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Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S. J.; Soni, J. P.; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V.; Kamath, Nutan; Shenoy, Rathika D.; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R.; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M. 分享 收藏
Inferring disease course from differential exon usage in the wide titinopathy spectrum Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco 分享 收藏
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre Sheth, Jayesh; Nair, Aadhira; Sheth, Frenny; Ajagekar, Manali; Dhondekar, Tejasvi; Panigrahi, Inusha; Bavdekar, Ashish; Nampoothiri, Sheela; Datar, Chaitanya; Gandhi, Ajit; Muranjan, Mamta; Kaur, Anupriya; Desai, Manisha; Mistri, Mehul; Patel, Chitra; Naik, Premal; Shah, Maulin; Godbole, Koumudi; Kapoor, Seema; Gupta, Neerja; Bijarnia-Mahay, Sunita; Kadam, Sandeep; Solanki, Dhaval; Desai, Soham; Iyer, Anand; Patel, Ketan; Patel, Harsh; Shah, Raju C.; Mehta, Shalmi; Shah, Ruchi; Bhavsar, Riddhi; Shah, Jhanvi; Pandya, Mili; Patel, Bhagyadhan; Shah, Sudhir; Shah, Heli; Shah, Shalin; Bajaj, Shruti; Shah, Siddharth; Thaker, Nilam; Kalane, Umesh; Kamate, Mahesh; Kn, Vykunta Raju; Tayade, Naresh; Jagadeesan, Sujatha; Jain, Deepika; Chandarana, Mitesh; Singh, Jitendra; Mehta, Sanjiv; Suresh, Beena; Sheth, Harsh 分享 收藏
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy Riley, Lisa G.; Sabui, Subrata; Said, Hamid M.; Niaz, Aram; Girisha, Katta M.; Radhakrishnan, Periyasamy; Nampoothiri, Sheela; Yesodharan, Dhanya; Kilo, Tatjana; Smith, Janine; Wong, Rachel S. H.; Menezes, Manoj P.; Gupta, Sachin; Cooper, Sandra T.; Balasubramaniam, Shanti 分享 收藏
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India Sheth, Harsh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K.; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C.; Iyer, Anand; Bijarnia, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Gandhi, Ajit; Sowani, Ajit; Kale, Shrutikaa; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Mane, Shrikant; Prabha, C. Ratna; Sheth, Frenny; Joshi, Chaitanya G.; Joshi, Madhvi; Sheth, Jayesh 分享 收藏
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Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families Kittaka, Mizuho; Mizuno, Noriyoshi; Morino, Hiroyuki; Yoshimoto, Tetsuya; Zhu, Tianli; Liu, Sheng; Wang, Ziyi; Mayahara, Kotoe; Iio, Kyohei; Kondo, Kaori; Kondo, Toshio; Hayashi, Tatsuhide; Coghlan, Sarah; Teno, Yayoi; Doan, Andrew Anh Phung; Levitan, Marcus; Choi, Roy B.; Matsuda, Shinji; Ouhara, Kazuhisa; Wan, Jun; Cassidy, Annelise M.; Pelletier, Stephane; Nampoothiri, Sheela; Urtizberea, Andoni J.; Robling, Alexander G.; Ono, Mitsuaki; Kawakami, Hideshi; Reichenberger, Ernst J.; Ueki, Yasuyoshi 分享 收藏
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth Harms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Huseyin; Gulec, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin 分享 收藏
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C.; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B. L.; Patil, Siddaramappa J.; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat, Ramesh Y.; Lewis, Leslie E.; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S.; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju 分享 收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo 分享 收藏
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis Adamo, Christin S.; Beyens, Aude; Schiavinato, Alvise; Keene, Douglas R.; Tufa, Sara F.; Morgelin, Matthias; Brinckmann, Jurgen; Sasaki, Takako; Niehoff, Anja; Dreiner, Maren; Pottie, Lore; Muino-Mosquera, Laura; Gulec, Elif Yilmaz; Gezdirici, Alper; Braghetta, Paola; Bonaldo, Paolo; Wagener, Raimund; Paulsson, Mats; Bornaun, Helen; De Rycke, Riet; De Bruyne, Michiel; Baeke, Femke; Devine, Walter P.; Gangaram, Balram; Tam, Allison; Balasubramanian, Meena; Ellard, Sian; Moore, Sandra; Symoens, Sofie; Shen, Joseph; Cole, Stacey; Schwarze, Ulrike; Holmes, Kathryn W.; Hayflick, Susan J.; Wiszniewski, Wojciech; Nampoothiri, Sheela; Davis, Elaine C.; Sakai, Lynn Y.; Sengle, Gerhard; Callewaert, Bert 分享 收藏
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Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms Colman, Marlies; Vroman, Robin; Dhooge, Tibbe; Malfait, Zoe; Symoens, Sofie; Burnyte, Birute; Nampoothiri, Sheela; Kariminejad, Ariana; Malfait, Fransiska; Syx, Delfien 分享 收藏
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss Vona, B.; Schwartzbaum, D. A.; Rodriguez, A. A.; Lewis, S. S.; Toosi, M. B.; Radhakrishnan, P.; Bozan, N.; Akin, R.; Doosti, M.; Manju, R.; Duman, D.; Sineni, C. J.; Nampoothiri, S.; Karimiani, E. G.; Houlden, H.; Bademci, G.; Tekin, M.; Girisha, K. M.; Maroofian, R.; Douzgou, S. 分享 收藏
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India Varshney, Kruti; Narayanachar, Sanjeeva Ghanti; Girisha, Katta M.; Bhavani, Gandham SriLakshmi; Narayanan, Dhanyalakshmi; Phadke, Shubha; Nampoothiri, Sheela; Udupi, Gautham Arunachal; Raghupathy, Palany; Nair, Mohandas; Geetha, Thenral S.; Bhat, Meenakshi 分享 收藏
GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity Paschall, Anna; Mavis, Alisha; Rikhi, Aruna; Sood, Vikrant; Porta, Gilda; Nampoothiri, Sheela; Gupta, Neerja; Abdenur, Jose; Muir, Andrew; Kishnani, Priya 分享 收藏
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