IsaacSamuelKohaneMD

Endocrinology • Boston, MA

Pediatric Endocrinology

Lawrence J. Henderson Professor of Pediatrics, Boston Children's Hospital

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Office
300 Longwood Ave
Division Of Endocrinology
Boston, MA 02115
Phone+1 617-355-7476

Fax+1 617-730-0194

Education & Training

Boston Children’s Hospital/Boston Medical CenterFellowship, Pediatric Endocrinology, 1990 - 1993
Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 1987 - 1989
Boston University School of MedicineClass of 1987

Certifications & Licensure

MA State Medical License 1990 - 2025

Awards, Honors, & Recognition

Elected Member Institute of Medicine, 2009
Elected Member The American Society for Clinical Investigation, 2005

Clinical Trials

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network Start of enrollment: 2015 Sep 16
Recruiting
Roles: Contact

Publications & Presentations

PubMed

Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms.
Amelia L M Tan, Rafael S Gonçalves, William Yuan, Gabriel A Brat, Robert Gentleman
JAMIA Open. 2024-12-01
Geoinference of author affiliations using NLP-based text classification.
Brian Lee, John S Brownstein, Isaac S Kohane
Scientific Reports. 2024-10-16
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li
Biorxiv. 2024-08-13

Lectures

ACM BCB 2013
Boston University, Bethesda, Maryland - 9/22/2013

Press Mentions

AI Medical Diagnosis: Faster, but Not Necessarily BetterNovember 6th, 2024
ChatGPT Is More Empathetic Than Real Doctors, Experts SayMay 2nd, 2023
Commentary: We’re Not Ready to Be Diagnosed by ChatGPTApril 17th, 2023
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Grant Support

Informatics For Integrating Biology &The Bedside (I2B2)National Library Of Medicine2010–2011
Core 6 AdministrationNational Library Of Medicine2010–2011
Core 5 DisseminationNational Library Of Medicine2010–2011
Core 4 Education And OutreachNational Library Of Medicine2010–2011
Core 3 InfrastructureNational Library Of Medicine2010–2011
Core 2 Driving Biology ProjectsNational Library Of Medicine2010–2011
Core 1National Library Of Medicine2010–2011
Bioinformatics And Integrative/Comparative GenomicsNational Institute Of Neurological Disorders And Stroke2008–2011
Training Program In Bioinformatics And Integrative GenomicsNational Human Genome Research Institute2008–2011
Preventing The IncidentalomeNational Library Of Medicine2009–2010
Presenting Genome Information In Patient Electronic Records: The Informed CohortNational Library Of Medicine2009–2010
Gping: Informatics For Personal Control Of Genomic DataNational Library Of Medicine2007–2010
Informatics For Integrating Biology And The Bedside(Rmi)National Library Of Medicine2005–2009
I2b2: New Driving Biological Projects (To BE Named)National Library Of Medicine2007
I2b2: AdministrationNational Library Of Medicine2007
Bioinformatics And Integrative/Comparative GenomicsNational Institute Of Neurological Disorders And Stroke2007
Training Grant In Bioinformatics And Functional GenomicsNational Human Genome Research Institute2003–2005
Index And Retrieval Of Pathology SpecimensNational Cancer Institute2001–2005
Informatics For Integrating Biology/ The Bedside (RMI)National Library Of Medicine2004
Core--Gene Expression And BioinformaticsNational Institute Of Neurological Disorders And Stroke2001–2002
Training Grant In Bioinformatics And Functional GenomecsNational Human Genome Research Institute2001–2002
Biomedical Aplications Of The Next Generation InternetNational Library Of Medicine1999–2000
Health Info Identifi And De-Indentification ToolkitNational Library Of Medicine1998–2000
Multiplatform Internet Access To Multimedia EmrsNational Library Of Medicine1994–1996