Publications — Radcliffe Department of Medicine

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E. et al, (2020), Genet Med

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

TWIGG S. et al, (2020), Bone Research

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes: overlapping disorders caused by somatic mutations in hedgehog-signalling genes - the mosaic Hedgehog spectrum.

Lovgren ML. et al, (2019), Br J Dermatol

Recurrent mosaic SMO mutation in two patients confirms Happle-Tinschert Syndrome as a variant of Curry-Jones Syndrome

TWIGG STEPHEN. et al, (2019), British Journal of Dermatology

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E. et al, (2019), Am J Hum Genet, 104, 709 - 720

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC. et al, (2019), Hum Mol Genet

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T. et al, (2019), Haematologica, 104, 609 - 621

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Romanelli Tavares VL. et al, (2019), Mol Syndromol, 10, 40 - 47

A dominant-negative mutation in the BTB domain of KCTD15 in a family with frontal lipoma, congenital heart disease and cutis aplasia of the scalp defines a novel syndrome

Miller KA. et al, (2018), EUROPEAN JOURNAL OF HUMAN GENETICS, 26, 233 - 234

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

Mosaic SMO mutation in a patient with linear basal follicular hamartomas confirms Happle-Tinschert syndrome as a variant of Curry-Jones syndrome

Lovgren M-L. et al, (2018), BRITISH JOURNAL OF DERMATOLOGY, 179, 78 - 79

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF. et al, (2018), Am J Hum Genet, 102, 1195 - 1203

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ. et al, (2018), J Med Genet, 55, 28 - 38

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Davies B. et al, (2017), Hum Mol Genet, 26, 3869 - 3882

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC. et al, (2017), Eur J Hum Genet, 25, 1126 - 1133

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Wigby K. et al, (2017), Am J Med Genet A, 173, 1586 - 1592

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132

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