Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant

- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

- Meester, Josephina A. N., Hebert, Anne, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Bastiaansen, Maaike, Oakley, Stephen P., Houweling, AC, Isidor, B, Jackson, N, Koopman, P, Korpioja, A, Kraatari-Tiri, M, Kuulavainen, L, Lee, K, Low, KJ, Rabaut, Laura, Lu, AC, McManus, ML, Oakley, SP, Oliver, J, Organ, NM, Overwater, E, Revencu, N, Trainer, AH, Trivedi, B, Turner, CLS, Bastianen, Jarl, Whittington, R, Zankl, A, Zentner, D, Van Laer, L, Verstraeten, A, Loeys, BL, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

- Clara-Hwang, Angela, Stefani, Stefani, Zara, Federico, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju, Guliyeva, Ulviyya, Montavont, Alexandra, Poulat, Anne-Lise, Güleç, Ayten, Berger, Colette, Ville, Dorothee M., de Bellescize, Julitta, Lau, Tracy, Cabet, Sara, Wonneberger, A, Schulz, A, Rodriguez-Palmero, A, Chatron, N, Lesca, G, Per, H, Goel, Himanshu, Brown, J, Frey, T, Scala, Marcello, Steindl, K, Rauch, A, Severino, M, Houlden, H, Nicolaides, P, Striano, P, Efthymiou, S, Aynekin, Busra, Bernardo, Pia, Madia, Francesca, Bakhtadze, Sophia, Kaiyrzhanov, Rauan, Maroofian, Reza

MicroRNA and Rare Human Diseases

- Goel, Himanshu, Goel, Amy

MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation

- Chodisetty, Swathi, Arora, Aditi, Malik, Kausika Kumar, Goel, Himanshu, Tyagi, Shweta

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

- Forbes, Elana J., Morison, Lottie D., Morgan, Angela T., Lelik, Fatma, Howell, Tegan, Debono, Simone, Goel, Himanshu, Burger, Pauline, Mandel, Jean-Louis, Geneviève, David, Amor, David J.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

- Furia, Francesca, Levy, Amanda M., Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos-Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Theunis, Miel, Redon, Sylvia, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, JJ, Tao, AM, Thiffault, I, Van Esch, H, Wentzensen, IM, Bamshad, Michael J., Barakat, TS, Møller, RS, Gomez-Puertas, P, Chung, WK, Gardella, E, Tümer, Z, Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

- Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalie T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M., Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

- Francis, David I., Stark, Zornitza, Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Scheffer, Ingrid E., Hackett, Anna, Ayres, S, Lunke, S, Kalitsis, P, Wall, M, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

- Peluso, Francesca, Caraffi, Stefano G., Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T., Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Contrò, Gianluca, Dyment, David A., Farholt, Stense, Ferreira, Carlos R., Wolfe, Lynne A., Gahl, William A., Gnazzo, Maria, Goel, Himanshu, Gronborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Valeri, Lara, Kleefstra, Tjitske, Koolen, David A., Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F., Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Napoli, Manuela, Novelli, Antonio, Ockeloen, Charlotte W., Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P., Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T., Carboni, Giorgia, Goel, Amy, Taylor, Juliet M., Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Seth, Alka, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

- Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding-Byth, Tracy

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

- Van Haute, Lindsey, O’Connor, Emily, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, NikeishaJ, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Díaz-Maldonado, Hector, Murphy, D, Nandeesh, B, Olimpio, C, Powell, CA, Preethish-Kumar, V, Procaccio, V, Rius, R, Rebelo-Guiomar, P, Simons, C, Vengalil, S, Munro, Benjamin, Zaki, MS, Ziegler, A, Thorburn, DR, Stroud, DA, Maroofian, R, Christodoulou, J, Gustafsson, C, Nalini, A, Lochmüller, H, Minczuk, M, Polavarapu, Kiran, Horvath, R, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

- Sy, Mary R., Chauhan, Jaynee, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Veronique, Vieville, Gaelle, Donaldson, Alan, Prescott, Katrina, Beneteau, C, Ghoumid, J, Van den Bogaert, K, Boogaerts, A, Boudry, E, Vanlerberghe, C, Petit, F, Bernardini, L, Torres, B, Mattina, T, Imam, Aliza, Carli, D, Mandrile, G, Pinelli, M, Brunetti-Pierri, N, Neas, K, Beddow, R, Torring, PM, Faletra, F, Spedicati, B, Gasparini, P, Kraus, Alison, Mussa, A, Ferrero, GB, Lampe, A, Lam, W, Bi, W, Bacino, CA, Kuwahara, A, Bush, JO, Zhao, X, Luna, PN, Beleza, Ana, Shaw, CA, Rosenfeld, JA, Scott, DA, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

- Seiffert, Simone, Pendziwiat, Manuela, Hedrich, Ulrike Barbara Stefanie, Helbig, Ingo, Weber, Yvonne, Bierhals, Tatjana, Goel, Himanshu, Schwarz, Niklas, van der Ven, Amelie, Boßelmann, Christian Malte, Lemke, Johannes, Syrbe, Steffen, Willemsen, Marjolein Hanna

OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum

- Celse, Tristan, Tingaud-Sequeira, Angèle, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Zander, Cecilia Soussi, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Van Kien, Philippe Khau, Godin, Manon, Dieterich, Klaus, Gruchy, Nicolas, Goel, Himanshu, Palmer, E, Demetriou, K, Shalhoub, C, Rooryck-Thambo, C, Coutton, C, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

- Bournazos, Adam M., Riley, Lisa G., Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Bommireddipalli, Shobhana, Donaldson, L, Downie, L, Edwards, C, Edwards, M, Engel, A, Ewans, LJ, Faiz, F, Fennell, A, Field, M, Freckmann, ML, Ades, Lesley, Gallacher, L, Gear, R, Goel, Himanshu, Goh, S, Goodwin, L, Hanna, B, Harraway, J, Higgins, M, Ho, G, Hopper, BK, Akesson, Lauren S., Horton, AE, Hunter, MF, Huq, AJ, Josephi-Taylor, S, Joshi, H, Kirk, E, Krzesinski, E, Kumar, KR, Lemckert, F, Leventer, RJ, Al-Shinnag, Mohammad, Lindsey-Temple, SE, Lunke, S, Ma, A, Macaskill, S, Mallawaarachchi, A, Marty, M, Marum, JE, McCarthy, HJ, Menezes, MP, McLean, A, Alexander, Stephen I., Milnes, D, Mohammad, S, Mowat, D, Niaz, A, Palmer, EE, Patel, C, Patel, SG, Phelan, D, Pinner, JR, Rajagopalan, S, Archibald, Alison D., Regan, M, Rodgers, J, Rodrigues, M, Roxburgh, RH, Sachdev, R, Roscioli, T, Samarasekera, R, Sandaradura, SA, Savva, E, Schindler, T, Balasubramaniam, Shanti, Shah, M, Sinnerbrink, IB, Smith, JM, Smith, RJ, Springer, A, Stark, Z, Strom, SP, Sue, CM, Tan, K, Tan, TY, Berman, Yemima, Tantsis, E, Tchan, MC, Thompson, BA, Trainer, AH, van Spaendonck-Zwarts, K, Walsh, R, Warwick, L, White, S, White, SM, Williams, MG

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

- Crow, Yanick J., Marshall, Heather, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk-Him, Chiang, Diana, Clifford, David B., Cordelli, Duccio M., Rice, Gillian I., Goel, Himanshu, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Seabra, Luis, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, Jenkinson, Emma M., MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Baranano, Kristin, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Battini, Roberta, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

- Huynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew J., Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M., Ponlot, Eleonore, Kribs, Marc

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

- Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.