Emma Baple

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

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

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

I. Temple, A. Caliebe, D. Mackay, 2013, American journal of medical genetics. Part A.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

J. Crolla, I. Temple, D. Mackay, 2010, American journal of medical genetics. Part A.

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).

S. Ellard, D. Eccles, C. Turnbull, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service

S. Ellard, R. Ramakrishnan, B. Searle, 2022, NIHR open research.

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees

S. Baig, A. Crosby, B. Chioza, 2021, American journal of medical genetics. Part A.

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

A. B. Krøigård, L. Ousager, K. Brusgaard, 2016, Clinical dysmorphology.