Publications

2019

• Abnormal bone mineral content and density in people with tetrasomy 18p

2018

• Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
• The Chromosome 18 Clinical Research Center
• Chromosome 18 gene dosage map 2.0

2017

• WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4

2015

• Adults with chromosome 18 abnormalities
• A review of 18p deletions
• Consequences of chromosome 18q deletions
• Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: consequences for 18p deletion syndrome 
• Making chromosome abnormalities treatable conditions
• Ring 18 Molecular Assessment and Clinical Consequences
• Tetrasomy 18p: report of cognitive and behavioral characteristics
• Whole arm deletions of 18p: medical and developmental effects