Recent publications published by researchers at the MRC WIMM.
Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.
Saad R. et al, (2026), Am J Med Genet A, 200, 215 - 222
Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang.
Wilkie AOM., (2026), Am J Med Genet A, 200, 266 - 269
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), Eur J Hum Genet, 33, 451 - 460
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome
Leong WY. et al, (2025)
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Hashimoto AS. et al, (2025), Genet Med Open, 3
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), Hum Mutat, 2025
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
Walton IS. et al, (2024), J Anat, 245, 874 - 878
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, 111, 1953 - 1969
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, 32, 864 - 870
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Miller KA. et al, (2024), J Med Genet, 61, 490 - 501
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
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