Christopher Cunniff
- A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
2012/05/01 by Mark J. Rieder, Mark J. Rieder, Glenn E. Green +32 · 27 citations
Biochemistry, Genetics and Molecular Biology · Dentistry · #Biology #Craniofacial Disorders and Treatments #DLX5 #Exome sequencing #Gene #Genetics #Haploinsufficiency #Homeobox #Homeotic gene #Missense mutation #Mutation #Noggin #Oral and Maxillofacial Pathology #Phenotype #Proband #Transcription factor #dental development and anomalies
- Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
2016/11/04 by Christopher Cunniff, Jennifer A. Bassetti, Nathan A. Ellis · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #DNA Repair Mechanisms #Genomics and Chromatin Dynamics #CRISPR and Genetic Engineering #Bloom syndrome #Genetics #Frameshift mutation #Germline mutation #Chromosome instability #Nonsense mutation #Missense mutation #Cancer #Cancer syndrome #Biology #Medicine #Mutation #Chromosome #Gene #Helicase