Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family

by Jain, Vani, Feehally, John, Jones, Gabriela, Robertson, Lisa, Nair, Dheepa, Vasudevan, Pradeep
Published 2014

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

by Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina
Published 2016

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

by Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Published 2015

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

by Ogi, Tomoo, Walker, Sarah, Stiff, Tom, Hobson, Emma, Limsirichaikul, Siripan, Carpenter, Gillian, Prescott, Katrina, Suri, Mohnish, Byrd, Philip J., Matsuse, Michiko, Mitsutake, Norisato, Nakazawa, Yuka, Vasudevan, Pradeep, Barrow, Margaret, Stewart, Grant S., Taylor, A. Malcolm R., O'Driscoll, Mark, Jeggo, Penny A.
Published 2012

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

by Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Published 2015

Mosaic structural variation in children with developmental disorders

by King, Daniel A., Jones, Wendy D., Crow, Yanick J., Dominiczak, Anna F., Foster, Nicola A., Gaunt, Tom R., Harris, Jade, Hellens, Stephen W., Homfray, Tessa, Innes, Josie, Jones, Elizabeth A., Joss, Shelagh, Kulkarni, Abhijit, Mansour, Sahar, Morris, Andrew D., Parker, Michael J., Porteous, David J., Shihab, Hashem A., Smith, Blair H., Tatton-Brown, Katrina, Tolmie, John L., Trzaskowski, Maciej, Vasudevan, Pradeep C., Wakeling, Emma, Wright, Michael, Plomin, Robert, Timpson, Nicholas J., Hurles, Matthew E.
Published 2015