Search results (466)
« Back to PublicationsLong-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
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