Search Results - Vaidehi Jobanputra

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  1. 1

    Indolent small intestinal CD4+ T-cell lymphoma is a distinct entity with unique biologic and clinical features. by Elizabeth Margolskee, Vaidehi Jobanputra, Suzanne K Lewis, Bachir Alobeid, Peter H R Green, Govind Bhagat

    Published in PLoS ONE (2013-01-01)
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  2. 2

    P788: Unveiling a dual diagnosis: The role of exome reanalysis in evolving pediatric phenotypes by Tian Yu, Carina Bertolini, Sidra Zaheer, Xinming Zhuo, William Fyke, Alejandro Iglesias, Mahesh Mansukhani, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    P695: Incremental yield for genome sequencing in individuals with inherited retinal diseases by Amanda Thomas-Wilson, Megan Soucy, Atteeq Rehman, Irene Maumenee, Shahid Khan, Saurav Guha, Volkan Okur, Stephen Tsang, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    P765: Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype* by Josie Pervola, Alexandra Tinfow, Stephanie Galloway, Erica Spiegel, Ronald Wapner, Vaidehi Jobanputra, Carina Bertolini, Nina Harkavy, Derrick Peña, Joanna Urli, Jessica Giordano

    Published in Genetics in Medicine Open (2024-01-01)
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  5. 5

    P775: Maternally inherited 11p15 duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling mild Russell-Silver syndrome phenotype by Amanda Thomas-Wilson, Nina Harkavy, Corbin Schwanke, Jonathan Schoof, Sowmya Thirumalai Srinivasa, Saurav Guha, Atteeq Rehman, Volkan Okur, Jessica Giordano, Abdallah Elias, Ronald Wapner, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2024-01-01)
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  6. 6

    P635: Validating fetal RNA sequencing to improve classification of splicing variants in prenatal diagnosis* by Ted Han, Atteeq Rehman, Priya Krithivasan, Patrick Shea, Alicia Lam, Michael Ficurilli, Endre Hegedus, Junior Cadet, Vanessa Felice, Jessica Giordano, Avinash Abhyankar, Ronald Wapner, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2025-01-01)
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  7. 7

    P135: Integrating germline analysis with tumor sequencing: Advancing cancer genomics by Volkan Okur, Marilena Melas, Bruce Elder, Sowmya Thirumalai Srinivasa, Saurav Guha, Michelle Primiano, Ashley Wilson, Shree Lekha Kandasamy, Avinash Abhyankar, Cora Sternberg, Daniela Guevara, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2025-01-01)
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  8. 8

    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders by Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    Published in npj Genomic Medicine (2024-02-01)
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  9. 9

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action by Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

    Published in npj Genomic Medicine (2024-03-01)
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  10. 10

    P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing* by Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2024-01-01)
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  11. 11

    19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation by John Herriges, Zoe K. Lewis, Bradley Coe, Cassandra K. Runke, Rachel D. Burnside, Laura K. Conlin, Benjamin A. Hilton, Nicole Hoppman, Vaidehi Jobanputra, Brynn Levy, Lucilla Pizzo, Erin Rooney Riggs, Andrea K. Vaags, Shulin Zhang, Christa Lese Martin, Erica F. Andersen

    Published in Genetics in Medicine Open (2025-01-01)
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  12. 12

    O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group* by Matthew Lebo, Marcie Steeves, Katherine Benson, Laura Conlin, Mythily Ganapathi, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Kelly McGoldrick, Blake Palculict, Heidi Rehm, Panagiotis Sergouniotis, Samantha Schilit, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang Zhang, Ryan Schmidt

    Published in Genetics in Medicine Open (2023-01-01)
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  13. 13

    P780: Improving peripartum health is an unappreciated advantage of prenatal genome sequencing by Jessica Giordano, Josie Pervola, Ashley Wilson, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Alexandra Tinfow, Stephanie Galloway, Hannah Perrin, Cecilia Esteves, Poppy Brace, Caitlin Baptiste, Sowmya Thirumalai Srinivasa, Shahid Khan, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Vaidehi Jobanputra, Ronald Wapner

    Published in Genetics in Medicine Open (2024-01-01)
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  14. 14

    O44: Genome sequencing as a first-tier prenatal diagnostic test by Vaidehi Jobanputra, Jessica Giordano, Josie Pervola, Ashley Wilson, Saurav Guha, Amanda Thomas-Wilson, Atteeq Rehman, Volkan Okur, Ted Han, Cecilia Esteves, Alexandra Tinfow, Stephanie Galloway, Sowmya T. Srinivasa, Shahid Khan, Poppy Brace, Caroline Nava, Hannah Perrin, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Ronald Wapner

    Published in Genetics in Medicine Open (2024-01-01)
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  15. 15

    P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders by Volkan Okur, Sowmya Thirumalai Srinivasa, Amanda Halstrom, John Falcone, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Shruti Phadke, Avinash Abhyankar, Ashley Wilson, Caroline Nava, Shahid Khan, Maurice Hurd, Sarah Stewart, Katerine Claudio, Anne Jablonski, Jyothi Manohar, Sonal Kumar, Michele Yeung, Gregory Dakin, Omar Bellorin-Marin, Cheguevara Afaneh, Lisa Hudgins, Jessica Pena, Esther Wei, Laura Gingras, Alexandra King, Judy Tung, Shuibing Chen, Ryan Smith, Theresa MacDonald, Megan Ritter, Lauro Alonso, Olivier Elemento, Miriam Udler, Marcus Goncalves, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2024-01-01)
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  16. 16

    Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases by Jonathan Mitchell, Niedzica Camacho, Patrick Shea, Konrad H. Stopsack, Vijai Joseph, Oliver S. Burren, Ryan S. Dhindsa, Abhishek Nag, Jacob E. Berchuck, Amanda O’Neill, Ali Abbasi, Anthony W. Zoghbi, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M. Torres, Rory Collins, Quanli Wang, David Goldstein, Athena Matakidou, Carolina Haefliger, Lauren Anderson-Dring, Ruth March, Vaidehi Jobanputra, Brian Dougherty, Keren Carss, Slavé Petrovski, Philip W. Kantoff, Kenneth Offit, Lorelei A. Mucci, Mark Pomerantz, Margarete A. Fabre

    Published in Nature Communications (2025-02-01)
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  17. 17

    The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing by Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein

    Published in Pilot and Feasibility Studies (2023-03-01)
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  18. 18

    Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children by Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

    Published in Trials (2021-02-01)
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  19. 19

    P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* by Erin Venti, Diane Masser-Frye, Miguel Del Campo, Marilyn Jones, Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya, Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes, Aime Lumaka, Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata, Adeline Vanderver, Omar Sherbini, Amy Pizzino, Donald Basel, Julie McCarrier, Marwan Shinawi, Nora Urraca, Chester Brown, Fabio Sirchia, Elisa Giorgio, Alan Taylor, Shruti Shenbagam, Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt, Denise Perry, Akanchha Kesari, Christian Marshall, Anna Pan, Kym Boycott, Meredith Gillespie, Caitlin Chisholm, Vaidehi Jobanputra, Ashley Wilson, Lena Fielding, David Schlesinger, Fernando Kok, Sharon Terry, Ryan Taft

    Published in Genetics in Medicine Open (2025-01-01)
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  20. 20

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson

    Published in The Journal of Clinical Investigation (2024-01-01)
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