Katherine Holman
Massachusetts General Hospital(US)Mass General Brigham(US)
Publications by Year
Research Areas
Neuroendocrine regulation and behavior, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Connective tissue disorders research, Aortic Disease and Treatment Approaches
Most-Cited Works
- → Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study(2007)596 cited
- → Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms(2018)195 cited
- → International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations(2016)193 cited
- → Evidence of founder chromosomes in fragile X syndrome(1992)186 cited
- → Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing(2015)135 cited
- → In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome(2012)110 cited