De novo mutations in regulatory elements in neurodevelopmental disorders von Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.

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A Mendelian Trait for Olfactory Sensitivity Affects Odor Experience and Food Selection von Jaeger, Sara R., McRae, Jeremy F., Bava, Christina M., Beresford, Michelle K., Hunter, Denise, Jia, Yilin, Chheang, Sok Leang, Jin, David, Peng, Mei, Gamble, Joanna C., Atkinson, Kelly R., Axten, Lauren G., Paisley, Amy G., Tooman, Leah, Pineau, Benedicte, Rouse, Simon A., Newcomb, Richard D.

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Pathogenicity and selective constraint on variation near splice sites von Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome von McRae, Jeremy F., Jaeger, Sara R., Bava, Christina M., Beresford, Michelle K., Hunter, Denise, Jia, Yilin, Chheang, Sok Leang, Jin, David, Peng, Mei, Gamble, Joanna C., Atkinson, Kelly R., Axten, Lauren G., Paisley, Amy G., Williams, Liam, Tooman, Leah, Pineau, Benedicte, Rouse, Simon A., Newcomb, Richard D.

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Predicting Splicing from Primary Sequence with Deep Learning von Jaganathan, Kishore, Kyriazopoulou Panagiotopoulou, Sofia, McRae, Jeremy F., Darbandi, Siavash Fazel, Knowles, David, Li, Yang I., Kosmicki, Jack A., Arbelaez, Juan, Cui, Wenwu, Schwartz, Grace B., Chow, Eric D., Kanterakis, Efstathios, Gao, Hong, Kia, Amirali, Batzoglou, Serafim, Sanders, Stephan J., Farh, Kyle Kai-How

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Predicting the clinical impact of human mutation with deep neural networks von Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How

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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders von Wright, Caroline F, McRae, Jeremy F, Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W, Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V

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Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations von Kaplanis, Joanna, Akawi, Nadia, Gallone, Giuseppe, McRae, Jeremy F, Prigmore, Elena, Wright, Caroline F, Fitzpatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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Genetic Variation in the Odorant Receptor OR2J3 Is Associated with the Ability to Detect the Grassy Smelling Odor, cis-3-hexen-1-ol von MCRAE, Jeremy F, MAINLAND, Joel D, JAEGER, Sara R, ADIPIETRO, Kaylin A, MATSUNAMI, Hiroaki, NEWCOMB, Richard D

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Author Correction: Predicting the clinical impact of human mutation with deep neural networks von Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How

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A preliminary investigation into a genetic basis for cis-3-hexen-1-ol odour perception: A genome-wide association approach von Jaeger, Sara R., McRae, Jeremy F., Salzman, Yael, Williams, Liam, Newcomb, Richard D.

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Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome von McRae, Jeremy F., Jaeger, Sara R., Bava, Christina M., Beresford, Michelle K., Hunter, Denise, Jia, Yilin, Chheang, Sok Leang, Jin, David, Peng, Mei, Gamble, Joanna C., Atkinson, Kelly R., Axten, Lauren G., Paisley, Amy G., Williams, Liam, Tooman, Leah, Pineau, Benedicte, Rouse, Simon A., Newcomb, Richard D.

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Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome von McRae, Jeremy F., Jaeger, Sara R., Bava, Christina M., Beresford, Michelle K., Hunter, Denise, Jia, Yilin, Chheang, Sok Leang, Jin, David, Peng, Mei, Gamble, Joanna C., Atkinson, Kelly R., Axten, Lauren G., Paisley, Amy G., Williams, Liam, Tooman, Leah, Pineau, Benedicte, Rouse, Simon A., Newcomb, Richard D.

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Prevalence and architecture of de novo mutations in developmental disorders von 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

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data von Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Quantifying the contribution of recessive coding variation to developmental disorders von Martin, Hilary C, Jones, Wendy D, McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D, Jones, Carla P, Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Bassett, Andrew, Gerety, Sebastian S, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders von 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.

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von 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.

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia von 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.

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