VaidehiJobanputraMD

PubMed

• Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
  Brock Schroeder, Heidi L Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R Marshall, Linyan Meng, Stephen F Kingsmore, Katarzyna Ellsworth,...> ;NPJ Genomic Medicine. 2024 Mar 27
• Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
  Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanp...> ;NPJ Genomic Medicine. 2024 Feb 26
• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• 2 citations
  Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
  Schmidt, R., Steeves, M., Bayrak-Toydemir, P., Benson, K., Coe, B., Conlin, L., Ganapathi, M., Garcia, J., Gollob, M., Jobanputra, V., Luo, M., Ma, D., Maston, G., McG...> ;Genetics in Medicine. 2024 Mar 1
• 2 citations
  Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
  Thomas Hays, Rebecca Hernan, Michele Disco, Emily L Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U Rehman, Amanda T Wilson, Sau...> ;Circulation. Genomic and Precision Medicine. 2023 Oct 1
• 1 citations
  Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
  Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie...> ;Genetics in Medicine. 2023 Sep 1
• Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
  Maddalena Marasa, Dina F Ahram, Atteeq U Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G Jain, Patricia L Weng, Stacy E Piva, Hilda E Fernandez, Natalie S Uy, Deb...> ;Kidney International Reports. 2023 Aug 1
• 8 citations
  The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
  Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, An...> ;Genetics in Medicine. 2023 Dec 1
• 1 citations
  Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
  Katherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, Monisha Sebastin, Jacqueline A Odgis, Miranda Di Biase, Nicole R Kelly, Michelle A Ramos, Beverly J Insel, L...> ;Clinical Genetics. 2023 Aug 1
• 1 citations
  Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
  Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross...> ;Circulation. Genomic and Precision Medicine. 2023 Apr 1
• 8 citations
  Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
  Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie...> ;Medrxiv. 2023 Mar 20
• 2 citations
  Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
  Anna Alkelai, Lior Greenbaum, Shahar Shohat, Gundula Povysil, Ayan Malakar, Zhong Ren, Joshua E Motelow, Tanya Schechter, Benjamin Draiman, Eti Chitrit-Raveh, Daniel H...> ;Schizophrenia Research. 2023 Feb 1
• 4 citations
  Detection of mosaic variants using genome sequencing in a large pediatric cohort.
  Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michell...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 18 citations
  Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
  Edwin Cuppen, Olivier Elemento, Richard Rosenquist, Svetlana Nikic, Maarten IJzerman, Isabelle Durand Zaleski, Geert Frederix, Lars-Åke Levin, Charles G Mullighan, Rei...> ;JCO Precision Oncology. 2022 Dec 1
• 1 citations
  Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.
  Namrata G Jain, Dina F Ahram, Maddalena Marasa, Ateeq U Rehman, Halie J May, Stergios Zacharoulis, Anya Revah-Politi, Michelle E Florido, Gregory B Whittemore, Vimla S...> ;Kidney International Reports. 2022 Oct 1
• 5 citations
  Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
  Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z C Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorr...> ;Scientific Reports. 2022 Jun 7
• 3 citations
  Expanding the phenotype ofdeficiency.
  Subit Barua, Sara Berger, Elaine M Pereira, Vaidehi Jobanputra> ;Cold Spring Harbor Molecular Case Studies. 2022 Jun 1
• 37 citations
  Best practices for the interpretation and reporting of clinical whole genome sequencing.
  Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Ted Young, Sarah Barnett, John W Belmont, Nicole Boc...> ;NPJ Genomic Medicine. 2022 Apr 8
• 1 citations
  3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
  Subit Barua, Elaine M Pereira, Vaidehi Jobanputra, Kwame Anyane-Yeboa, Brynn Levy, Jun Liao> ;Molecular Cytogenetics. 2022 Mar 3
• Whole-exome sequencing detectsvariants in two adults with McArdle disease.
  Amanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, Vaidehi Jobanputra, Salvatore DiMauro, Michio Hirano, Ali B Naini, Mythily Ganapathi> ;Cold Spring Harbor Molecular Case Studies. 2022 Feb 1
• 1 citations
  Case Report: Prenatal Identification of aMosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
  Avinash V Dharmadhikari, Elaine M Pereira, Carli C Andrews, Michael Macera, Nina Harkavy, Ronald Wapner, Vaidehi Jobanputra, Brynn Levy, Mythily Ganapathi, Jun Liao> ;Frontiers in Genetics. 2022 Jan 1
• 3 citations
  RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Si...
  Arianna Di Napoli, Davide Vacca, Giorgio Bertolazzi, Gianluca Lopez, Maria Piane, Aldo Germani, Evelina Rogges, Giuseppina Pepe, Fabio Santanelli Di Pompeo, Marzia Sal...> ;Cancers. 2021 Dec 7
• Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children ...
  Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn ...> ;Trials. 2021 Dec 1
• 11 citations
  The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
  Anna Alkelai, Lior Greenbaum, Anna R. Docherty, Andrey A. Shabalin, Gundula Povysil, Ayan Malakar, Daniel Hughes, Shannon Delaney, Emma P. Peabody, James M. McNamara, ...> ;Molecular Psychiatry. 2021 Nov 19
• 6 citations
  Embryonic lethal genetic variants and chromosomally normal pregnancy loss.
  Jennie Kline, Badri N. Vardarajan, Avinash Abhyankar, Sonja Kytömaa, Bruce Levin, Nara Sobreira, Andrew Tang, Amanda Thomas-Wilson, Ruiwei Zhang, Vaidehi Jobanputra> ;Fertility and Sterility. 2021 Nov 1
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