Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Laura Carrel, Huntington F. Willard · Nature · 2005 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +8

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Medicine, Genetics, Molecular Genetics +14

PipMaker—A Web Server for Aligning Two Genomic DNA Sequences

Scott Schwartz, Zheng Zhang, Kelly A. Frazer et al. · Genome Research · 2000 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner

Susan Galloway, Kenneth P. McNatty, Lisa Cambridge et al. · Nature Genetics · 2000 · 1.1K citations

Medicine, Genetics, Molecular Genetics +16