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
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
- 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
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
- 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.
- Creator: 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.
- Resource Type: journal article
- Date: 2017
- 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
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
- 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
- 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
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.
- Creator: 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.
- Resource Type: journal article
- Date: 2016
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
- McClelland, Jessie, Burgess, Bronwyn, Crock, Patricia, Goel, Himanshu
- Creator: McClelland, Jessie , Burgess, Bronwyn , Crock, Patricia , Goel, Himanshu
- Resource Type: journal article
- Date: 2016
- Mandrile, Giorgia, Di Gregorio, Eleonora, Goel, Himanshu, Giachino, Daniela, De Mercanti, Stefania, Iudicello, Marco, Rolando, Marco, Losa, Sabrina, De Marchi, Mario, Brusco, Alfredo
- Creator: Mandrile, Giorgia , Di Gregorio, Eleonora , Goel, Himanshu , Giachino, Daniela , De Mercanti, Stefania , Iudicello, Marco , Rolando, Marco , Losa, Sabrina , De Marchi, Mario , Brusco, Alfredo
- Resource Type: journal article
- Date: 2016
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
- Creator: Manchanda, Parmeet Kaur , Kumar, Anant , Sharma, Raj K. , Goel, Himanshu , Mittal, Rama Devi
- Resource Type: journal article
- Date: 2008
- Creator: Manchanda, Parmeet Kaur , Kumar, Anant , Sharma, Raj K. , Goel, Himanshu , Mittal, Rama Devi
- Resource Type: journal article
- Date: 2008
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
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
- 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.
- Creator: 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.
- Resource Type: journal article
- Date: 2016
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
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.
- Creator: 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.
- Resource Type: journal article
- Date: 2015
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