Paul S Kruszka Jr. MD MPH, FACMG
Clinical Genetics
Chief Medical Officer, GeneDx
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1215 Lee StCharlottesville, VA 22908
Phone+1 434-924-3627
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Education & Training
University of Virginia Medical CenterResidency, Family Medicine, 1998 - 2001
University of Michigan Medical SchoolClass of 1998
Certifications & Licensure
DC State Medical License 2021 - 2026
VA State Medical License 1998 - 2026
DE State Medical License 2001 - 2007
NC State Medical License 2000 - 2000
American Board of Family Medicine Family Medicine
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 4 citationsStable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.Laura V Blanton, Adrianna K San Roman, Geryl Wood, Ashley Buscetta, Nicole Banks
Cell Genomics. 2024-09-11 - 15 citationsThe human Y and inactive X chromosomes similarly modulate autosomal gene expression.Adrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, Neha V Bokil, Levi Teitz
Cell Genomics. 2024-01-10 - Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.Ekanem N Ekure, Kareem O Musa, Ngozi Ulonnam, Paul Kruszka, Maximilian Muenke
American Journal of Medical Genetics. Part A. 2023-09-01
Press Mentions
GeneDx Expands Commercial Footprint for Exome and Genome Testing with Cerebral Palsy as a New IndicationMarch 4th, 2025- Landmark Seqfirst-Neo Study Showcases the Significant Impact of Genomic Testing in the NICU, Revealing Gaps in Current ProtocolsFebruary 24th, 2025
- GeneDx Announces ultraRapid Whole Genome Sequencing, Delivering Actionable Results in as Soon as 48 Hours to Inform Care for Critically Ill NICU and PICU PatientsFebruary 13th, 2025
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