Martijn H. Breuning

机构：Leiden University Medical Center · ORCID：0000-0002-8212-4319

发表论文 190 篇 · 总被引 17499 次 · h-index 62

代表论文

• Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome (2012 · Nature Genetics · 被引 436)
• Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome (2010 · Nature Genetics · 被引 381)
• Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome (2012 · Nature Genetics · 被引 357)
• Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients (2013 · Human Mutation · 被引 224)
• Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement (2012 · Nature Genetics · 被引 219)
• Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid (2011 · The American Journal of Human Genetics · 被引 191)