Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca
- Creator: Goel, Himanshu , O'Donnell, Sheridan , Roscioli, Tony , Hart, Francesca
- Resource Type: journal article
- Date: 2024
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
- Creator: 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
- Resource Type: journal article
- Date: 2024
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
- Creator: 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
- Resource Type: journal article
- Date: 2023
- Creator: 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
- Resource Type: journal article
- Date: 2023
- 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.
- Creator: 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.
- Resource Type: journal article
- Date: 2023
- 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
- Creator: 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
- Resource Type: journal article
- Date: 2023
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
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
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
- Creator: 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
- Resource Type: journal article
- Date: 2023
- 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
- Creator: 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
- Resource Type: journal article
- Date: 2022
- 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
- Creator: 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
- Resource Type: journal article
- Date: 2022
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
- Creator: 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
- Resource Type: journal article
- Date: 2022
- 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
- Creator: 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
- Resource Type: journal article
- Date: 2022
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
- Creator: 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
- Resource Type: journal article
- Date: 2021
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
- Creator: 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
- Resource Type: journal article
- Date: 2020
- 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
- Creator: 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
- Resource Type: journal article
- Date: 2020
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.
- Creator: Willemsen, Marjolein H. , Goel, Himanshu , Verhoeven, Judith S. , Braakman, Hilde M. H. , de Leeuw, Nicole , Freeth, Alison , Minassian, Berge A.
- Resource Type: journal article
- Date: 2020
- Creator: Willemsen, Marjolein H. , Goel, Himanshu , Verhoeven, Judith S. , Braakman, Hilde M. H. , de Leeuw, Nicole , Freeth, Alison , Minassian, Berge A.
- Resource Type: journal article
- Date: 2020
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
- Creator: Goldsmith, Heidi , Wells, Anna , Sá, Maria J. N. , Williams, Mark , Heussler, Helen , Buckman, Melissa , Pfundt, Rolph , de Vries, Bert B. A. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
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
- Creator: 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
- Resource Type: journal article
- Date: 2019
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
- Creator: 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
- Resource Type: journal article
- Date: 2018
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
- Creator: 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
- Resource Type: journal article
- Date: 2018
- Creator: 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
- Resource Type: journal article
- Date: 2018
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly
- Shimojima, Keiko, Okamoto, Nobuhiko, Goel, Himanshu, Ondo, Yumiko, Yamamoto, Toshiyuki
- Creator: Shimojima, Keiko , Okamoto, Nobuhiko , Goel, Himanshu , Ondo, Yumiko , Yamamoto, Toshiyuki
- Resource Type: journal article
- Date: 2017