Karin Buiting

Essen University Hospital — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index10.6kcitations168works0.02yr avg
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Research Topics

Genetic Syndromes and Imprinting(137), Epigenetics and DNA Methylation(106), Prenatal Screening and Diagnostics(66), Genomic variations and chromosomal abnormalities(34), RNA modifications and cancer(13)

Publications164 total

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Frontiers in Medicine·2022· 6 citedOpen Access
Cover
Molecular Genetics & Genomic Medicine·2021Open Access
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Molecular Genetics & Genomic Medicine·2021· 5 citedOpen Access
Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
European Journal of Human Genetics·2020· 17 citedOpen Access
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
European Journal of Human Genetics·2019· 68 citedOpen Access
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A
Journal of the Endocrine Society·2019· 5 citedOpen Access
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
European Journal of Human Genetics·2019· 14 citedOpen Access
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
Epigenetics·2018· 15 citedOpen Access
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Journal of Medical Genetics·2018· 164 citedOpen Access
Molecular and clinical studies in 8 patients with Temple syndrome
Clinical Genetics·2018· 23 citedOpen Access
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására
Orvosi Hetilap·2018· 2 citedOpen Access
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására = Rapid first-tier genetic diagnosis in patients with Prader–Willi syndrome
2018
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· 4 cited
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
Molecular Genetics & Genomic Medicine·2017· 24 citedOpen Access
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· 43 citedOpen Access
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature
American Journal of Medical Genetics Part A·2017· 27 cited
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Epigenetics·2016· 111 citedOpen Access
Angelman syndrome — insights into a rare neurogenetic disorder
Nature Reviews Neurology·2016· 389 cited
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
The American Journal of Human Genetics·2016· 115 citedOpen Access
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
European Journal of Human Genetics·2016· 62 citedOpen Access
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Frequent Co-authors

Bernhard Horsthemke(28), Christina Lich(9), Robert D. Nicholls(7), Deniz Kanber(7), Bärbel Dittrich(6), Gabriele Gillessen‐Kaesbach(6), Jasmin Beygo(6), Thomas Eggermann(6), Shinji Saitoh(5), Stephanie Groß(5), Michael Zeschnigk(5), Daniel J. Driscoll(4), Matthias Begemann(4), Deborah Mackay(4), Camilynn I. Brannan(3), Charles A. Williams(3), Peter K. Rogan(3), Lukas Soellner(3), Gerhard Binder(3), Walter Doerfler(3)