A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

- Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, Goel, Himanshu

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

- Ng, Bobby G., Shiryaev, Sergey A., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Rymen, Daisy, Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, Eklund, Erik A., James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Raymond, Kimiyo, Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarillis, Vilain, Eric, Kircher, Martin, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H., University of Washington Center for Mendelian Genomics, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J.

Association of pro/anti-infl ammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels

- Manchanda, Parmeet Kaur, Kumar, Anant, Sharma, Raj K., Goel, Himanshu, Mittal, Rama Devi

Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility

- Goel, Himanshu, Dudding, Tracy

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

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.

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

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

- Wolfe, Kate, McQuillin, Andrew, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca-Boidron, Anne-Laura, Novelli, Antonio, Olivier-Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Alesi, Viola, Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clemence, Strydom, Andre, Skuse, David, Bass, Nick, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux-Coeslier, Anne, Duban-Bedu, Benedicte, Duelund Hjortshøj, Tina

DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency

- Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sacha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, 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.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu

Expansion of phenotype of DDX3X syndrome: six new cases

- Beal, Bryony, Hayes, Ian, Mcgaughran, Julie, Amor, David J., Miteff, Christina, Jackson, Victoria, van Reyk, Olivia, Subramanian, Gopinath, Hildebrand, Michael S., Morgan, Angela T., Goel, Himanshu

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

- Shimojima, Keiko, Okamoto, Nobuhiko, Goel, Himanshu, Ondo, Yumiko, Yamamoto, Toshiyuki

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

Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans

- Mandrile, Giorgia, Di Gregorio, Eleonora, Goel, Himanshu, Giachino, Daniela, De Mercanti, Stefania, Iudicello, Marco, Rolando, Marco, Losa, Sabrina, De Marchi, Mario, Brusco, Alfredo

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

Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major

- Goel, Himanshu, Girisha, K. M., Phadke, Shubha

Mandibulofacial dysostosis with microcephaly: mutation and database update

- Huang, Lijia, Vanstone, Megan R., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hartley, Taila, Hunter, Alasdair G. W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antoine D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Osmond, Matthew, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E. V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Barrowman, Nick, Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Allanson, Judith, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A., Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B.

Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish

- Van De Weghe, Julie C., Rusterholz, Tamara D. S., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., University of Washington Center for Mendelian Genomics,, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephen C. F., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

- Jenkinson, Emma M., Rodero, Mathieu P., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Kasher, Paul R., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Uggenti, Carolina, Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Oojageer, Anthony, Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Goosey, Laurence C., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rose, Yoann, Rice, Gillian I., Revy, Patrick, van der Knaap, Margo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J., Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G.