De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

Por Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.
Publicado no Case Rep Genet (2016)

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study

Por Chitty, Lyn S, Kagan, Karl O, Molina, Francisca S, Waters, Jonathan J, Nicolaides, Kypros H
Publicado em 2006

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

Por Karampetsou, Evangelia, Morrogh, Deborah, Ballard, Terry, Waters, Jonathan J, Lench, Nicholas, Chitty, Lyn S
Publicado no Prenat Diagn (2014)

Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

Por Galizia, Elizabeth C., Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J., Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M.
Publicado em 2012

Inherited 2q23.1 microdeletions involving the MBD5 locus

Por Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
Publicado no Mol Genet Genomic Med (2017)