Elusive Phenomena, Unwieldy Things: Historical Perspectives on Experimental Control

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A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations von Banka, Siddharth, Newman, William G

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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases von Oftedal, Bergithe E., Hellesen, Alexander, Erichsen, Martina M., Bratland, Eirik, Vardi, Ayelet, Perheentupa, Jaakko, Kemp, E. Helen, Fiskerstrand, Torunn, Viken, Marte K., Weetman, Anthony P., Fleishman, Sarel J., Banka, Siddharth, Newman, William G., Sewell, W.A.C., Sozaeva, Leila S., Zayats, Tetyana, Haugarvoll, Kristoffer, Orlova, Elizaveta M., Haavik, Jan, Johansson, Stefan, Knappskog, Per M., Løvås, Kristian, Wolff, Anette S.B., Abramson, Jakub, Husebye, Eystein S.

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Genetic testing in the acute setting: a round table discussion von Newman, William G.

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Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis von Elliott, Graeme C, Gurtu, Rockesh, McCollum, Charles, Newman, William G, Wang, Tao

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A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population von Faundes, Víctor, Malone, Geraldine, Newman, William G, Banka, Siddharth

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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations von Liu, Jimmy Z, van Sommeren, Suzanne, Huang, Hailiang, Ng, Siew C, Alberts, Rudi, Takahashi, Atsushi, Ripke, Stephan, Lee, James C, Jostins, Luke, Shah, Tejas, Abedian, Shifteh, Cheon, Jae Hee, Cho, Judy, Daryani, Naser E, Franke, Lude, Fuyuno, Yuta, Hart, Ailsa, Juyal, Ramesh C, Juyal, Garima, Kim, Won Ho, Morris, Andrew P, Poustchi, Hossein, Newman, William G, Midha, Vandana, Orchard, Timothy R, Vahedi, Homayon, Sood, Ajit, Sung, Joseph J Y, Malekzadeh, Reza, Westra, Harm-Jan, Yamazaki, Keiko, Yang, Suk-Kyun, Barrett, Jeffrey C, Franke, Andre, Alizadeh, Behrooz Z, Parkes, Miles, B K, Thelma, Daly, Mark J, Kubo, Michiaki, Anderson, Carl A, Weersma, Rinse K

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome von Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R, Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G, O'Donnell-Luria, Anne, Ramsden, Simon C, Rehm, Heidi L, Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C, Williams, Maggie, Wood, Jordan C, Wright, Caroline F, Harrison, Steven M, Whiffin, Nicola

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Atherosclerotic Plaque Tissue: Noninvasive Quantitative Assessment of Characteristics with Software-aided Measurements from Conventional CT Angiography von Sheahan, Malachi, Ma, Xiaonan, Paik, David, Obuchowski, Nancy A, St Pierre, Samantha, Newman, 3rd, William P, Rae, Guenevere, Perlman, Eric S, Rosol, Michael, Keith, Jr, James C, Buckler, Andrew J

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Older Sex Offenders: Expanding the Interface Between Geriatric and Forensic Psychiatry von Newman, William J., Salem, Amanie

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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 von Luo, Yang, de Lange, Katrina M, Jostins, Luke, Moutsianas, Loukas, Randall, Joshua, Kennedy, Nicholas A, Lamb, Christopher A, McCarthy, Shane, Ahmad, Tariq, Edwards, Cathryn, Serra, Eva Goncalves, Hart, Ailsa, Hawkey, Chris, Mansfield, John C, Mowat, Craig, Newman, William G, Nichols, Sam, Pollard, Martin, Satsangi, Jack, Simmons, Alison, Tremelling, Mark, Uhlig, Holm, Wilson, David C, Lee, James C, Prescott, Natalie J, Lees, Charlie W, Mathew, Christopher G, Parkes, Miles, Barrett, Jeffrey C, Anderson, Carl A

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Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs von McDermott, John H., Sharma, Videha, Newman, William G., Wilson, Paul, Payne, Katherine, Wright, Stuart

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Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells von Wood, Katherine A, Rowlands, Charlie F, Thomas, Huw B, Woods, Steven, O'Flaherty, Julieta, Douzgou, Sofia, Kimber, Susan J, Newman, William G, O'Keefe, Raymond T

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease von Ellingford, Jamie M., MRes, Barton, Stephanie, BSc, Bhaskar, Sanjeev, MSc, Williams, Simon G., PhD, Sergouniotis, Panagiotis I., PhD, O'Sullivan, James, BSc, Lamb, Janine A., DPhil, Perveen, Rahat, BSc, Hall, Georgina, MSc, Newman, William G., PhD, Bishop, Paul N., PhD, Roberts, Stephen A., PhD, Leach, Rick, PhD, Tearle, Rick, PhD, Bayliss, Stuart, BSc, Ramsden, Simon C., PhD, Nemeth, Andrea H., DPhil, Black, Graeme C.M., DPhil

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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease von de Lange, Katrina M, Moutsianas, Loukas, Lee, James C, Lamb, Christopher A, Luo, Yang, Kennedy, Nicholas A, Jostins, Luke, Rice, Daniel L, Gutierrez-Achury, Javier, Ji, Sun-Gou, Heap, Graham, Nimmo, Elaine R, Edwards, Cathryn, Henderson, Paul, Mowat, Craig, Sanderson, Jeremy, Satsangi, Jack, Simmons, Alison, Wilson, David C, Tremelling, Mark, Hart, Ailsa, Mathew, Christopher G, Newman, William G, Parkes, Miles, Lees, Charlie W, Uhlig, Holm, Hawkey, Chris, Prescott, Natalie J, Ahmad, Tariq, Mansfield, John C, Anderson, Carl A, Barrett, Jeffrey C

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas von Smith, Miriam J, O'Sullivan, James, Bhaskar, Sanjeev S, Hadfield, Kristen D, Poke, Gemma, Caird, John, Sharif, Saba, Eccles, Diana, Fitzpatrick, David, Rawluk, Daniel, du Plessis, Daniel, Newman, William G, Evans, D Gareth

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A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer von Evans, D.Gareth R., van Veen, Elke M., Byers, Helen J., Wallace, Andrew J., Ellingford, Jamie M., Beaman, Glenda, Santoyo-Lopez, Javier, Aitman, Timothy J., Eccles, Diana M., Lalloo, Fiona I., Smith, Miriam J., Newman, William G.

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Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations von Smith, Miriam J, Beetz, Christian, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Anderson, Beverley, Daly, Sarah B, Urquhart, Jill E, Bholah, Zaynab, Oudit, Deemesh, Cheesman, Edmund, Kelsey, Anna, McCabe, Martin G, Newman, William G, Evans, D Gareth R

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Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions von Ciuca, Andrada, Banka, Siddharth, Clancy, Tara, Jones, Simon, Kirkham, Jamie J., Newman, William G., Payne, Katherine, Moldovan, Ramona

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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy von Böhm, Johann, Bulla, Monica, Urquhart, Jill E., Malfatti, Edoardo, Williams, Simon G., O'Sullivan, James, Szlauer, Anastazja, Koch, Catherine, Baranello, Giovanni, Mora, Marina, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Kingston, Helen, Dawson, Timothy, DeGoede, Christian G., Nixon, John, Boland, Anne, Deleuze, Jean‐François, Romero, Norma, Newman, William G., Demaurex, Nicolas, Laporte, Jocelyn

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