Sarina G. Kant
Purdue University West Lafayette(US)Erasmus MC(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Growth Hormone and Insulin-like Growth Factors
Most-Cited Works
- → Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development(2008)650 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux(2004)364 cited
- → Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome(2012)349 cited
- → Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome(2010)276 cited
- → Mutations in CDMP1 cause autosomal dominant brachydactyly type C(1997)261 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients