ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
Ochoa, Eguzkine, Lee, Sunwoo, Lan-Leung, Benoit, Dias, Renuka P., Ong, Ken K., Radley, Jessica A., Pérez de Nanclares, Gustavo, Martinez, Rosa, Clark, Graeme, Martin, Ezequiel, Castaño, Luis, Bottolo, Leonardo, Maher, Eamonn R.
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
Get full text
Journal Article
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
Finezilber, Yael, Massey, Charlotte, Radley, Jessica A, Murphy, Elaine
Published in Practical neurology (01.10.2024)
Published in Practical neurology (01.10.2024)
Get full text
Journal Article
Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals
Radley, Jessica A., Connolly, Melissa, Sabir, Ataf, Kanani, Farah, Carley, Helena, Jones, Rachel L., Hyder, Zerin, Gompertz, Lianne, Reardon, Willie, Richardson, Ruth, McClelland, Louise, Maher, Eamonn R.
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
Get full text
Journal Article
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
Radley, Jessica A., O'Sullivan, Rory B.G., Turton, Sarah E., Cox, Helen, Vogt, Julie, Morton, Jenny, Jones, Elizabeth, Smithson, Sarah, Lachlan, Katherine, Rankin, Julia, Clayton‐Smith, Jill, Willoughby, Josh, Elmslie, Frances F., Sansbury, Francis H., Cooper, Nicola, Balasubramanian, Meena
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
Get full text
Journal Article
Further delineation of phenotypic spectrum of SCN2A‐related disorder
Richardson, Ruth, Baralle, Diana, Bennett, Christopher, Briggs, Tracy, Bijlsma, Emilia K., Clayton‐Smith, Jill, Constantinou, Panayiotis, Foulds, Nicola, Jarvis, Joanna, Jewell, Rosalyn, Johnson, Diana S., McEntagart, Meriel, Parker, Michael J., Radley, Jessica A., Robertson, Lisa, Ruivenkamp, Claudia, Rutten, Julie W., Tellez, James, Turnpenny, Peter D., Wilson, Valerie, Wright, Michael, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
Get full text
Journal Article
De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Syrbe, Steffen, Taglialatela, Maurizio, Lemke, Johannes R
Published in Annals of neurology (01.02.2024)
Published in Annals of neurology (01.02.2024)
Get full text
Journal Article
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Copeland, Harriet, Low, Karen J., Wynn, Sarah L., Ahmed, Ayesha, Arthur, Victoria, Balasubramanian, Meena, Bennett, Katya, Berg, Jonathan, Bertoli, Marta, Bryson, Lisa, Bucknall, Catrin, Campbell, Jamie, Chandler, Kate, Chauhan, Jaynee, Clarkson, Amy, Coles, Rachel, Conti, Hector, Costello, Philandra, Coupar, Tessa, Craig, Amy, Dean, John, Dillon, Amy, Dixit, Abhijit, Drew, Kathryn, Eason, Jacqueline, Forzano, Francesca, Foulds, Nicola, Gardham, Alice, Ghali, Neeti, Green, Andrew, Hanna, William, Harrison, Rachel, Hegarty, Mairead, Higgs, Jenny, Holder, Muriel, Irving, Rachel, Jain, Vani, Johnson, Katie, Jolley, Rachel, Jones, Wendy D., Jones, Gabriela, Joss, Shelagh, Kalinauskiene, Ruta, Kanani, Farah, Kavanagh, Karl, Khan, Mahmudur, Khan, Naz, Kivuva, Emma, Lahiri, Nayana, Lakhani, Neeta, Lampe, Anne, Lynch, Sally Ann, Mansour, Sahar, Marsden, Alice, Massey, Hannah, McKee, Shane, Mohammed, Shehla, Naik, Swati, Nesarajah, Mithushanaa, Newbury-Ecob, Ruth, Osborne, Fiona, Parker, Michael J., Patterson, Jenny, Pottinger, Caroline, Prapa, Matina, Prescott, Katrina, Quinn, Shauna, Radley, Jessica A., Robart, Sarah, Ross, Alison, Rosti, Giulia, Sansbury, Francis H., Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Shears, Debbie, Smithson, Sarah, Stewart, Helen, Suri, Mohnish, Tadros, Shereen, Theobald, Rachel, Thomas, Rhian, Tsoulaki, Olga, Vasudevan, Pradeep, Rodriguez, Maribel Verdesoto, Vittery, Emma, Whyte, Sinead, Woods, Emily, Wright, Thomas, Zocche, David, Firth, Helen V., Wright, Caroline F.
Published in Genetics in Medicine Open (01.10.2024)
Published in Genetics in Medicine Open (01.10.2024)
Get full text
Journal Article