Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, +34

The Lancet

Genetic MutationsMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum +5

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

Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, +18

Nature Communications

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

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, +27

Journal of Medical Genetics

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

Jasmin Beygo, Valentina Citro, Angela Sparago, +14

Human Molecular Genetics

Epigenetic germline mosaicism in infertile men

Sandra Laurentino, Jasmin Beygo, Verena Nordhoff, +6

Human Molecular Genetics

FertilityEpigenetic ChangeGeneticsDna MethylationDna Methylation Values +18

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

Jasmin Beygo, Karin Buiting, Simon Ramsden, +3

European Journal of Human Genetics

Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients

Denis A. Akkad, Sabine Hoffjan, Elisabeth Petrasch‐Parwez, +3

Journal of Autoimmunity

ImmunogeneticsAutoimmune DiseaseAllergyImmune Cell DevelopmentMedicine +9

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

Jasmin Beygo, Miriam Elbracht, Karel de Groot, +9

European Journal of Human Genetics

Hierarchical RegulationNatural SciencesGeneticsMolecular BiologyMolecular Imprinting +5

Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing

Elsa Leitão, Jasmin Beygo, Michael Zeschnigk, +4

Methods in molecular biology

Dna SequencingTargeted Deep BisulfiteEpigenetic ChangeGeneticsDna Methylation +6

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

Sümeyye Cöktü, Claudia Spix, Melanie Kaiser, +18

British Journal of Cancer