Pankaj B. Agrawal

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 805 citations · Full text

Life Sciences, Molecular Medicine, Neurology +17

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini et al. · The American Journal of Human Genetics · 2019 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak et al. · The American Journal of Human Genetics · 2006 · 237 citations · Full text

Medicine, Molecular Genetics, Neurology +12

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey et al. · PEDIATRICS · 2017 · 235 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 217 citations · Full text

Medicine, Genetics, Molecular Genetics +17