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John B. Moeschler | doi.page

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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

→ Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays(2006)

245 cited

→ A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome(2007)193 cited

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.(1996)