Carlos Pabón-Peña

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

Leo W. J. Klomp, Julie C. Vargas, Saskia W. C. van Mil et al. · Hepatology · 2004 · 293 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

Ira W. Deveson, Binsheng Gong, Kevin Lai et al. · Nature Biotechnology · 2021 · 264 citations · Full text

Medicine, Molecular Medicine, Oncology +16

Enrichment of sequencing targets from the human genome by solution hybridization

Ryan Tewhey, Masakazu Nakano, Xiaoyun Wang et al. · Genome biology · 2009 · 115 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Compound Microsatellite Repeats: Practical and Theoretical Features

Laura N. Bull, Carlos Pabón-Peña, Nelson B. Freimer · Genome Research · 1999 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

Wendell Jones, Binsheng Gong, Natalia Novoradovskaya et al. · Genome biology · 2021 · 60 citations · Full text

Life Sciences, Genetics, Oncology +17