Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Anne Goriely, Ruth M. S. Hansen, Indira B. Taylor, +7

Nature Genetics

Testicular TumorsDevelopmental BiologySomatic VariantGenetic OriginGenetic Disorder +8

A biallelic mutation in <i>IL6ST</i> encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Tobias Schwerd, Stephen R.F. Twigg, Dominik Aschenbrenner, +22

The Journal of Experimental Medicine

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper, +29

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPre-initiation Complex +7

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd, +13

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderFrequent Somatic MosaicismGenetic Disorder +7

Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

Eleni Giannoulatou, Gil McVean, Indira B. Taylor, +16

Proceedings of the National Academy of Sciences

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

Lampros A. Mavrogiannis, Indira B. Taylor, Sally Davies, +3

European Journal of Human Genetics

BiologyHomeobox Genes Alx4Allelic VariantDevelopmental AnomalyDevelopmental Biology +7

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

Dominic Furniss, Laura A. Lettice, Indira B. Taylor, +4

Human Molecular Genetics

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

Sahan V. Rannan‐Eliya, Indira B. Taylor, Inge Marieke de Heer, +3

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsCraniofacial AnomaliesCraniofacial Surgery +4

Rare mutations of<i>FGFR2</i>causing apert syndrome: identification of the first partial gene deletion, and an<i>Alu</i>element insertion from a new subfamily

Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, +5

Human Mutation

Transcriptional RegulationSclerostinDevelopmental BiologyMendelian DisorderBone Morphogenic Protein +13

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

Dominic Furniss, Shih‐hsin Kan, Indira B. Taylor, +4

Journal of Medical Genetics