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Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Journal article

Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

amplimap: a versatile tool to process and analyze targeted NGS data.

Journal article

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

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

Journal article

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

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Journal article

Gregor A. et al, (2018), Am J Hum Genet, 103, 305 - 316

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Journal article

Vasileiou G. et al, (2018), Am J Hum Genet, 102, 468 - 479

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Journal article

Sevilla T. et al, (2015), Eur J Neurol, 22, 1548 - 1555

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