Dinah Yaeger
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, Genomic variations and chromosomal abnormalities, Hearing, Cochlea, Tinnitus, Genetics, Prenatal Screening and Diagnostics, Hearing Loss and Rehabilitation
Most-Cited Works
- → Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B(2004)717 cited
- → Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
- → NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations(2004)314 cited
- → Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome(2005)129 cited
- → Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher?Schinzel (3C) syndrome(2005)80 cited
- → Fine‐mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals(2008)59 cited
- → Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements(2005)41 cited
- → Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic(2006)26 cited
- → Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2mutations: Who should be offeredGJB2testing?(2007)24 cited
- → Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation(2007)13 cited