights into a rare neurogenetic disorder

Charles A. Williams, B. Horsthemke, K. Buiting, 2016, Nature Reviews Neurology.

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.

A. Hüttenhofer, M. Kiefmann, J. Bachellerie, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.

U. Pannicke, K. Schwarz, W. Friedrich, 2008, Blood.

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

A. Winterpacht, B. Horsthemke, B. Zabel, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

B. Horsthemke, Y. Ji, R. Nicholls, 1998, Cytogenetic and Genome Research.

The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13

E. Wahle, B. Horsthemke, K. Buiting, 1999, Cytogenetic and Genome Research.

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.

Sven Rahmann, Epameinondas Fritzilas, Bernhard Horsthemke, 2009, Human molecular genetics.

Methylation analysis of the PWS/AS region does not support an enhancer-competition model

W. Doerfler, A. Schumacher, B. Horsthemke, 1998, Nature Genetics.

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

H. Knoblauch, B. Horsthemke, W. Robinson, 1992, Human Genetics.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

Deciphering the evolutionary origin of the RB1 imprint

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

Imprinting in Prader–Willi and Angelman syndromes

B. Horsthemke, K. Buiting, 2005 .

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

R. Siebert, J. Richter, O. Ammerpohl, 2013, PLoS ONE.

A familial disorder of altered DNA-methylation

S. Bens, R. Siebert, B. Korn, 2014, Journal of Medical Genetics.

The Human Retinoblastoma Gene Is Imprinted

R. Siebert, J. Richter, D. Mitter, 2009, PLoS genetics.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

Identification of novel exons 3' to the human SNRPN gene.

B. Horsthemke, S. Endele, K. Buiting, 1997, Genomics.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

B. Horsthemke, L. Brueton, P. Kroisel, 2000, Clinical genetics.

The imprinting box of the Prader-Willi/Angelman syndrome domain

A. Razin, H. Cedar, R. Mostoslavsky, 2000, Nature Genetics.

The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15.

B. Horsthemke, D. Lohmann, K. Buiting, 1997, Cytogenetics and cell genetics.

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

K. Sperling, A. Reis, B. Horsthemke, 1997, American journal of human genetics.

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

A. Offiah, M. Irving, S. Mohammed, 2010, American journal of medical genetics. Part A.

Low frequency of imprinting defects in ICSI children born small for gestational age

B. Horsthemke, K. Buiting, M. Zeschnigk, 2009, European Journal of Human Genetics.

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

T. Eggermann, G. Binder, B. Horsthemke, 2008, European Journal of Human Genetics.

Use of multiplex ligation‐dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome

T. Eggermann, N. Schoenherr, M. Ranke, 2007, Clinical genetics.

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A

O. Hiort, C. Grasemann, K. Buiting, 2019, Journal of the Endocrine Society.

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.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, J. Beygo, S. Ramsden, 2019, European Journal of Human Genetics.

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

C. Cytrynbaum, R. Weksberg, Charles A. Williams, 2015, American journal of medical genetics. Part A.

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.

Correspondenceguidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010 .

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC Medical Genetics.

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

A. Ronan, K. Buiting, T. Dudding, 2008, American journal of medical genetics. Part A.

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 .

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 .

A familial deletion in the Prader‐Willi syndrome region including the imprinting control region

T. Meitinger, S. Schuffenhauer, K. Buiting, 1996, Human mutation.

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.

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.

Silver‐Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

R. Siebert, M. Baudis, T. Eggermann, 2011, Clinical genetics.

Slow progression of a small Wilms' tumor.

H. Bolz, T. Simon, M. Feldkötter, 2010, Klinische Padiatrie.

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Z. Tümer, J. D. den Dunnen, T. Eggermann, 2018, Epigenetics.

Evidence for anticipation in Beckwith–Wiedemann syndrome

O. Bruland, G. Houge, J. Beygo, 2013, European Journal of Human Genetics.

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

A. Green, T. Eggermann, R. Heller, 2014, European Journal of Human Genetics.

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.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother?

C. Shaw-Smith, A. Coffey, E. Howard, 2007, American journal of medical genetics. Part A.

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 .

Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection.

K. Buiting, S. Spetalen, K. Ørstavik, 2003, American journal of human genetics.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

J. Clayton-Smith, B. Kamien, T. Dudding-Byth, 2017, American journal of medical genetics. Part A.

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.

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

S. Bens, R. Siebert, T. Eggermann, 2014, Journal of Molecular Medicine.

Clinical utility gene card for: Silver–Russell syndrome

I. Temple, T. Eggermann, K. Buiting, 2011, European Journal of Human Genetics.

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

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

Malignant Melanoma and Wiedemann-Beckwith Syndrome in Childhood

A. Hauschild, F. Egberts, R. Siebert, 2010, Klinische Padiatrie.

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.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

T. Meitinger, V. Tasic, B. Tönshoff, 2022, Frontiers in Medicine.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

R. Siebert, S. Mehta, T. Eggermann, 2018, Journal of Medical 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.

Mosaicism and uniparental disomy in prenatal diagnosis.

T. Eggermann, K. Buiting, D. Kotzot, 2015, Trends in molecular medicine.

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

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

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

J. Beygo, A. Saâd, K. Buiting, 2021, Molecular genetics & genomic medicine.

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

K. Buiting, P. Pérez-Vera, Samuel Gómez, 2014, Molecular Cytogenetics.

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.

Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).

J. Gault, C. Breese, R. Freedman, 1998, Genomics.

Epigenetic germline mosaicism in infertile men.

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

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy

D. Wieczorek, D. Schindler, C. Roll, 2016, Clinical dysmorphology.

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 and Clinical Aspects of Angelman Syndrome

K. Buiting, A. Dagli, C. A. Williams, 2011, Molecular Syndromology.

Prader–Willi syndrome and Angelman syndrome

K. Buiting, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

G. Mortier, R. Sandford, Bernhard Steiner, 2008, Nature 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.

Frequency and characterization of DNA methylation defects in children born SGA

S. Bens, R. Siebert, J. Richter, 2012, European Journal of Human Genetics.

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.

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

C. Windpassinger, A. Langmann, E. Petek, 2003, Clinical genetics.

Imprinting defects on human chromosome 15

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

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

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

Multilocus methylation defects in imprinting disorders

T. Eggermann, D. Mackay, K. Buiting, 2015, Biomolecular concepts.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

R. Weksberg, Z. Tümer, P. Lapunzina, 2016, European Journal of Human Genetics.

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

D. Mitter, D. Wieczorek, U. Mau-Holzmann, 2006, American journal of medical genetics. Part A.

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.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, 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.

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

S. Bens, C. Kanaka-Gantenbein, C. Sofocleous, 2015, BMC Medical Genetics.

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features

T. Eggermann, G. Binder, B. Albrecht, 2012, Clinical genetics.

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

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

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

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.

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

A. Sharp, S. Antonarakis, S. Gimelli, 2010, Human molecular genetics.

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.

Ac ce pt ed M an us cr ip t 1 Mosaicism and uniparental disomy in prenatal diagnosis

T. Eggermann, K. Buiting, D. Kotzot, 2014 .

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

K. Buiting, P. Pérez-Vera, Samuel Gómez, 2014, Molecular Cytogenetics.

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.

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

S. Bens, R. Siebert, O. Ammerpohl, 2015, Epigenomics.

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.

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.

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.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.

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.

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.

Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

D. Lohmann, J. Bode, K. Buiting, 2004, Journal of Medical Genetics.

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.

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

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

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.

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

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

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

T. Eggermann, B. Albrecht, J. Beygo, 2017, Molecular genetics & genomic medicine.

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

S. Bens, R. Siebert, T. Eggermann, 2014, Journal of Molecular Medicine.

The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.

I. Lerer, D. Abeliovich, K. Buiting, 2001, American 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.

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.

Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR.

Soma Das, G. Raca, K. Buiting, 2004, Genetic testing.

Deciphering the evolutionary origin of the RB1 imprint

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

Problems in detecting mosaic DNA methylation in Angelman syndrome

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

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, European Journal of Human Genetics.

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

K. Grzeschik, G. Gillessen‐kaesbach, Y. Hellenbroich, 2007, European journal of medical genetics.

Microdissection and Molecular Analysis of Proximal 15q

D. Schlessinger, J. Knoll, M. Lalande, 1992 .

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC medical genetics.

Prader-Willi-Syndrom und Angelman-Syndrom

B. Albrecht, K. Buiting, Beate Albrecht, 2010 .

Clinical phenotypes of MAGEL2 mutations and deletions

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

Amplikyzer: Automated methylation analysis of amplicons from bisulfite flowgram sequencing

Bernhard Horsthemke, Marcel Martin, Sven Rahmann, 2013 .

Slow Progression of a Small Wilms’ Tumor

H. Bolz, M. Feldkötter, K. Buiting, 2010, Klinische Padiatrie.

Epigenetic germline mosaicism in infertile men.

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

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

S. Ramsden, K. Buiting, J. Clayton-Smith, 2010, BMC Medical Genetics.

Genomic imprinting and imprinting defects in humans.

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