Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger(Clinic for Special Children), Kevin A. Strauss(Clinic for Special Children)
Cited by 306
Related Papers
Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia
|Annals of Neurology|2010|728
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
|Brain|2014|160
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
|Genetics in Medicine|2023|67
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
|The American Journal of Human Genetics|2017|58