3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities by Subit Barua, Elaine M. Pereira, Vaidehi Jobanputra, Kwame Anyane-Yeboa, Brynn Levy, Jun Liao

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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

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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

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Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl by Avinash V. Dharmadhikari, Elaine M. Pereira, Carli C . Andrews, Michael Macera, Nina Harkavy, Ronald Wapner, Vaidehi Jobanputra, Brynn Levy, Brynn Levy, Mythily Ganapathi, Jun Liao

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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

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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

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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

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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

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RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via N... by Arianna Di Napoli, Davide Vacca, Giorgio Bertolazzi, Gianluca Lopez, Maria Piane, Aldo Germani, Evelina Rogges, Giuseppina Pepe, Fabio Santanelli Di Pompeo, Marzia Salgarello, Vaidehi Jobanputra, Susan Hsiao, Kazimierz O. Wrzeszczynski, Emilio Berti, Govind Bhagat

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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

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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

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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center by Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra

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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

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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

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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

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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

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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

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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

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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

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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

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