Buiting K, Groß S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B (2003) Epimutations in Prader-Willi and Angelman syndrome: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 72: 571-577
Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K (2003) Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cell cloning and identification of candidate downstream genes. Hum Mol Genet: 12: :2723-32
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Buiting K, Groß S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B (2003) Epimutations in Prader-Willi and Angelman syndrome: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 72: 571-577
Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K (2003) Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cell cloning and identification of candidate downstream genes. Hum Mol Genet: 12: :2723-32
Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Bernhard Horsthemke B, Buiting. K. (2004) SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet 114: 553-556
Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B (2004) Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet. 13:2547-55
Ludwig M, Katalinic A, Groß S, Sutcliffe A, Varon R, Horsthemke B (2005) Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet, 42:289-291
Horsthemke B, Ludwig M (2005) Assisted reproduction – the epigenetic perspective.
Human Reprod Update, 11:473-482
Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005) Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet: 116: 228-230
Zogel C, Böhringer S, Groß S, Varon R, Buiting K, Horsthemke B (2005) Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet 14: 752-758
Buiting K, Nazlican H, Galetzka D, Wawrzik M,Groβ S, Horsthemke B (2007) C15orf2 and a novel noncoding transcript from the Prader–Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89: 588-59
Ronan A, Buiting K, Dudding T (2008) Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. Am J Med Genet A. 146: 78-82.
Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting B (2008) A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet, 2008 Dec 10. [Epub ahead of print]
Buiting K, Kanber D, Martín-Subero JI, Lieb W, Terhal P, Albrecht B, Purmann S, Groß S, Lich C, Siebert R, Horsthemke B, Gillessen-Kaesbach G (2008) Clinical features of maternal uniparental disomy 14 are also present in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat,
29:1141-1146
Horsthemke B, Wagstaff J (2008) Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet, 146:2041-2052
Kanber D, Buiting K, Zeschnigk M, Ludwig M, Horsthemke B (2009) Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet, 17:22-29
Zeschnigk M, Martin M, Betzl G, Kalbe A, Sirsch C, Buiting K, Gross S, Fritzilas E, Frey B, Rahmann S, Horsthemke B (2009) Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals incomplete methylation of most X-chromosomal CpG islands in normal female blood DNA. Hum Mol Genet 18:1439-48
Wawrzik M, Spiess AN, Herrmann R, Buiting K, Horsthemke B (2009) Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 17:1463-1470
Kanber D, Berulava T, Ammerpohl O, Mitter D, Richter J, Siebert R, Horsthemke B, Lohmann D, Buiting K (2009) The human retinoblastoma gene is imprinted. PLoS Genet, 5(12):e1000790
Wawrzik M, Unmehopa UA, Swaab DF, van de Nes J, Buiting K, Horsthemke B (2010) The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection, Neurogenet, 11:153-61
