Marjorie Withers

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 457 citations · Full text

Chromatin, Genome Instability, Genetics +4

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering et al. · The American Journal of Human Genetics · 2007 · 425 citations

Neurodevelopmental Disorders, Autism Phenotype, Potocki-lupski Syndrome +11

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki, Ken-Shiung Chen, Sung Sup Park et al. · Nature Genetics · 2000 · 422 citations · Full text

Genome Instability, Duplication 17P11.2—, Genetics +9

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 240 citations · Full text

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehli̇van et al. · Nature Genetics · 2011 · 224 citations

Natural Sciences, Genetics, Genome Structure +11