John B. Moeschler
Dartmouth College(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays(2014)590 cited
- → Evaluation of mental retardation: Recommendations of a consensus conference(1997)402 cited
- → The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies(2009)396 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Evidence Report: Genetic and metabolic testing on children with global developmental delay [RETIRED](2011)258 cited