Breuning, Martijn H.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

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Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

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Cerebral microbleeds in CADASIL

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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

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Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

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Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors

Hoekstra, A. S., de Graaff, M. A., Briaire-de Bruijn, I. H., Ras, C., Seifar, R. M., van Minderhout, I., Cornelisse, C. J., Hogendoorn, P. C. W., Breuning, M. H., Suijker, J., et al. (2015) · Oncotarget

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