An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 907 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

The Androgen Receptor CAG Repeat Polymorphism and X-Chromosome Inactivation in Australian Caucasian Women with Infertility Related to Polycystic Ovary Syndrome

Theresa E. Hickey, Achamma Chandy, Robert J. Norman · The Journal of Clinical Endocrinology & Metabolism · 2002 · 204 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Amélie Piton, Jacques L. Michaud, Swaroop Aradhya et al. · Human Molecular Genetics · 2008 · 190 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Clinical and genetic characterization of manifesting carriers of DMD mutations

Payam Soltanzadeh, Michael J. Friez, Diane M. Dunn et al. · Neuromuscular Disorders · 2010 · 161 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Ken Inoue, Hitoshi Osaka, Virginia C. Thurston et al. · The American Journal of Human Genetics · 2002 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17