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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
- 298 citationsHigh Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman
American Journal of Human Genetics. 2017-11-02 - 36 citationsDe Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt
Human Mutation. 2016-04-01 - 404 citationsPhenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number VariantsSanthosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman
The New England Journal of Medicine. 2012-10-03
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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