Recent publications published by researchers at the MRC WIMM.
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.
Watts LM. et al, (2025), Clin Genet
The Power of Mouse Models in the Diagnostic Odyssey of Patients with Rare Congenital Anomalies
Twigg S., (2025), Mammalian Genome
BCL11B-related disease: a single phenotypic entity?
Vedovato-dos-Santos JH. et al, (2025), European Journal of Human Genetics
Editorial: Advances in craniosynostosis-Basic science to clinical practice.
Moazen M. and Twigg SRF., (2024), J Anat, 245, 813 - 814
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R. et al, (2024), HGG Adv, 5
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA. et al, (2024), Am J Hum Genet
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Pei Y. et al, (2024), Genes (Basel), 15
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM. et al, (2024), Eur J Hum Genet
Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis
Walton I. et al, (2024), Journal of Anatomy
Better translation via collaboration: The MRC National Mouse Genetics Network.
Sansom O. et al, (2024), Cell Genom, 4
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
BULLOCK A. et al, (2024), Journal of Medical Genetics
Characterising clinically relevant complex structural variants in craniosynostosis using long-range technologies
Pei Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 37 - 37
Novel mechanism of craniosynostosis associated with chromosome 4q21 duplication: modelling in mice and iPSCs
Korona D. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 533 - 533
SMAD4-associated Myhre-syndrome mutations are under positive selection in the male germline
Wood K. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 4 - 4
ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Watts L. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 73 - 74
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS. et al, (2023), Genet Med
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Vogiatzi A. et al, (2023), Int J Mol Sci, 24
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Tooze RS. et al, (2023), Genes, 14, 615 - 615
Food is medicine: pilot testing a 'Produce Prescription' program in Australia
Wu J. et al, (2023), ANNALS OF NUTRITION AND METABOLISM, 79, 721 - 721