Genetic disorders with heterotopic ossificans

by Sankar, Ruthiramurthy, Gowrishankar, Kalpana, Viswanathan, Saraswati
Published in Indian J Orthop (2015)

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association

by Kumar, Jeevan M., Gowrishankar, Kalpana, Vasanthi, T., Kumar, R. Ashok, Jayasudha, T.
Published 2011

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

by Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
Published in Genes (Basel) (2021)

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

by Athota, Jeevana Praharsha, Bhat, Meenakshi, Nampoothiri, Sheela, Gowrishankar, Kalpana, Narayanachar, Sanjeeva Ghanti, Puttamallesh, Vinuth, Farooque, Mohammed Oomer, Shetty, Swathi
Published in BMC Med Genet (2020)

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

by Hu, Ying, Chen, I-Ping, de Almeida, Salome, Tiziani, Valdenize, Do Amaral, Cassio M. Raposo, Gowrishankar, Kalpana, Passos-Bueno, Maria Rita, Reichenberger, Ernst J.
Published 2013

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ h...

by Mohan, Shruthi, Koshy, Teena, Vekatachalam, Perumal, Nampoothiri, Sheela, Yesodharan, Dhanya, Gowrishankar, Kalpana, Kumar, Jeevan, Ravichandran, Latha, Joseph, Santhosh, Chandrasekaran, Anupama, Paul, Solomon F. D.
Published in Indian J Med Res (2016)

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

by Guo, Long, Iida, Aritoshi, Bhavani, Gandham SriLakshmi, Gowrishankar, Kalpana, Wang, Zheng, Xue, Jing-yi, Wang, Juan, Miyake, Noriko, Matsumoto, Naomichi, Hasegawa, Takanori, Iizuka, Yusuke, Matsuda, Masashi, Nakashima, Tomoki, Takechi, Masaki, Iseki, Sachiko, Yambe, Shinsei, Nishimura, Gen, Koseki, Haruhiko, Shukunami, Chisa, Girisha, Katta M., Ikegawa, Shiro
Published in Nat Commun (2021)

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

by Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D’Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Published in Am J Med Genet A (2015)