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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
- A novel KDM5C variant corrects a previously erroneous diagnosis.Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, Charles E Schwartz, Roger E Stevenson
European Journal of Medical Genetics. 2025-02-01 - CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.Jack Tellerday, Jennifer Black, Donald C Schuessler, Nienke P Dosa, Wendy Alcaraz
American Journal of Medical Genetics. Part A. 2024-10-01 - 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
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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