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

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

Louise E Docherty, Steven Ndugwa Kabwama, Anna Lehmann, +9

Diabetologia

Diabetes EpidemiologyDiabetesGenetic EpidemiologyPediatricsGenotype–phenotype Correlation +8

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

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

Claire Turner, Deborah Mackay, Jonathan L A Callaway, +14

European Journal of Human Genetics

ChromatinMethylation ChangeDevelopmental BiologyMedicineGenetics +9

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, +8

Journal of Medical Genetics

Transient Neonatal Diabetes, <i>ZFP57</i>, and Hypomethylation of Multiple Imprinted Loci

Susanne E. Boonen, Deborah Mackay, Johanne M D Hahnemann, +17

Diabetes Care

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

Rebecca Poole, Louise E Docherty, Abeer Al Sayegh, +8

American Journal of Medical Genetics Part A

An atypical case of hypomethylation at multiple imprinted loci

Emma L. Baple, Rebecca L Poole, Sahar Mansour, +5

European Journal of Human Genetics

Genetic DisorderMultiple Imprinted LociGeneticsEpigenetic ChangeReproductive Biology +2

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes

Louise E Docherty, Rebecca Poole, Christopher Mattocks, +3

Diabetologia

Genetic DeterminantDevelopmental BiologyGenetic DisorderFurther RefinementGenetics +8

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

Faisal I. Rezwan, Louise E Docherty, Rebecca Poole, +5

Clinical Epigenetics