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Author Details
Full Name
Natalie Bir
Affiliation
The Institute for Genomic Medicine, Nationwide Children's Hospital
ORCID
Career Start Year
2010
Papers
6
H Index
4
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
34863095
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
2021
32637635
Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue.
Neurol Genet
2020
31271967
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.
iScience
2019
25652406
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
Hum Mol Genet
2015
21308999
Contactin 4 as an autism susceptibility locus.
Autism Res
2011
19880419
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
Hum Mol Genet
2010
1 - 6 of 6
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Benjamin J Kelly
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