Recent publications published by researchers at the MRC WIMM.
BCL11B-related disease: a single phenotypic entity?
Vedovato-dos-Santos JH. et al, (2025), European Journal of Human Genetics
RAB23loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome
Leong WY. et al, (2025)
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Ansari M. et al, (2025), Human Mutation, 2025
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
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Luyckx I. et al, (2024), J Med Genet, 61, 363 - 368
Population screening requires robust evidence-genomics is no exception.
Turnbull C. et al, (2024), Lancet, 403, 583 - 586
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
BULLOCK A. et al, (2024), Journal of Medical Genetics
Introduction: Professor Gillian Morriss-Kay DSc
Iseki S. and Wilkie AOM., (2024), Journal of Anatomy
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
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100,000 Genomes Project
Moore R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 600 - 601
ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Watts L. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 73 - 74
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR. et al, (2023), J Med Genet, 60, 1235 - 1244
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