Recent publications published by researchers at the MRC WIMM.
Not Apert syndrome: A critique of a recent case report by Pan and Yang
WILKIE A., (2025), American Journal of Medical Genetics, Part A
Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation
Saad R. et al, (2025), American Journal of Medical Genetics Part A
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.
Leong WY. et al, (2025), PLoS Genet, 21
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)
Retinoic Acid Regulates the Commitment of Osteoprogenitor Cells by Controlling the Transcription of DHRS3
Varshosaz P. et al, (2025), BIRTH DEFECTS RESEARCH, 117, S46 - S46
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
A Pfeiffer phenotype in association with the common Apert FGFR2 S252W mutation: A clinical report and likely molecular explanation
Saad R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 1536 - 1537
BCL11B-related disease: a single phenotypic entity?
Vedovato-dos-Santos JH. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 1559 - 1560
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
Introduction: Professor Gillian Morriss-Kay DSc
Iseki S. and Wilkie AOM., (2024), Journal of Anatomy