Pengfei Liu

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 775 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu et al. · Human Molecular Genetics · 2009 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson et al. · The American Journal of Human Genetics · 2010 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho et al. · The American Journal of Human Genetics · 2014 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari Tokita, Edward S. Chen et al. · Genome Medicine · 2019 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17