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Office
7806 Glenbrook Rd
Bethesda, MD 20814Phone+1 301-512-9604- Is this information wrong?
Education & Training
- National Capital ConsortiumResidency, Pediatrics, 1989 - 1990
- Tufts Medical CenterResidency, Pediatrics, 1987 - 1988
- Loyola University Medical CenterResidency, Pediatrics, 1985 - 1987
- Boston VA Healthcare System (Brockton-West Roxbury)Internship, Transitional Year, 1984 - 1985
- University of Rochester School of Medicine and DentistryClass of 1984
Certifications & Licensure
- MA State Medical License Current
- DC State Medical License 1989 - 2024
- OH State Medical License 2019 - 2024
- VA State Medical License 1996 - 2000
- MD State Medical License 1995 - 2000
- IL State Medical License 1985 - 1987
- American Board of Medical Genetics and Genomics Clinical Biochemical/Molecular Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
Clinical Trials
- Copper Histidine Therapy for Menkes Diseases Start of enrollment: 1990 Jun 01
- Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Start of enrollment: 2009 Feb 27
- Clinical Biomarkers in Alpha-mannosidosis Start of enrollment: 2014 Jul 24
Publications & Presentations
PubMed
- 8 citationsTargeted next generation sequencing for newborn screening of Menkes disease.Richard B. Parad, Stephen G. Kaler, Evan Mauceli, Tanya D. Sokolsky, Ling Yi, Arindam Bhattacharjee> ;Molecular Genetics and Metabolism Reports. 2020 Sep 1
- 2 citationsEarly-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.Daniel C. Koboldt, Scott E. Hickey, Bimal Chaudhari, Theresa Mihalic Mosher, Tracy A. Bedrosian, Erin Crist, Stephen G. Kaler, Kim L. McBride, Peter White, Richard K. ...> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
- 15 citationsEstimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).Stephen G. Kaler, Carlos Ferreira, Lung S. Yam> ;Molecular Genetics and Metabolism Reports. 2020 Jun 5
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Press Mentions
- Clinicians Scramble to Save Newborn Twins from the Rare Neurodegenerative Disease That Took Their BrotherFebruary 5th, 2019
Grant Support
- Mechanisms Of Motor Neuron DiseaseEunice Kennedy Shriver National Institute Of Child Health &Human Development2009–2011
- Disorders Of Copper TransportEunice Kennedy Shriver National Institute Of Child Health &Human Development2009–2011
- Clinical And Molecular Characterization Of Phaces SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2008
- Hemostasis Mediated By The Platelet Glycoprotein (Gp)Ib Alpha-Ib Beta-Ix ComplexEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2008
- Disorders Of Copper TransportEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2008
- Clinical And Molecular Characterization Of Phaces SyndroEunice Kennedy Shriver National Institute Of Child Health &Human Development2006
- Hemostasis Mediated By The Platelet Glycoprotein (Gp)IbEunice Kennedy Shriver National Institute Of Child Health &Human Development2005–2006
- Disorders Of Copper TransportEunice Kennedy Shriver National Institute Of Child Health &Human Development2004–2006
- Hemostasis Mediated By The Platelet Glycoprotein ComplexEunice Kennedy Shriver National Institute Of Child Health &Human Development2004
Hospital Affiliations
- Nationwide Children's HospitalColumbus, Ohio
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