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Office
725 Irving Ave
Suite 110
Syracuse, NY 13210Phone+1 315-464-5450Fax+1 315-464-7238
Education & Training
- Aurora Health CareResidency, Internal Medicine, 1982 - 1985
- University of Wisconsin School of Medicine & Public HealthClass of 1982
Certifications & Licensure
- NY State Medical License 2008 - 2025
- SC State Medical License 2004 - 2011
- IL State Medical License 1989 - 2008
- MI State Medical License 2002 - 2006
- WI State Medical License 1983 - 2003
- American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Clinical Trials
- Investigation of Neuroserpin as an Autism Candidate Gene Start of enrollment: 2009 Jun 01
Publications & Presentations
PubMed
- 1 citationsTREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li
Nature Communications. 2024-02-22 - 7 citationsGain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden
Genome Medicine. 2022-06-13 - 17 citationsClustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W Ten Broeke
American Journal of Human Genetics. 2021-09-02
Press Mentions
- Clinical Delineation, Sex Differences, and Genotype–Phenotype Correlation in Pathogenic KDM6A Variants Causing X-linked Kabuki Syndrome Type 2March 5th, 2021
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