COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome von STOREY, Helen, SAVIGE, Judy, SIVAKUMAR, Vanessa, ABBS, Stephen, FLINTER, Frances A

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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease von Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.

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Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals von Adhya, Dwaipayan, Swarup, Vivek, Nagy, Roland, Dutan, Lucia, Shum, Carole, Valencia-Alarcón, Eva P., Jozwik, Kamila Maria, Mendez, Maria Andreina, Horder, Jamie, Loth, Eva, Nowosiad, Paulina, Lee, Irene, Skuse, David, Flinter, Frances A., Murphy, Declan, McAlonan, Grainne, Geschwind, Daniel H., Price, Jack, Carroll, Jason, Srivastava, Deepak P., Baron-Cohen, Simon

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Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study von Scriven, Paul N, Flinter, Frances A, Khalaf, Yakoub, Lashwood, Alison, Mackie Ogilvie, Caroline

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The importance of clinician, patient and researcher collaborations in Alport syndrome von Rheault, Michelle N., Savige, Judith, Randles, Michael J., Weinstock, André, Stepney, Melissa, Turner, A Neil, Parziale, Gina, Gross, Oliver, Flinter, Frances A, Miner, Jeffrey H, Lagas, Sharon, Gear, Susie, Lennon, Rachel

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study von Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences von Baker, Kate, Devine, Rory T., Ng-Cordell, Elise, Raymond, F. Lucy, Hughes, Claire

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Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome von KING, Kathy, FLINTER, Frances A, NIHALANI, Vandana, GREEN, Peter M

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants von Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort von Braddon, Fiona, Downward, Lewis, Coward, Richard J, Griffin, Sian, Hall, Matt, Karet Frankl, Fiona, Kerecuk, Larissa, Pinney, Jenny, Sayer, John A, Waters, Aoife, Bockenhauer, Detlef, Gale, Daniel P, Agbonmwandolor, Joy, Ahmad, Zubaidah, Asgari, Ellie, Ayers, Amanda, Barratt, Alison, Barratt, Jonathan, Benyon, Sarah, Bhandari, Sunil, Bond, Sally, Bramham, Kate, Branson, Angela, Byrne, Conor, Campbell, Gary, Capell, Alys, Cathcart, Tracy, Cheung, Chee Kay, Chick, Katy-Jane, Chrysochou, Tina, Clayton, Christopher, Cook, Wendy, Coward, Richard J, Drayson, Mark, Evans, Dawn, Flinter, Frances, Gale, Daniel P, Gallagher, Hugh, Game, David, Gavrila, Madita, Gilchrist, Mark, Goldsmith, Christopher, Gray, Barry, Griffith, Megan, Gupta, Sanjana, Hillman, Kate, Htet, Zay, Huish, Sharon, Hull, Richard, Hunter, Karl, Inston, Nick, Jayne, David, Jenkins, Alison, Kamesh, Lavanya, Kanigicherla, Durga, Karet Frankl, Fiona, Kaur, Amrit, King, Garry, King, Grant, Kislowska, Ewa, Kokocinska, Maria, Lawless, Laura, Mabillard, Holly, Mahdi, Khalid, Masoud, Sherry, Mayfair, Jake, Meyrick, Simon, Moochhala, Shabbir, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Osmaston, Kate, Padmanabhan, Neal, Pattison, James, Persu, Alexandre, Petchey, William G, Post, Frank, Sandford, Richard, Sarween, Nadia, Sayer, John A, Sebire, Neil, Selvaskandan, Haresh, Sharma, Asheesh, Sheerin, Neil, Shetty, Harish, Simms, Roslyn, Smith, Kerry, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Tischkowitz, Marc, Tse, Yincent, Tyerman, Kay, Usher, Miranda, Wechalekar, Ashutosh, Welsh, Gavin I, West, Nicol, Williams, Angharad, Wilson, Patricia D

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A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome von King, Kathy, Flinter, Frances A., Green, Peter M.

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Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN von Torra, Roser, Lipska-Ziętkiewicz, Beata, Acke, Frederic, Antignac, Corinne, Becker, Jan Ulrich, Cornec-Le Gall, Emilie Cornec-Le, van Eerde, Albertien M, Feltgen, Nicolas, Ferrari, Rosella, Gale, Daniel P, Gross, Oliver, Haeberle, Stefanie, Wlodkowski, Tanja, Heidet, Laurence, Lennon, Rachel, Massella, Laura, Topaloglu, Rezan, Pfau, Kristina, Del Prado Venegas Pizarro, Maria, Zealey, Heidi

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Preimplantation Genetic Diagnosis: Needs To Be Tightly Regulated von Flinter, Frances A.

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‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandem... von Wolstencroft, Jeanne, Hull, Laura, Warner, Lauren, Akhtar, Tooba Nadeem, Mandy, William, Skuse, David, Baker, Kate, Dewhurst, Eleanor, Lafont, Amy, Lucy Raymond, F, Shirley, Terry, Tilley, Hayley, Timur, Husne, Titterton, Catherine, Walker, Neil, Wallwork, Sarah, Wicks, Francesca, Ye, Zheng, Erwood, Marie, Andrews, Sophie, Birch, Philippa, Bowen, Samantha, Bradley, Karen, Challenger, Aimee, Chawner, Samuel, Cuthbert, Andrew, Hall, Jeremy, Holmans, Peter, Law, Sarah, Lewis, Nicola, Morrison, Sinead, Moss, Hayley, Owen, Michael, Ray, Sinead, Sopp, Matthew, Tong, Molly, Bree, Marianne van den, Coscini, Nadia, Davies, Sarah, Denaxas, Spiros, Denyer, Hayley, Fatih, Nasrtullah, Juj, Manoj, Kerry, Ellie, Lucock, Anna, Printzlau, Frida, Srinivasan, Ramya, Walker, Susan, Watkins, Alice, Searle, Beverly, Pelling, Anna, Dean, John, Robertson, Lisa, Alan, Denise Williams, Lucy, Donaldson, Procter, Annie, Berg, Jonathan, Lampe, Anne, Rankin, Julia, Joss, Shelagh, Chitty, Lyn, Flinter, Frances, Holder, Muriel, Kraus, Alison, Barwell, Julian, Vasudevan, Pradeep, Weber, Astrid, Newman, William, Splitt, Miranda, Clowes, Virginia, Dijk, Fleur van, Harrison, Rachel, Kini, Usha, Quarrell, Oliver, Baralle, Diana, Mansour, Sahar, Crow, Yanick

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Germline selection shapes human mitochondrial DNA diversity von Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F.

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A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndrome von King, Kathy, Flinter, Frances A., Green, Peter M.

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Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred von Kerecuk, Larissa, Sajoo, Anaar, McGregor, Lesley, Berg, Jonathan, Haq, Mushfequr R., Sebire, Neil J., Bingham, Coralie, Edghill, Emma L., Ellard, Sian, Taylor, Judy, Rigden, Sue, Flinter, Frances A., Woolf, Adrian S.

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Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort von Braddon, Fiona, Downward, Lewis, Hall, Matt, Kerecuk, Larissa, Sayer, John A., Sinha, Smeeta, Srivastava, Shalabh, Tam, Frederick W.K., Waters, Aoife, Wong, Edwin, Huang, Kui, Ye, Jamie, Nitsch, Dorothea, Saleem, Moin, Almasarwah, Rashid, Annear, Nicholas, Balasubramaniam, Gowrie, Bansal, Tarun, Barratt, Jonathan, Bendle, Janet, Bhandari, Sunil, Bramham, Kate, Brocklebank, Vicky, Cairns, Hugh, Chess, James, Chitalia, Nihil, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Colclough, Viv, Conway, Eileen, Cook, H. Terence, Crosbie, Sarah, Cserep, Gabor, Davidson, Katherine, Dixit, Abhijit, Drayson, Mark, Dreyer, Gavin, Francis, Lucy, Gallagher, Hugh, Gear, Susie, Goggolidou, Paraskevi, Gooden, Patricia, Grammatikopoulos, Tassos, Griffith, Megan, Gumus, Steph, Harris, Tess, Haskell, Louise, Hiremath, Mrityunjay, Htet, Zay, Inston, Nick, Jenfa, Gbemisola, Jones, Colin, Kanigicherla, Durga, Karim, Mahzuz, King, Garry, King, Grant, Klata, Edyta, Ledson, Thomas, Lennon, Rachel, Maggie Lai, Ling Wai, Lovitt, Graham, Lyons, Paul, Mahdi, Khalid, Mark, Patrick B., Mckinnell, Joanna, Moochhala, Shabbir, Morgan, Ann, Murray, Shona, Ong, Albert CM, Osmaston, Kate, Padmanabhan, Neal, Paul, Riny, Perkins, Stephen J., Petchey, William G., Pickering, Matthew C., Plummer, Zoe, Power, Albert, Pusey, Charles, Rabara, Ria, Raju, Tina, Rumjon, Adam, Sandford, R.N., Sayer, John A., Shah, Sapna, Sinha, Manish, Srivastava, Shalabh, Stott, Ian, Stroud, Katerina, Taylor, Robert, Turnbull, Alison, Walsh, Stephen B., Wechalekar, Ashutosh, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Karen, Wood, Grahame, Woodward, Emma

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Detection of mutations in COL4A5 in patients with Alport Syndrome von Plant, Kate E., Green, Peter M., Vetrie, David, Flinter, Frances A.

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