Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte von Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.

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Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study von Sheridan, Eamonn, Dr, Wright, John, Prof, Small, Neil, Prof, Corry, Peter C, MBBCh, Oddie, Sam, MBChB, Whibley, Catherine, PhD, Petherick, Emily S, PhD, Malik, Teena, RGN, Pawson, Nicole, PhD, McKinney, Patricia A, Prof, Parslow, Roger C, PhD

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Germline TET2 loss of function causes childhood immunodeficiency and lymphoma von Stremenova Spegarova, Jarmila, Lawless, Dylan, Mohamad, Siti Mardhiana Binti, Engelhardt, Karin R., Doody, Gina, Shrimpton, Jennifer, Rensing-Ehl, Anne, Ehl, Stephan, Rieux-Laucat, Frederic, Cargo, Catherine, Griffin, Helen, Mikulasova, Aneta, Acres, Meghan, Morgan, Neil V., Poulter, James A., Sheridan, Eamonn G., Chetcuti, Philip, O'Riordan, Sean, Anwar, Rashida, Carter, Clive R., Przyborski, Stefan, Windebank, Kevin, Cant, Andrew J., Lako, Majlinda, Bacon, Chris M., Savic, Sinisa, Hambleton, Sophie

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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects von Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.

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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling von Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation von Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.

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PEDIA: prioritization of exome data by image analysis von Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms von Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D, Schier, Alexander F, O'Callaghan, Christopher, Chung, Eddie M K, Reinhardt, Richard, Mitchison, Hannah M, King, Stephen M, Omran, Heymut, Drummond, Iain A

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Fine-scale population structure and demographic history of British Pakistanis von Arciero, Elena, Dogra, Sufyan A., Malawsky, Daniel S., Mezzavilla, Massimo, Tsismentzoglou, Theofanis, Huang, Qin Qin, Hunt, Karen A., Mason, Dan, Sharif, Saghira Malik, van Heel, David A., Sheridan, Eamonn, Wright, John, Small, Neil, Carmi, Shai, Iles, Mark M., Martin, Hilary C.

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Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype von Migliorini, Gabriele, Fiege, Bettina, Hosking, Fay J., Ma, Yussanne, Kumar, Rajiv, Sherborne, Amy L., da Silva Filho, Miguel Inacio, Vijayakrishnan, Jayaram, Koehler, Rolf, Thomsen, Hauke, Irving, Julie A., Allan, James M., Lightfoot, Tracy, Roman, Eve, Kinsey, Sally E., Sheridan, Eamonn, Thompson, Pamela, Hoffmann, Per, Nöthen, Markus M., Mühleisen, Thomas W., Eisele, Lewin, Zimmermann, Martin, Bartram, Claus R., Schrappe, Martin, Greaves, Mel, Stanulla, Martin, Hemminki, Kari, Houlston, Richard S.

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes von Harris, Erica L., Roy, Vincent, Montagne, Martin, Rose, Ailsa M.S., Livesey, Helen, Reijnders, Margot R.F., Hobson, Emma, Sansbury, Francis H., Willemsen, Marjolein H., Pfundt, Rolph, Warren, Daniel, Long, Vernon, Carr, Ian M., Brunner, Han G., Sheridan, Eamonn G., Firth, Helen V., Lavigne, Pierre, Poulter, James A.

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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia von Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.

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Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia von Vijayakrishnan, Jayaram, Studd, James, Broderick, Peter, Kinnersley, Ben, Holroyd, Amy, Law, Philip J., Kumar, Rajiv, Allan, James M., Harrison, Christine J., Moorman, Anthony V., Vora, Ajay, Roman, Eve, Rachakonda, Sivaramakrishna, Kinsey, Sally E., Sheridan, Eamonn, Thompson, Pamela D., Irving, Julie A., Koehler, Rolf, Hoffmann, Per, Nöthen, Markus M., Heilmann-Heimbach, Stefanie, Jöckel, Karl-Heinz, Easton, Douglas F., Pharaoh, Paul D. P., Dunning, Alison M., Peto, Julian, Canzian, Frederico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, Greaves, Mel, Zimmerman, Martin, Bartram, Claus R., Schrappe, Martin, Stanulla, Martin, Hemminki, Kari, Houlston, Richard S.

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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans von Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.

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Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk von Gast, Andreas, Kinsey, Sally E, Roman, Eve, Schrappe, Martin, Koeffler, H Phillip, Hosking, Fay J, Stanulla, Martin, Sinnett, Daniel, Harrison, Christine J, Vijayakrishnan, Jayaram, Dobbins, Sara E, Houlston, Richard S, Zimmermann, Martin, Erdelyi, Daniel J, Bartram, Claus R, Richards, Sue, Neira, Anna Gonzalez, Ogawa, Seishi, Healy, Jasmine, Hemminki, Kari, Papaemmanuil, Elli, Kawamata, Norihiko, Semsei, Ágnes F, Irving, Julie A E, Sherborne, Amy L, Kumar, Rajiv, Ma, Yussanne, Moorman, Anthony V, Greaves, Mel, Lightfoot, Tracey, Koehler, Rolf, Prasad, Rashmi B, Taylor, Malcolm, Szalai, Csaba, Sheridan, Eamonn, Allan, James M, Tomlinson, Ian P, Krajinovic, Maja

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain von Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David

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Mutations in the transcriptional repressor REST predispose to Wilms tumor von Mahamdallie, Shazia S, Hanks, Sandra, Karlin, Kristen L, Zachariou, Anna, R Perdeaux, Elizabeth, Ruark, Elise, Shaw, Chad A, Renwick, Alexander, Ramsay, Emma, Yost, Shawn, Elliott, Anna, Birch, Jillian, Capra, Michael, Gray, Juliet, Hale, Juliet, Kingston, Judith, Levitt, Gill, McLean, Thomas, Sheridan, Eamonn, Renwick, Anthony, Seal, Sheila, Stiller, Charles, Sebire, Neil, Westbrook, Thomas F, Rahman, Nazneen

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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis von Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey

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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome von Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T

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Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole von Hayward, Bruce E, De Vos, Michel, Talati, Nargese, Abdollahi, M. Reza, Taylor, Graham R, Meyer, Esther, Williams, Denise, Maher, Eamonn R, Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn, Bonthron, David T

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