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Search results (123)

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Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosis

TWIGG S., (2026), Genetics in Medicine

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Pei Y. et al, (2025), Genome Med, 17

The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.

Funato N. and Twigg SRF., (2025), J Dent Res, 104, 1385 - 1394

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

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

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, 111, 1953 - 1969

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

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