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Search results (43)

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Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Tenorio-Castano J. et al, (2026), Clin Genet

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

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

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Pagnamenta AT. et al, (2024), Am J Hum Genet, 111, 1140 - 1164

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

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS. et al, (2023), Genes (Basel), 14

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Lippincott MF. et al, (2022), Genet Med, 24, 2501 - 2515

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Tessadori F. et al, (2022), Am J Hum Genet, 109, 750 - 758

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

(2022), Eur J Hum Genet, 30, 3 - 87

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E. et al, (2022), J Med Genet, 59, 165 - 169

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.

Diaz-Gonzalez F. et al, (2022), Front Genet, 13

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Hyder Z. et al, (2021), Genet Med, 23, 2360 - 2368

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817

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