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Search results (466)

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Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndrome.

Cairns BJ. et al, (2026), Eur J Hum Genet

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Edoh E. et al, (2026), Genet Med

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

Watts LM. et al, (2026), Genet Med

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

Molecular Genetics and Pathophysiology

Wilkie AOM., (2026), 53 - 81

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

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)

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Ansari M. et al, (2025), Hum Mutat, 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

Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus

Calpena E. et al, (2025), EUROPEAN JOURNAL OF HUMAN GENETICS, 33, 89 - 90

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

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