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Office
Children's Hospital of Philadelphia
Philadelphia, PA 19104Phone+1 215-426-7418Fax+1 215-426-7152
Education & Training
- Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2011 - 2016
- University of Alabama School of MedicineClass of 2011
Certifications & Licensure
- ME State Medical License Current
- DC State Medical License 2022 - 2026
- VA State Medical License 2022 - 2026
- MD State Medical License 2021 - 2025
- PA State Medical License 2011 - 2024
- LA State Medical License 2020 - 2022
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.Maud Favier, Elise Brischoux-Boucher, Louise C Pyle, Nicolas Mottet, Marion Auber-Lenoir
Prenatal Diagnosis. 2024-12-01 - 5 citationsGermline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.Louise C Pyle, Jung Kim, Jonathan Bradfield, Scott M Damrauer, Kurt D'Andrea
European Urology. 2024-04-01 - 1 citationsExpanding the reproductive organ phenotype of CHD7-spectrum disorder.Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi
American Journal of Medical Genetics. Part A. 2023-05-01
Grant Support
- Potentiation Of Mutant CFTR ActivityNational Heart, Lung, And Blood Institute2009–2010
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