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 2013-01-01

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

by Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative
Published 2020-05-01

Clinical utility of genomic sequencing: a measurement toolkit

by Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Published 2020-12-01

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

by Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Published 2020-11-01

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

by Gina M DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, Claudia Dall'Armi, Gilbert Di Paolo, Heather Feenstra, Nanette Silverberg, Luis Rohena, Larissa D López-Cepeda, Vaidehi Jobanputra, Katherine A Fantauzzo, Maija Kiuru, Marija Tadin-Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C Salas-Alanis, Angela M Christiano
Published 2014-01-01

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 2021-02-01

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 2021-01-01

Sequencing and curation strategies for identifying candidate glioblastoma treatments

by Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Alice Fang, Vladimir Vacic, Ewa A. Bergmann, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell
Published 2019-04-01

Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments

by Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Xiaolan Fang, Vladimir Vacic, Ewa A. Bergmann, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell
Published 2019-08-01