A meta-analysis of post-exercise outcomes in people with amyotrophic lateral sclerosis von Donohue, Cara, Carnaby, Giselle, Reilly, Mary Catherine, Colquhoun, Ryan J., Lacomis, David, Garand, Kendrea L. (Focht)

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KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement von Nemani, Tarishi, Steel, Dora, Kaliakatsos, Marios, DeVile, Catherine, Ververi, Athina, Scott, Richard, Getov, Spas, Sudhakar, Sniya, Male, Alison, Mankad, Kshitij, Muntoni, Francesco, Reilly, Mary M, Kurian, Manju A, Carr, Lucinda, Munot, Pinki

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Guideline for investigation and management of adults and children presenting with a thrombocytosis von Harrison, Claire N., Bareford, David, Butt, Nauman, Campbell, Peter, Conneally, Eibhlean, Drummond, Mark, Erber, Wendy, Everington, Tamara, Green, Anthony R., Hall, Georgina W., Hunt, Beverley J., Ludlam, Christopher A., Murrin, Richard, Nelson‐Piercy, Catherine, Radia, Deepti H., Reilly, John T., Van der Walt, Jon, Wilkins, Bridget, McMullin, Mary F.

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Clinical and genetic characterization of leukoencephalopathies in adults von Lynch, David S, Rodrigues Brandão de Paiva, Anderson, Zhang, Wei Jia, Bugiardini, Enrico, Freua, Fernando, Tavares Lucato, Leandro, Macedo-Souza, Lucia Inês, Lakshmanan, Rahul, Kinsella, Justin A, Merwick, Aine, Rossor, Alexander M, Bajaj, Nin, Herron, Brian, McMonagle, Paul, Morrison, Patrick J, Hughes, Deborah, Pittman, Alan, Laurà, Matilde, Reilly, Mary M, Warren, Jason D, Mummery, Catherine J, Schott, Jonathan M, Adams, Matthew, Fox, Nick C, Murphy, Elaine, Davagnanam, Indran, Kok, Fernando, Chataway, Jeremy, Houlden, Henry

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Impact of the common MTHFR 677C→T polymorphism on blood pressure in adulthood and role of riboflavin in modifying the genetic risk of hypertension: evidence from the JINGO project... von Ward, Mary, Hughes, Catherine F, Strain, J J, Reilly, Rosie, Cunningham, Conal, Molloy, Anne M, Horigan, Geraldine, Casey, Miriam, McCarroll, Kevin, O'Kane, Maurice, Gibney, Michael J, Flynn, Albert, Walton, Janette, McNulty, Breige A, McCann, Adrian, Kirwan, Laura, Scott, John M, McNulty, Helene

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Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia von HORGA, Alejandro, PITCEATHLY, Robert D. S, HANNA, Michael G, REILLY, Mary M, BLAKE, Julian C, WOODWARD, Catherine E, ZAPATER, Pedro, FRATTER, Carl, MUDANOHWO, Ese E, PLANT, Gordon T, HOULDEN, Henry, SWEENEY, Mary G

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair von Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., Hanna, Michael G.

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Proteome analysis of patients with early onset colorectal cancer in Ireland von O Reilly, Mary, Kristic, Aleksandar, Murphy, Catherine, Linehan, Anna, Wynne, Kieran, Sheahan, Kieran, Winter, Des C, McDermott, Ray, Kolch, Walter

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort von Thaventhiran, James E. D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V. V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.

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Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease von Green, Courtney R., Bonelli, Roberto, Ansell, Brendan R.E., Tzaridis, Simone, Handzlik, Michal K., McGregor, Grace H., Hart, Barbara, Trombley, Jennifer, Reilly, Mary M., Bernstein, Paul S., Egan, Catherine, Fruttiger, Marcus, Wallace, Martina, Bahlo, Melanie, Friedlander, Martin, Metallo, Christian M., Gantner, Marin L.

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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy von 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

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Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1 von Rodrigues, Filipa Gomes, Pipis, Menelaos, Heeren, Tjebo F.C., Fruttiger, Marcus, Gantner, Mari, Vermeirsch, Sandra, Okada, Mali, Friedlander, Martin, Reilly, Mary M, Egan, Catherine

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Randomized Trial of Occlusive Wrap for Heat Loss Prevention in Preterm Infants von Reilly, Maureen C., RRT, Vohra, Sunita, MD, MSc, Rac, Valeria E., MD, PhD, Dunn, Michael, MD, Ferrelli, Karla, BA, Kiss, Alex, PhD, Vincer, Michael, MD, Wimmer, John, MD, Zayack, Denise, RN, MPH, Soll, Roger F., MD

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing von Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.

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Protocol for the development of a core outcome set for studies of pregnant women with pre-existing multimorbidity von Lee, Siang Ing, Eastwood, Kelly-Ann, Moss, Ngawai, Azcoaga-Lorenzo, Amaya, Subramanian, Anuradhaa, Anand, Astha, Taylor, Beck, Nelson-Piercy, Catherine, Yau, Christopher, McCowan, Colin, O"Reilly, Dermot, Hope, Holly, Kennedy, Jonathan Ian, Abel, Kathryn Mary, Locock, Louise, Brocklehurst, Peter, Plachcinski, Rachel, Brophy, Sinead, Agrawal, Utkarsh, Thangaratinam, Shakila, Nirantharakumar, Krishnarajah, Black, Mairead

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease von Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease von Horga, Alejandro, Manole, Andreea, Mitchell, Alice L., Bugiardini, Enrico, Hargreaves, Iain P., Mowafi, Walied, Bettencourt, Conceição, Blakely, Emma L., He, Langping, Polke, James M., Woodward, Catherine E., Dalla Rosa, Ilaria, Shah, Sachit, Pittman, Alan M., Quinlivan, Ros, Reilly, Mary M., Taylor, Robert W., Holt, Ian J., Hanna, Michael G., Pitceathly, Robert D. S., Spinazzola, Antonella, Houlden, Henry

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Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses von Reilly, Christopher M., Nunnery, Catherine, Dwyer, Ann, Lassaline, Mary E., Bellone, Rebecca R., Settles, Matthew L., Britton, Monica, Joshi, Nikhil, Vig, Savanna, Crausaz, Margo, Lounsberry, Zachary T., Knickelbein, Kelly E., Singer-Berk, Moriel H., Bentley, Ellison

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Oxidant stress regulatory genetic variation in recipients and donors contributes to risk of primary graft dysfunction after lung transplantation von Cantu, Edward, MD, Shah, Rupal J., MD, Lin, Wei, PhD, Daye, Zhongyin J., PhD, MS, Diamond, Joshua M., MD, MSCE, Suzuki, Yoshikazu, MD, MS, Ellis, John H., BA, Borders, Catherine F., BA, Andah, Gerald A., BA, Beduhn, Ben, BA, Meyer, Nuala J., MD, MS, Ruschefski, Melanie, BA, Aplenc, Richard, MD, MS, Feng, Rui, PhD, Christie, Jason D., MD, MS

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Analysis of plasma biopterin levels in psychiatric disorders suggests a common BH4 deficit in schizophrenia and schizoaffective disorder von Richardson, Mary Ann, Read, Laura L, Reilly, Margaret A, Clelland, James D, Clelland, Catherine L Taylor

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