De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition
Burleigh, Alice, Moraitis, Elena, Al Masroori, Eman, Al-Abadi, Eslam, Hong, Ying, Omoyinmi, Ebun, Titheradge, Hannah, Stals, Karen, Jones, Wendy D, Gait, Anthony, Jayarajan, Vignesh, Di, Wei-Li, Sebire, Neil, Solman, Lea, Ogboli, Malobi, Welch, Steven B, Sudarsanam, Annapurna, Wacogne, Ian, Price-Kuehne, Fiona, Jensen, Barbara, Brogan, Paul A, Eleftheriou, Despina
Published in Frontiers in immunology (05.12.2023)
Published in Frontiers in immunology (05.12.2023)
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Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series
Ching, Brian C.F., Bennett, Sophie D., Rojas, Natalia, Heyman, Isobel, Liang, Holan, Catanzano, Matteo, Coughtrey, Anna E., Ashraf, Tazeen, Jones, Wendy D., Male, Alison, Shafran, Roz
Published in Cognitive behaviour therapist (01.01.2022)
Published in Cognitive behaviour therapist (01.01.2022)
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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J
Published in Journal of medical genetics (01.11.2018)
Published in Journal of medical genetics (01.11.2018)
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Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Balestrini, Simona, Chiarello, Daniela, Gogou, Maria, Silvennoinen, Katri, Puvirajasinghe, Clinda, Jones, Wendy D, Reif, Philipp, Klein, Karl Martin, Rosenow, Felix, Weber, Yvonne G, Lerche, Holger, Schubert-Bast, Susanne, Borggraefe, Ingo, Coppola, Antonietta, Troisi, Serena, Møller, Rikke S, Riva, Antonella, Striano, Pasquale, Zara, Federico, Hemingway, Cheryl, Marini, Carla, Rosati, Anna, Mei, Davide, Montomoli, Martino, Guerrini, Renzo, Cross, J Helen, Sisodiya, Sanjay M
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders
Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Published in Human molecular genetics (03.11.2023)
Published in Human molecular genetics (03.11.2023)
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Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis
Gregory, Louise C, Shah, Pratik, Sanner, Juliane R F, Arancibia, Monica, Hurst, Jane, Jones, Wendy D, Spoudeas, Helen, Le Quesne Stabej, Polona, Williams, Hywel J, Ocaka, Louise A, Loureiro, Carolina, Martinez-Aguayo, Alejandro, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.
Published in Movement disorders (01.01.2024)
Published in Movement disorders (01.01.2024)
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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A
Published in Human molecular genetics (27.01.2023)
Published in Human molecular genetics (27.01.2023)
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Mosaic structural variation in children with developmental disorders
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 in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders
Botto, Lorenzo D., Meeths, Marie, Campos‐Xavier, Belinda, Bergamaschi, Rosalba, Mazzanti, Laura, Scarano, Emanuela, Finocchi, Andrea, Cancrini, Caterina, Zirn, Birgit, Kühnle, Ingrid, Kramm, Christof Maria, Alanay, Yasemin, Jones, Wendy D., Irving, Melita, Sabir, Ataf, Henter, Jan‐Inge, Borgström, Birgit, Nordgren, Ann, Hammarsjö, Anna, Putti, Caterina, Mozzato, Chiara, Zuccarello, Daniela, Nishimura, Gen, Bonafè, Luisa, Grigelioniene, Giedre, Unger, Sheila, Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma
Bolli, N, Li, Y, Sathiaseelan, V, Raine, K, Jones, D, Ganly, P, Cocito, F, Bignell, G, Chapman, M A, Sperling, A S, Anderson, K C, Avet-Loiseau, H, Minvielle, S, Campbell, P J, Munshi, N C
Published in Blood cancer journal (New York) (02.09.2016)
Published in Blood cancer journal (New York) (02.09.2016)
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The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Bernkopf, Marie, Abdullah, Ummi B, Bush, Stephen J, Wood, Katherine, Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoff, Thibaut, Loic M, Williams, Jonathan, Blair, Edward M, Fiona Blanco Kelly, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A, Johnson, Diana, Jones, Wendy D, Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M, Leitch, Harry G, Morton, Jenny Ev, Nemeth, Andrea H, Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J, Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W, Wilkie, Andrew Om, Goriely, Anne
Published in bioRxiv (27.07.2022)
Published in bioRxiv (27.07.2022)
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Quantifying the contribution of recessive coding variation to developmental disorders
Martin, Hilary C, Jones, Wendy D, Stephenson, James, Handsaker, Juliet, Gallone, Giuseppe, Mcrae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Wright, Caroline F, Fitzpatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C
Published in bioRxiv (14.11.2017)
Published in bioRxiv (14.11.2017)
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