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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 Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disordersBanu, Sofia; Mk, Kanakavalli; George, Joel Kiran; Siby, Elizabeth; Bhagat, Rakeshpal; Ms, Sreelekshmi; Patil, Siddaramappa J.; Phadke, Shubha R.; Sowpati, Divya Tej; Tallapaka, Karthik Bharadwaj 分享 收藏 Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from IndiaVarshney, 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 Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency印度酸性鞘磷脂酶缺乏症患者SMPD1新变体的功能表征Deshpande, Dipti; Gupta, Shailesh Kumar; Sarma, Asodu Sandeep; Ranganath, Prajnya; Jain, Jamal Md Nurul S.; Sheth, Jayesh; Mistri, Mehul; Gupta, Neerja; Kabra, Madhulika; Phadke, Shubha R.; Girisha, Katta M.; Puri, Ratna Dua; Aggarwal, Shagun; Datar, Chaitanya; Mandal, Kausik; Tilak, Preetha; Muranjan, Mamta; Bijarnia-Mahay, Sunita; Devi, Radha Rama A.; Tayade, Naresh B.; Ranjan, Akash; Dalal, Ashwin B. 分享 收藏 Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric ExperienceSuri, Deepti; Rawat, Amit; Jindal, Ankur Kumar; Vignesh, Pandiarajan; Gupta, Anju; Pilania, Rakesh Kumar; Joshi, Vibhu; Arora, Kanika; Kumrah, Rajni; Anjani, Gummadi; Aggarwal, Amita; Phadke, Shubha; Aboobacker, Fouzia N.; George, Biju; Edison, Eunice Sindhuvi; Desai, Mukesh; Taur, Prasad; Gowri, Vijaya; Pandrowala, Ambreen Abdulwahab; Bhattad, Sagar; Kanakia, Swati; Gottorno, Marco; Ceccherini, Isabella; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Hershfield, Michael S.; Singh, Surjit 分享 收藏 A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians源自1455个临床和研究外显子组的变异数据集可有效地对印度人的早发性单基因疾病进行变异优先排序Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Bhowmik, Aneek Das; Moirangthem, Amita; Bijarnia-Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, Katta M. 分享 收藏 Hypomorphic Mutations in TONSL Cause SPONASTRIME DysplasiaChang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; Makitie, Outi; Valta, Helena; Girisha, Katta M.; Lee, Chung; Neethukrishna, Kausthubham; Bhavani, Gandham S.; Shukla, Anju; Nampoothiri, Sheela; Phadkei, Shubha R.; Park, Mi Jung; Ikegawa, Shiro; Wang, Zheng; Higgs, Martin R.; Stewart, Grant S.; Jung, Eunyoung; Lee, Myeong-Sok; Park, Jong Hoon; Lee, Eun A.; Kim, Hongtae; Myung, Kyungjae; Jeon, Woosung; Lee, Kyoungyeul; Kim, Dongsup; Kim, Ok-Hwa; Choi, Murim; Lee, Han-Woong; Kim, Yonghwan; Cho, Tae-Joon 分享 收藏 Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesBruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-Francois; Doummar, Diane; Giles, Rachel H.; Johnson, Colin A.; Huynen, Martijn A.; Chevrier, Veronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Genevieve; Doray, Berenice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesus; Aral, Bernard; Gigot, Nadege; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R.; Cormier-Daire, Valerie; Eguether, Thibaut; Pazour, Gregory J.; Herranz-Perez, Vicente; Goldstein, Jaclyn S.; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Megarbane, Andre; Rosnet, Olivier; Leroux, Michel R.; Wallingford, John B.; Blacque, Oliver E.; Nachury, Maxence V.; Attie-Bitach, Tania; Riviere, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel 分享 收藏 分享 收藏 分享 收藏 Prenatal diagnosis in India is not limited to sex selectionDalal, Ashwin B.; Ranganath, Prajnya; Phadke, Shubha R.; Kabra, Madhulika; Danda, Sumita; Puri, Ratna Dua; Sankar, V. H.; Gupta, Neerja; Patil, S. J.; Mandal, Kausik; Tamhankar, Parag; Aggarwal, Shagun; Agarwal, Meenal 分享 收藏 De novo SOX11 mutations cause Coffin-Siris syndromeTsurusaki, Yoshinori; Koshimizu, Eriko; Ohashi, Hirofumi; Phadke, Shubha; Kou, Ikuyo; Shiina, Masaaki; Suzuki, Toshifumi; Okamoto, Nobuhiko; Imamura, Shintaro; Yamashita, Michiaki; Watanabe, Satoshi; Yoshiura, Koh-ichiro; Kodera, Hirofumi; Miyatake, Satoko; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Ikegawa, Shiro; Miyake, Noriko; Matsumoto, Naomichi 分享 收藏 
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