Ignatia B. Van den Veyver

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Chromatin, Genome Instability, Transcriptional Regulation +11

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz et al. · Annals of Neurology · 2000 · 345 citations

Mendelian Disorder, Genetic Disorder, Genetics +15

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Xiaoling Wang, V. Reid Sutton, J Omar Peraza-Llanes et al. · Nature Genetics · 2007 · 278 citations

Signal Transduction, Tissue Development, Molecular Physiology +8

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw et al. · Prenatal Diagnosis · 2008 · 265 citations · Full text

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Jinglan Zhang, Jianli Li, Jennifer Saucier et al. · Nature Medicine · 2019 · 258 citations

Developmental Biology, Mendelian Disorder, Prenatal Genetic Testing +12