J
Jennifer McCallum
Researcher at Children's Hospital of Philadelphia
Publications - 7
Citations - 1144
Jennifer McCallum is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: NIPBL & Cornelia de Lange Syndrome. The author has an hindex of 7, co-authored 7 publications receiving 1078 citations. Previous affiliations of Jennifer McCallum include University of Pennsylvania.
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Journal ArticleDOI
Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B
Ian D. Krantz,Jennifer McCallum,Cheryl DeScipio,Maninder Kaur,Lynette A. Gillis,Dinah Yaeger,Lori Jukofsky,Nora Wasserman,Armand Bottani,Colleen A. Morris,Małgorzata J.M. Nowaczyk,Helga V. Toriello,Michael J. Bamshad,John C. Carey,Eric F. Rappaport,Shimako Kawauchi,Arthur D. Lander,Anne L. Calof,Hui Hua Li,Marcella Devoto,Laird G. Jackson +20 more
TL;DR: The genomic structure of NIPBL is characterized and it is found that it is widely expressed in fetal and adult tissues and facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
Journal ArticleDOI
NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations
Lynette A. Gillis,Jennifer McCallum,Maninder Kaur,Cheryl DeScipio,Dinah Yaeger,Allison Mariani,Antonie D. Kline,Hui Hua Li,Marcella Devoto,Marcella Devoto,Laird G. Jackson,Laird G. Jackson,Ian D. Krantz,Ian D. Krantz +13 more
TL;DR: The spectrum and distribution of NIPBL mutations in a large well-characterized cohort of individuals with Cornelia de Lange syndrome suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations.
Journal ArticleDOI
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Maninder Kaur,Cheryl DeScipio,Jennifer McCallum,Dinah Yaeger,Marcella Devoto,Marcella Devoto,Laird G. Jackson,Laird G. Jackson,Nancy B. Spinner,Ian D. Krantz +9 more
TL;DR: These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast.
Journal ArticleDOI
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study
Sudha Nallasamy,Femida Kherani,Dinah Yaeger,Jennifer McCallum,Maninder Kaur,Marcella Devoto,Laird G. Jackson,Ian D. Krantz,Terri L. Young +8 more
TL;DR: A trend toward increased ptosis severity was found among individuals with truncating (nonsense and frameshift) mutations compared with individuals with missense mutations, suggesting NIPBL may be directly involved in ptosis pathogenesis.
Journal ArticleDOI
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,Kathy Lewis,Lisa P. Soslow,Udayan K. Shah,William P. Potsic,Catherine A. Stolle,Ian D. Krantz +7 more
TL;DR: To determine the cause of their HL and screen for syndromic forms of HL, individuals were offered a panel of tests that included GJB2 mutation analysis, renal and thyroid function studies, a CT scan of the temporal bones, an ophthalmology evaluation, and, at times, additional genetic tests.