Isaac Kohane
Harvard University
H-index: 118
North America-United States
Top articles of Isaac Kohane
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Disease progression strikingly differs in research and real-world Parkinson's populations | medRxiv | Brett Beaulieu-Jones Francesca Frau Sylvie Bozzi Karen J Chandross M Judith Peterschmitt | 2024 |
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
Geoinference of Author Affiliations using NLP-based Text Classification | Brian Lee John S Brownstein Isaac S Kohane | 2024/4/11 | |
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations | bioRxiv | Shilpa Nadimpalli Kobren Mikhail A Moldovan Rebecca Reimers Daniel Traviglia Xinyun Li | 2024 |
Event Stream GPT: a data pre-processing and modeling library for generative, pre-trained transformers over continuous-time sequences of complex events | Advances in Neural Information Processing Systems | Matthew McDermott Bret Nestor Peniel Argaw Isaac S Kohane | 2024/2/13 |
Causal machine learning for predicting treatment outcomes | Stefan Feuerriegel Dennis Frauen Valentyn Melnychuk Jonas Schweisthal Konstantin Hess | 2024/4 | |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability | Proceedings of the National Academy of Sciences | Debdeep Dutta Oguz Kanca Rishi V Shridharan Paul C Marcogliese Benjamin Steger | 2024/2/27 |
What We Want to Publish at NEJM AI | Arjun K Manrai Andrew L Beam Isaac S Kohane | 2024/1/25 | |
Policy in Progress—The Race to Frame AI in Health Care | Isaac Kohane | 2024/2/22 | |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis | Genetics in Medicine | Jenna Pucel Lauren C Briere Chloe Reuter Perman Gochyyev Maria T Acosta | 2024/6/1 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
To do no harm—and the most good—with AI in health care | Carey Beth Goldberg Laura Adams David Blumenthal Patricia Flatley Brennan Noah Brown | 2024/2/22 | |
Mobilizing data during a crisis: Building rapid evidence pipelines using multi-institutional real world data | Healthcare | Jayson S Marwaha Maren Downing John Halamka Amy Abernethy Joseph B Franklin | 2024/6/1 |
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network | Genetics in Medicine | Rebecca C Spillmann Queenie K-G Tan Chloe Reuter Kelly Schoch Undiagnosed Diseases Network | 2023/4/1 |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
Predicting seizure recurrence after an initial seizure-like episode from routine clinical notes using large language models: a retrospective cohort study | The Lancet Digital Health | Brett K Beaulieu-Jones Mauricio F Villamar Phil Scordis Ana Paula Bartmann Waqar Ali | 2023/12/1 |
Unsupervised Anomaly Detection to Characterize Heterogeneity in Type 2 Diabetes | AMIA Summits on Translational Science Proceedings | Peniel N Argaw Jake A Kushner Isaac S Kohane | 2023 |
Artificial intelligence in medicine | David Riaño Szymon Wilk Annette ten Teije | 2019 |
Co-Authors
