Search Results - Sujatha Jagadeesh

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  1. 1
    The promise of discovering population-specific disease-associated genes in South Asia

    The promise of discovering population-specific disease-associated genes in South Asia by Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta M. Girisha, Mohammed S. Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj

    Published 2017
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  2. 2
    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D by Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita Beck, Heidi Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn Earl, Sujatha Jagadeesh, Sarju Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Published 2012
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  3. 3
    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations by Mariëlle Alders, Antonella Mendola, Lesley C. Adès, Lihadh Al Gazali, Carlo Bellini, Bruno Dallapiccola, Patrick Edery, Ulrich Frank, F. Hornshuh, Sanne Huisman, Sujatha Jagadeesh, Hülya Kayserili, Wee Teik Keng, Dorit Lev, Carlos E. Prada, J Sampson, J. Schmidtke, Vandana Shashi, Yolande van Bever, Nathalie Van der Aa, Judith M.A. Verhagen, Johanna B. G. M. Verheij, Miikka Vikkula, Raoul C. M. Hennekam

    Published 2012
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  4. 4
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy by Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    Published 2013
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  5. 5
    Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

    Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability by Anne Raimondo, Ali Chakera, Soren K. Thomsen, Kevin Colclough, Amy Barrett, Elisa De Franco, Alisson Chatelas, Hüseyin Demirbilek, Teoman Akçay, Hussein Alawneh, Sarah E. Flanagan, Martijn van de Bunt, Andrew T. Hattersley, Anna L. Gloyn, Sian Ellard, Mohammad A. Abduljabbar, Mahmoud Alzyoud, Syed Aman, Louise Bath, Parijat De, Neeta Deshpande, Erdem Durmaz, Frank Eickmeier, Nancy Samir Elbarbary, Marc Fillion, Sujatha Jagadeesh, Melanie Kershaw, Waqas Khan, Wojciech Młynarski, Kathryn Noyes, Catherine Peters, Nick Shaw, Irina Tiron, Doğa Türkkahraman, Lesley Turner, Khadiga Eltonbary, Bilgin Yüksel

    Published 2014
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  6. 6
    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients by Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Bréguet, Elvira Kurvinen, Sujatha Jagadeesh, Aslı Ece Solmaz, Mónica Aguinaga‐Ríos, Reda Hemida, Mehmet Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie‐Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre‐Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica G. Scotchie, Majid Fardaei, Müge Harma, R. J McKinlay Gardner, Trilochan Sahoo, Tracy Dudding‐Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim

    Published 2018
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  7. 7
    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies by Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth

    Published 2023
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  8. 8
    Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in<i>AIP</i>Mutation Carriers

    Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in<i>AIP</i>Mutation Carriers by Laura C. Hernández‐Ramírez, Plamena Gabrovska, Judit Dénes, Karen Stals, Giampaolo Trivellin, Daniel Tilley, Francesco Ferraù, Jane Evanson, Sian Ellard, Ashley Grossman, Federico Roncaroli, Mônica R. Gadelha, Márta Korbonits, Amar Agha, Scott Akker, Elena Daniela Aflorei, Sándor Alföldi, Wiebke Arlt, Brew Atkinson, Anna Aulinas-Masó, Simon Aylwin, Philippe Backeljauw, Corin Badiu, Stephanie Baldeweg, Gul Bano, Ariel Barkan, Julian Barwell, Carmen Bernal-González, G. M. Besser, John S. Bevan, Joanne Blair, Pierre Bouloux, Lisa Bradley, Michael Buchfelder, Mehtap Çakır, Natalie Canham, Paul Carroll, Harvinder Chahal, Tim Cheetham, F. Chentli, Richard N. Clayton, Mark L. Cohen, Trevor Cole, Hamish Courtney, Elizabeth Crowne, Daniel J. Cuthbertson, Jacob Dal, Nadezhda Dalantaeva, Christina Daousi, Ken Darzy, Mehul Dattani, Justin H. Davies, J.R. Davis, Margaret de Castro, Laura De Marinis, William Drake, Pinaki Dutta, Larisa Dzeranova, Britt Edén Engström, Rosalind A. Eeles, Maria Elfving, Marianne S. Elston, Louise Emmerson, Naomi Fersht, Simona Fica, Stefan Fischli, Daniel Flanagan, Maria Fleseriu, Pamela U. Freda, Theodore C. Friedman, Lawrence A. Frohman, Patricia Gallego, Evelien Gevers, Edit Gláz, James A. Goldman, Anthony P. Goldstone, Miklós Góth, Lynn Greenhalgh, Joan Grieve, Mirtha Guitelman, Alper Gürlek, Mark Gurnell, Katalin Horváth, Trevor A. Howlett, Charlotte Höybye, Steven Hunter, Donato Iacovazzo, Péter Igaz, Warrick J. Inder, Takeo Iwata, Louise Izatt, Sujatha Jagadeesh, Gregory Kaltsas, Felicity Kaplan, Niki Karavitaki, Darko Kaštelan, Michelle L. Katz, Tara Kearney, Bernard Khoo, Cathy Kiraly‐Borri

    Published 2015
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