Search Results - "Mcwilliam, Catherine"

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients by Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth

“…Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration…”
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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain by Laskowski, Roman A, Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M, Firth, Helen V, Wright, Caroline F

“…We present a generic, multidisciplinary approach for improving our understanding of novel missense variants in recently discovered disease genes exhibiting…”
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Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study by Hamilton, Mark J, Robb, Yvonne, Cumming, Sarah, Gregory, Helen, Duncan, Alexis, Rahman, Monika, McKeown, Anne, McWilliam, Catherine, Dean, John, Wilcox, Alison, Farrugia, Maria E, Cooper, Anneli, McGhie, Josephine, Adam, Berit, Petty, Richard, Longman, Cheryl, Findlay, Iain, Japp, Alan, Monckton, Darren G, Denvir, Martin A

“…High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in…”
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Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study by Hamilton, Mark J, Robb, Yvonne, Cumming, Sarah, Gregory, Helen, Duncan, Alexis, Rahman, Monika, McKeown, Anne, McWilliam, Catherine, Dean, John, Wilcox, Alison, Farrugia, Maria E, Cooper, Anneli, McGhie, Josephine, Adam, Berit, Petty, Richard, Longman, Cheryl, Findlay, Iain, Japp, Alan, Monckton, Darren G, Denvir, Martin A

“…[This corrects the article DOI: 10.1371/journal.pone.0174166.]…”
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Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia by McWilliam, Catherine A, Ridout, Cheryl K, Brown, Ruth M, McWilliam, Robert C, Tolmie, John, Brown, Garry K

“…Abstract The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical…”
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Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome? by McWilliam, Catherine A., Devlin, Mark F., Joss, Shelagh K., Koppel, David A., Longman, Cheryl, Ray, Arup, Whiteford, Margo L.

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Evidence for 28 genetic disorders discovered by combining healthcare and research data by Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

“…De novo mutations in protein-coding genes are a well-established cause of developmental disorders 1 . However, genes known to be associated with developmental…”
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Prevalence and architecture of de novo mutations in developmental disorders by McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

“…The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important…”
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

“…Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs…”
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De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 by Cumming, Sarah A, Hamilton, Mark J, Robb, Yvonne, Gregory, Helen, McWilliam, Catherine, Cooper, Anneli, Adam, Berit, McGhie, Josephine, Hamilton, Graham, Herzyk, Pawel, Tschannen, Michael R, Worthey, Elizabeth, Petty, Richard, Ballantyne, Bob, Warner, Jon, Farrugia, Maria Elena, Longman, Cheryl, Monckton, Darren G

“…Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of a CTG trinucleotide repeat in the 3'-untranslated region of the DMPK gene…”
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The contribution of X-linked coding variation to severe developmental disorders by Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

“…Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher…”
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia by Reich, Adi, Cross, J. Helen, Scheffer, Ingrid E., Krishnappa, Netravathi, Awada, Jana, Baralle, Diana, Bernhard, Birgitta, Clasper, Susan, Clayton-Smith, Jill, Cresswell, Lara, Donaldson, Alan, Ellis, Ian, Gaunt, Lorraine, He, Liu, Hewitt, Sarah, Hurst, Jane, Kirk, Claire, Kivuva, Emma, Kumar, Dhavendra, Mansour, Sahar, McCann, Emma, McKee, Shane, Mugalaasi, Hood, Murphy, Helen, Newbury-Ecob, Ruth, Pilz, Daniela T., Pollard, Martin, Pridham, Abigail, Saggar, Anand, Scott, Richard, Shearing, Emma, Smithson, Sarah, Sneddon, Linda, Suri, Mohnish, Tatton-Brown, Kate, Thomson, Jenny, Torokwa, Audrey, Varghese, Vinod, Yau, Michael, Artigas, Maria Soler, Boustred, Chris, Evans, David, Flicek, Paul, Hart, Deborah, Langford, Cordelia, Lawson, Daniel, Li, Rui, O'Donnovan, Michael, Parker, Victoria, Parr, Jeremy R., Paunio, Tiina, Rehnström, Karola, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Williamson, Kathleen A., Wong, Kim, Alachkar, Hana, Ambegaonkar, Gautum, Attwood, Antony, Austin, Steve, Bennett, David, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bradley, John R., Browning, Michael, Clement, Emma, Doffinger, Rainer, Drewe, Elizabeth, Frary, Amy, Ghataorhe, Pavandeep K., Greenhalgh, Alan, Hackett, Scott, Hadinnapola, Charaka, Heemskerk, Johan W.M., Humbert, Marc, James, Roger, Krishnakumar, Deepa, Lawrie, Allan, Lentaigne, Claire, Maimaris, Jesmeen, Maw, Anna, Megy, Karyn, Moledina, Shahin, Morrell, Nicholas, Nejentsev, Sergey, Polwarth, Gary, Quinti, Isabella, Raymond, F. Lucy, Samarghitean, Crina, Sanchis-Juan, Alba, Southgate, Laura, Stauss, Hans, Thrasher, Adrian, Trembath, Richard, Turro, Ernest, Williamson, Catherine, Yeatman, Nigel, Millichap, John J.

“…The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon…”
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

“…We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants…”
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy by Scoto, Mariacristina, Rossor, Alexander M, Harms, Matthew B, Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y, Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W.C.G (Truus), Baas, Frank, Taylor, J Paul, Benatar, Michael, Connolly, Anne M, Al-Lozi, Muhammad T, Nixon, John, de Goede, Christian G.E.L, Foley, A Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W.K “Kling, Mercuri, Eugenio, Baloh, Robert H, Reilly, Mary M, Muntoni, Francesco

“…OBJECTIVE:To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to…”
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2 by Renard, Marjolijn, Callewaert, Bert, Malfait, Fransiska, Campens, Laurence, Sharif, Saba, del Campo, Miguel, Valenzuela, Irene, Mcwilliam, Catherine, Coucke, Paul, De Paepe, Anne, De Backer, Julie

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing by Hocking, Lynne J, Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J, O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J, Miedzybrodzka, Zosia

“…NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in…”
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A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland by Gillingwater, Thomas H, McWilliam, Catherine, Horrocks, Iain, McWilliam, Kenneth, Hamilton, Mark, Fletcher, Elaine, Williams, Nicola, Smith, Sarah, Parson, Simon H

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature by Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

“…The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described…”
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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype by Sadleir, Lynette G, Mountier, Emily I, Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A, Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C, Murali, Hema R, Carvill, Gemma, Myers, Candace T, Mefford, Heather C, Scheffer, Ingrid E

“…OBJECTIVE:To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS:A case…”
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Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: Akin to the new MECP2 duplication syndrome? by McWilliam, Catherine, Cooke, A, Lobo, D, Warner, J, Taylor, M, Tolmie, J.L

“…Abstract A novel X-chromosome linked phenotype is reported. Three affected males had learning disability in early childhood and subsequently developed…”
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