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Sally J. Kochmar

Magee-Womens Hospital(US)

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17

Papers

240

Citations

9

h-index

9

i10-index

Sally J. Kochmar is an academic researcher from Magee-Womens Hospital. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics & Congenital heart defects research. The author has an h-index of 9, co-authored 15 publications.

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Congenital heart defects research Chromosomal and Genetic Variations Genomics and Rare Diseases

Papers by this author

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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

2015 · Journal of Neurodevelopmental Disorders · 76 citations

https://doi.org/10.1186/s11689-015-9122-9

Jie Hu Jun Liao Malini Sathanoori Sally J. Kochmar

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review

2017 · Molecular Cytogenetics · 7 citations

https://doi.org/10.1186/s13039-017-0326-4

Jie Hu Zhishuo Ou Elena Infante Sally J. Kochmar

Research topics

topics

Genomic variations and chromosomal abnormalities

Prenatal Screening and Diagnostics

Congenital heart defects research

Chromosomal and Genetic Variations

Genomics and Rare Diseases

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