K
Kalpana Gowrishankar
Researcher at Boston Children's Hospital
Publications - 25
Citations - 770
Kalpana Gowrishankar is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Missense mutation & Frameshift mutation. The author has an hindex of 10, co-authored 23 publications receiving 579 citations.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Ashwin Dalal,Sri Lakshmi Bhavani G,Padma Priya Togarrati,Tatjana Bierhals,Madhusudan R. Nandineni,Sumita Danda,Debashish Danda,Hitesh Shah,Sandeep Vijayan,Kalpana Gowrishankar,Shubha R. Phadke,Abdul Mueed Bidchol,Anand Prahalad Rao,Sheela Nampoothiri,Kerstin Kutsche,Katta M. Girisha +15 more
TL;DR: Clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia are reported and one missense mutation appears to be the most common in this population being seen in 10 unrelated families.
Journal ArticleDOI
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
Abdul Mueed Bidchol,Ashwin Dalal,Hitesh Shah,Suryanarayana S,Sheela Nampoothiri,Madhulika Kabra,Neerja Gupta,Sumita Danda,Kalpana Gowrishankar,Shubha R. Phadke,Seema Kapoor,Mahesh Kamate,I. C. Verma,Ratna Dua Puri,V.H. Sankar,A. Radha Rama Devi,S.J. Patil,Prajnya Ranganath,Prajnya Ranganath,S Jamal Md Nurul Jain,Meenal Agarwal,Ankur Singh,Pallavi Mishra,Parag M Tamhankar,P. M. Gopinath,Hampapathalu A. Nagarajaram,Kapaettu Satyamoorthy,Katta M. Girisha +27 more
TL;DR: The results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations, and sequencing of these exons initially may be a cost‐effective approach in Asian Indian patients.
Journal ArticleDOI
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Jeevana Praharsha Athota,Meenakshi Bhat,Sheela Nampoothiri,Kalpana Gowrishankar,Sanjeeva Ghanti Narayanachar,Vinuth N Puttamallesh,Mohammed Oomer Farooque,Swathi Shetty +7 more
TL;DR: This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India, and the clinical features and mutational spectrum observed in this cohort are similar to those reported in other large studies done worldwide.
Journal ArticleDOI
Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy
Gandham SriLakshmi Bhavani,Hitesh Shah,Anju Shukla,Neerja Gupta,Kalpana Gowrishankar,Anand Prahalad Rao,Madhulika Kabra,Meenal Agarwal,Prajnya Ranganath,Prajnya Ranganath,Alka V. Ekbote,Shubha R. Phadke,Asha Kamath,Ashwin Dalal,Katta M. Girisha +14 more
TL;DR: The clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports are characterized, and a comprehensive review of the MMP2 related disorders is provided.