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

著者: Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.
出版年 Case Rep Genet (2016)

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

著者: Chitty, Lyn S, Kagan, Karl O, Molina, Francisca S, Waters, Jonathan J, Nicolaides, Kypros H
出版事項 2006

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

著者: Karampetsou, Evangelia, Morrogh, Deborah, Ballard, Terry, Waters, Jonathan J, Lench, Nicholas, Chitty, Lyn S
出版年 Prenat Diagn (2014)

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy

著者: Coppola, Antonietta, Morrogh, Deborah, Farrell, Fiona, Balestrini, Simona, Hernandez-Hernandez, Laura, Krithika, S., Sander, Josemir W., Waters, Jonathan J., Sisodiya, Sanjay M.
出版年 Mol Syndromol (2017)

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

著者: Galizia, Elizabeth C., Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J., Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M.
出版事項 2012

Inherited 2q23.1 microdeletions involving the MBD5 locus

著者: Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
出版年 Mol Genet Genomic Med (2017)

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

著者: Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor
出版年 Front Cell Neurosci (2020)

Diagnostic implications of genetic copy number variation in epilepsy plus

著者: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla
出版年 Epilepsia (2019)