HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features by Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

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Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency by Almalki, Abdulraheem, Alston, Charlotte L., Parker, Alasdair, Simonic, Ingrid, Mehta, Sarju G., He, Langping, Reza, Mojgan, Oliveira, Jorge M.A., Lightowlers, Robert N., McFarland, Robert, Taylor, Robert W., Chrzanowska-Lightowlers, Zofia M.A.

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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D by McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Earl, Dawn L., Jagadeesh, Sujatha, Mehta, Sarju G., Robertson, Stephen P., Swanson, James M., Faustman, Elaine M., Mefford, Heather C., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases by Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah

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SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis by El-Gazzar, Ahmed, Kang, Heeseog, Fratzl-Zelman, Nadja, Webb, Emma, Barnes, Aileen M., Jovanovic, Milena, Mehta, Sarju G., Datta, Vipan, Saraff, Vrinda, Dale, Ryan K., Rauch, Frank, Marini, Joan C., Högler, Wolfgang

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Genetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders by Vittay, Orsolya, Christopher, Joseph, Mehta, Sarju G, Toms, Andoni P

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Mutant valosin-containing protein causes a novel type of frontotemporal dementia by Schröder, Rolf, Watts, Giles D. J., Mehta, Sarju G., Evert, Bernd O., Broich, Petra, Fließbach, Klaus, Pauls, Katharina, Hans, Volkmar H., Kimonis, Virginia, Thal, Dietmar R.

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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease by Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês A., Deshpande, Charu, Chitre, Manali, Mehta, Sarju G., Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten G., Chao, Katherine R., Cai, Chunyu, Iannaccone, Susan T., Dean, Andrew F., McFarland, Robert, Vaz, Frédéric M., Delahodde, Agnès, Taylor, Robert W., Rötig, Agnès

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Quantifying the contribution of recessive coding variation to developmental disorders by 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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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders by Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons by Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

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Detection of structural mosaicism from targeted and whole-genome sequencing data by King, Daniel A, Sifrim, Alejandro, Fitzgerald, Tomas W, Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G, Shehla, Mohammed, Tomkins, Susan E, Vasudevan, Pradeep C, Hurles, Matthew E

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance by Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity by Josifova, Dragana J, Monroe, Glen R, Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G, Harakalova, Magdalena, Duran, Karen J, Savelberg, Sanne M C, Nijman, Isaäc J, Jungbluth, Heinz, Hoogenraad, Casper C, Bakkers, Jeroen, Knoers, Nine V, Firth, Helen V, Beales, Philip L, van Haaften, Gijs, van Haelst, Mieke M

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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum by Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum by Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, Cordelli, Duccio M, Burca, Anna, Demic, Natasha, Desguerre, Isabelle, De Waele, Liesbeth, Di Fonzo, Alessio, Dunham, S. Richard, Dyack, Sarah, Elmslie, Frances, Ferrand, Mickaël, Fisher, Gemma, Karimiani, Ehsan Ghayoor, Ghoumid, Jamal, Gibbon, Frances, Goel, Himanshu, Hilmarsen, Hilde T, Hughes, Imelda, Jacob, Anu, Jones, Elizabeth A, Kumar, Ram, Leventer, Richard J, MacDonald, Shelley, Maroofian, Reza, Mehta, Sarju G, Metz, Imke, Monfrini, Edoardo, Neumann, Daniela, Noetzel, Michael, O'Driscoll, Mary, Õunap, Katrin, Panzer, Axel, Parikh, Sumit, Prabhakar, Prab, Ramond, Francis, Sandford, Richard, Saneto, Russell, Soh, Calvin, Stutterd, Chloe A, Subramanian, Gopinath M, Talbot, Kevin, Thomas, Rhys H, Toro, Camilo, Touraine, Renaud, Wakeling, Emma, Wassmer, Evangeline, Whitney, Andrea, Livingston, John H, O'Keefe, Raymond T, Badrock, Andrew P

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The spectrum of 4q- syndrome illustrated by a case series by Strehle, Eugen-Matthias, Gruszfeld, Dariusz, Schenk, Daniel, Mehta, Sarju G., Simonic, Ingrid, Huang, Taosheng

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Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients by Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh

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