Pamela Trapane

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 461 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn Renard, Tammy M. Holm, Regan Veith et al. · European Journal of Human Genetics · 2010 · 151 citations · Full text

Medicine, Cardiology, Pathobiology +11

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12