Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- 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
- 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
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
- Creator: 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.
- Resource Type: journal article
- Date: 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Creator: 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
- 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
- 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
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- 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
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
- 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
- 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
- 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
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
- 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
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
- 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
- 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
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
- 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
- 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
- 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
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
- 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
- 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
- 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
- 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
- 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