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Jennifer McCallum | Researchclopedia

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Jennifer McCallum

8

Works

1,283

Citations

7

h-index

7

i10-index

Research Topics

Genomics and Chromatin Dynamics Hearing, Cochlea, Tinnitus, Genetics RNA Research and Splicing

Affiliations

Children's Hospital of Philadelphia2004–2008

University of Pennsylvania2004–2023

Top Works

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz,Jennifer McCallum,et al.

2004717 citations

Genomic variations and chromosomal abnormalities

Hearing Loss and Rehabilitation

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis,Jennifer McCallum,et al.

2004314 citations

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Maninder Kaur,Cheryl DeScipio,et al.

2005129 citations

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur,Justin Blair,et al.

202339 citations

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late‐onset Friedreich ataxia

Catherine A. Stolle,Edward C. Frackelton,et al.

200831 citations

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

Dinah Yaeger,Jennifer McCallum,et al.

200626 citations

Additional clinical manifestations in children with sensorineural hearing loss and biallelic<i>GJB2</i>mutations: Who should be offered<i>GJB2</i>testing?

Margaret A. Kenna,Heidi L. Rehm,et al.

200724 citations