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
A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra.
Journal article
Wu Y. et al, (2020), J Genet Genomics
Neurodevelopmental, cognitive and psychosocial outcomes for individuals with pathogenic variants in the TCF12 gene and associated craniosynostosis: a multicentre retrospective study
Journal article
WILKIE A. et al, (2020), Journal of Craniofacial Surgery
Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.
Journal article
Kilcoyne S. et al, (2020), J Craniofac Surg
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)
Whole-genome sequencing of patients with rare diseases in a national health system.
Journal article
Turro E. et al, (2020), Nature, 583, 96 - 102
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
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
Journal article
TWIGG S. et al, (2020), Bone Research
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Journal article
Babbs C. et al, (2020), J Med Genet, 57, 414 - 421
Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.
Journal article
Dupré S. et al, (2020), J Craniofac Surg
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondroma
Journal article
WILKIE A. and Calpena E., (2020), American Journal of Human Genetics
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Conference paper
Justice CM. et al, (2020), Hum Genet
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
Koelling N. et al, (2020), Bioinformatics
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Journal article
Kaplanis J. et al, (2020), Nature
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350
BMP2 or not BMP2? A SMAD6-related question in craniosynostosis
Conference paper
Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278
The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation
Conference paper
Abdullah UB. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1101 - 1102