Managing Bardet-Biedl Syndrome-Now and in the Future von Forsythe, Elizabeth, Kenny, Joanna, Bacchelli, Chiara, Beales, Philip L

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development von Munye, Mustafa M, Diaz-Font, Anna, Ocaka, Louise, Henriksen, Maiken L, Lees, Melissa, Brady, Angela, Jenkins, Dagan, Morton, Jenny, Hansen, Soren W, Bacchelli, Chiara, Beales, Philip L, Hernandez-Hernandez, Victor

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IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy von Scambler, Peter J, Beales, Philip L, Bland, Elizabeth, Tobin, Jonathan L, Bacchelli, Chiara, Tuysuz, Beyhan, Hill, Josephine, Rix, Suzanne, Pearson, Chad G, Kai, Masatake, Hartley, Jane, Johnson, Colin, Irving, Melita, Elcioglu, Nursel, Winey, Mark, Tada, Masazumi

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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency von Bacchelli, Chiara, PhD, Moretti, Federico A., PhD, Carmo, Marlene, PhD, Adams, Stuart, PhD, Stanescu, Horia C., PhD, Pearce, Kerra, PhD, Madkaikar, Manisha, MD, PhD, Gilmour, Kimberly C., PhD, Nicholas, Adeline K., PhD, Woods, C. Geoffrey, MD, PhD, Kleta, Robert, MD, PhD, Beales, Phil L., MD, PhD, Qasim, Waseem, MD, PhD, Gaspar, H. Bobby, MD, PhD

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Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency von Pan-Hammarström, Qiang, Hammarström, Lennart, Salzer, Ulrich, Du, Likun, Björkander, Janne, Cunningham-Rundles, Charlotte, Nelson, David L, Bacchelli, Chiara, Gaspar, H Bobby, Offer, Steven, Behrens, Timothy W, Grimbacher, Bodo

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Novel missense variants in the RNF213 gene from a European family with Moyamoya disease von Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya

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Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature von Antony, Dinu, Nampoory, Narayanan, Bacchelli, Chiara, Melhem, Motasem, Wu, Kaman, James, Chela T., Beales, Philip L., Hubank, Mike, Thomas, Daisy, Mashankar, Anant, Behbehani, Kazem, Schmidts, Miriam, Alsmadi, Osama

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The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mic... von Bacchelli, Chiara, PhD, Buckland, Karen F., PhD, Buckridge, Sylvie, BSc, Salzer, Ulrich, MD, Schneider, Pascal, PhD, Thrasher, Adrian J., MD, PhD, Gaspar, H. Bobby, MD, PhD

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Characterisation and validation of insertions and deletions in 173 patient exomes von Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M, Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C, Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia

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Whole-genome sequencing of patients with rare diseases in a national health system von Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H.

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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome von Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C.M., Scambler, Peter J.

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Identification and validation of loss of function variants in clinical contexts von Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip

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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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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans von Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher

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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome von Slade, Ingrid, Bacchelli, Chiara, Davies, Helen, Murray, Anne, Abbaszadeh, Fatemeh, Hanks, Sandra, Barfoot, Rita, Burke, Amos, Chisholm, Julia, Hewitt, Martin, Jenkinson, Helen, King, Derek, Morland, Bruce, Pizer, Barry, Prescott, Katrina, Saggar, Anand, Side, Lucy, Traunecker, Heidi, Vaidya, Sucheta, Ward, Paul, Futreal, P Andrew, Vujanic, Gordan, Nicholson, Andrew G, Sebire, Neil, Turnbull, Clare, Priest, John R, Pritchard-Jones, Kathryn, Houlston, Richard, Stiller, Charles, Stratton, Michael R, Douglas, Jenny, Rahman, Nazneen

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Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis von Kammermeier, Jochen, Drury, Suzanne, James, Chela T, Dziubak, Robert, Ocaka, Louise, Elawad, Mamoun, Beales, Philip, Lench, Nicholas, Uhlig, Holm H, Bacchelli, Chiara, Shah, Neil

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Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years von Kammermeier, Jochen, Dziubak, Robert, Pescarin, Matilde, Drury, Suzanne, Godwin, Heather, Reeve, Kate, Chadokufa, Sibongile, Huggett, Bonita, Sider, Sara, James, Chela, Acton, Nikki, Cernat, Elena, Gasparetto, Marco, Noble-Jamieson, Gabi, Kiparissi, Fevronia, Elawad, Mamoun, Beales, Phil L, Sebire, Neil J, Gilmour, Kimberly, Uhlig, Holm H, Bacchelli, Chiara, Shah, Neil

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ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency von McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes von West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.

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Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma von Minskaia, Ekaterina, Maimaris, Jesmeen, Jenkins, Persephone, Albuquerque, Adriana S., Hong, Ying, Eleftheriou, Despina, Gilmour, Kimberly C., Grace, Richard, Moreira, Fernando, Grimbacher, Bodo, Morris, Emma C., Burns, Siobhan O.

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