PaulSKruszkaJr.MDMPH, FACMG

Medical Genetics • Bethesda, MD

Clinical Genetics

Chief Medical Officer, GeneDx

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Office
35 Convent Dr
Bldg 35; Room 1B207
Bethesda, MD 20892
Phone+1 301-402-9654

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 - 2024
VA State Medical License 1998 - 2024
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

15 citations
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
Yonit A. Addissie, Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson
Environmental Health. 2020-06-08
22 citations
Phenotype delineation of ZNF462 related syndrome
Paul Kruszka, Tommy Hu, Sung-Kook Hong, Rebecca Signer, Benjamin Cogné
American Journal of Medical Genetics. Part A. 2019-10-01
29 citations
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud
American Journal of Human Genetics. 2020-07-02

Press Mentions

New GeneDx Study Reveals Racial Disparities in Genetic Diagnosis Due to Systemic Barriers, Not Diagnostic YieldsNovember 7th, 2024
Groundbreaking GUARDIAN Study Shows Benefits of Adding Genome Sequencing to Newborn Screening; Augments and Improves Standard Newborn ScreeningOctober 24th, 2024
GeneDx Announces Progress on GUARDIAN Study and Promise of Early Genomic Testing to End Rare Disease “Diagnostic Odyssey”March 20th, 2023
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