Profiles

Susan Slaugenhaupt, Ph.D.

Massachusetts General Hospital Research Institute

Verified email at mgh.harvard.edu

Cited by 43261

rare genetic diseases RNA splicing

Daniel Ory

Chief Medical Officer, Arbor Bio

Verified email at arbor.bio

Cited by 27134

metabolic disease rare genetic diseases genetic editing

Li Li

SVP Clinical Informatics, Sema4; Assistant Professor, Mount Sinai School of Medicine

Verified email at sema4.com

Cited by 12348

Rare Genetic Diseases Machine Learning Clinical application EMR RWE Precision Medicine

Shengfang Jin

Vice President, Discovery Biology, Editas Medicine

Verified email at editasmed.com

Cited by 11591

molecular & cellular biology oncology rare genetic diseases CRISPR gene/cell therapy small molecule drug discovery

A. Mesut Erzurumluoglu

Senior Scientist & PO, Boehringer Ingelheim. Previously at Univ. of Cambridge, Leicester & …

Verified email at boehringer-ingelheim.com

Cited by 5886

Genetic Epidemiology Statistical Genetics Rare Genetic Diseases Lung Diseases Consanguinity

Nishtha M Singh (Nishtha Panwar)

Neovation Consultancy Services Pte. Ltd.

Verified email at neovation.sg

Cited by 2474

Medical Affairs Medical Communications Rare genetic diseases

Sylvia Poulos

Recordati Rare Diseases

Verified email at recordati.com

Cited by 2382

Obesity adipose and skeletal muscle fetal development nutrition rare genetic diseases

Maria Teresa Fiorenza

Sapienza University of Rome

Verified email at uniroma1.it

Cited by 2231

Rare Genetic Diseases Lysosomal Storage Diseases Neurodevelopment

Emily Groopman

Post-doctoral research fellow, O'Donnell-Luria laboratory, Broad Institute of MIT and Harvard …

Verified email at cumc.columbia.edu

Cited by 1574

genetics and genomics mendelian disorders rare genetic diseases

Rahul C. Bhoyar

CSIR- Institute of Genomics and Integrative Biology, New Delhi, India, 110025

Verified email at igib.in

Cited by 1438

Neuroscience Next Generation Sequencing Rare Genetic Diseases

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