Susan Zeesman
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Genetic Syndromes and Imprinting
Most-Cited Works
- → Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants(2018)220 cited
- → Human Chromosome 7: DNA Sequence and Biology(2003)214 cited
- → Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations(2003)195 cited
- → Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia(2006)185 cited
- → Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2(2006)121 cited
- → A private view of heterozygosity: Eight‐year follow‐up study on carriers of the Tay‐Sachs gene detected by high school screening in montreal(1984)102 cited
- → Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression(2016)99 cited
- → SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant(2013)95 cited
- → Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients(2003)83 cited
- → Paternal transmission of fragile X syndrome(2004)81 cited