Recent publications published by researchers at the MRC WIMM.
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Journal article
Maroofian R. et al, (2024), HGG Adv
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal article
Tooze RS. et al, (2023), Genet Med
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Journal article
Tooze RS. et al, (2023), Genes, 14, 615 - 615
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Journal article
Tooze RS. et al, (2022), J Med Genet
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.
Journal article
Lippincott MF. et al, (2022), Genet Med
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Journal article
Tessadori F. et al, (2022), Am J Hum Genet
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.
Journal article
Diaz-Gonzalez F. et al, (2022), Front Genet, 13
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Conference paper
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Journal article
Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Journal article
van Woerden GM. et al, (2021), Hum Mutat
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Journal article
Calpena E. et al, (2021), J Med Genet
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal article
Calpena E. et al, (2020), Genet Med, 22
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal article
Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Journal article
Chatron N. et al, (2020)
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Journal article
Tolchin D. et al, (2020), Am J Hum Genet, 106, 830 - 845
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
Koelling N. et al, (2020), Bioinformatics, 36
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Journal article
Chatron N. et al, (2019), Hum Mutat, 40, 1993 - 2000
How to detect mobile retrocopies during routine genetic testing and manage pitfalls
Conference paper
Chatron N. et al, (2019), MOLECULAR CYTOGENETICS, 12