Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.
Watts LM. et al, (2025), Clin Genet, 108, 479 - 485
The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.
Twigg SRF. et al, (2025), Mamm Genome, 36, 354 - 362
BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos JH. et al, (2025), Eur J Hum Genet, 33, 451 - 460
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
Editorial: Advances in craniosynostosis-Basic science to clinical practice.
Moazen M. and Twigg SRF., (2024), J Anat, 245, 813 - 814
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
Better translation via collaboration: The MRC National Mouse Genetics Network.
Sansom O. et al, (2024), Cell Genom, 4
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, 25
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze RS. et al, (2023), J Med Genet, 60, 712 - 716