Chitra Prasad

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Inessa Grinberg, Hope Northrup, Holly H Ardinger et al. · Nature Genetics · 2004 · 246 citations · Full text

Gene Deletion Data, Developmental Biology, Mendelian Disorder +11

An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study

Karina A. Issekutz, John M. Graham, Chitra Prasad et al. · American Journal of Medical Genetics Part A · 2005 · 234 citations · Full text

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo et al. · The American Journal of Human Genetics · 2019 · 190 citations · Full text

Genetic Testing, Diagnostic Utility, Medicine +9

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger et al. · The American Journal of Human Genetics · 2015 · 164 citations · Full text

Mendelian Disorder, Genetic Disorder, Natural Sciences +7