
Catherine M (Bearce) Nowak MD
Clinical Genetics, Pediatric Medical Genetics
Clinical Director Division of Medical Genetics and Metabolism
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Mass General Hospital55 Fruit StreetBoston, MA 02114
Phone+1 617-726-1561
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Summary
- Dr. Catherine (Bearce) Nowak is a medical geneticist based in Boston, MA, specializing in clinical and pediatric medical genetics. She completed her residency in pediatrics at UMass Chan Medical School and received her fellowship training at The National Birth Defects Center. Currently, she serves as Clinical Chief at Massachusetts General Hospital and has roles at Boston Children's Hospital, Shriners Hospitals for Children-Springfield, and previously at Brigham and Women's Hospital. Dr. Nowak has contributed to several publications in reputable journals and has been recognized as a Top Doctor and an Exceptional Woman in Medicine by Castle Connolly among other accolades.
Education & Training
The National Birth Defects CenterFellowship, Medical Genetics and Genomics/Maternal-Fetal Medicine, 1992 - 1994
UMass Chan Medical SchoolResidency, Pediatrics, 1989 - 1992
McGill University Faculty of MedicineClass of 1989
Certifications & Licensure
MA State Medical License 1992 - 2027
NH State Medical License 1996 - 2011
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Top Doctor Castle Connelly, 2022
- Top Doctors Castle Connolly, 2016-2022
- Exceptional Women in Medicine Castle Connolly, 2017-2018, 2020
Publications & Presentations
PubMed
- 6 citationsExpanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham
European Journal of Human Genetics. 2024-08-01 - Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham
European Journal of Human Genetics. 2024-08-01 - 11 citationsDeleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi
American Journal of Human Genetics. 2023-02-02
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