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.
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
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
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.
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.
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
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 programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
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.
Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM. et al, (2021), Hum Mutat
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E. et al, (2021), J Med Genet
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med, 22
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D. et al, (2020), Am J Hum Genet, 106, 830 - 845
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N. et al, (2020), Bioinformatics, 36
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Chatron N. et al, (2019), Hum Mutat, 40, 1993 - 2000