1. Analytical demands to use whole-genome sequencing in precision oncology. (September 2022) Authors: Meggendorfer, Manja; Jobanputra, Vaidehi; Wrzeszczynski, Kazimierz O.; Roepman, Paul; de Bruijn, Ewart; Cuppen, Edwin; Buttner, Reinhard; Caldas, Carlos; Grimmond, Sean; Mullighan, Charles G.; Elemento, Olivier; Rosenquist, Richard; Schuh, Anna; Haferlach, Torsten Journal: Seminars in cancer biology Issue: Volume 84(2022) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. (3rd March 2023) Authors: Lewis, Matthew J.; Hsieh, Alexander; Qiao, Lu; Tan, Renjie; Kazzi, Brigitte; Channing, Alexandra; Griffin, Emily L.; Jobanputra, Vaidehi; Su, Jennifer; Shahryar, Chowdhury; Kochilas, Lazaros; Gaynor, J. William; Lee, Teresa; Goldmuntz, Elizabeth; Russell, Mark; Mital, Seema; Tristani, Martin; Bru... Journal: Circulation Issue: Volume 16:Number 2(2023) Page Start: e003900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. (14th September 2015) Authors: Dangiolo, Silvana Beatriz; Wilson, Ashley; Jobanputra, Vaidehi; Anyane‐Yeboa, Kwame Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CD19-negative B-lymphoblastic leukemia associated with hypercalcemia, lytic bone lesions and aleukemic presentation. Issue 5 (May 2015) Authors: Hussein, Shafinaz; Pinkney, Kerice; Jobanputra, Vaidehi; Bhagat, Govind; Alobeid, Bachir Journal: Leukemia & lymphoma Issue: Volume 56:Issue 5(2015:May) Page Start: 1533 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology. (September 2022) Authors: Jobanputra, Vaidehi; Wrzeszczynski, Kazimierz O.; Buttner, Reinhard; Caldas, Carlos; Cuppen, Edwin; Grimmond, Sean; Haferlach, Torsten; Mullighan, Charles; Schuh, Anna; Elemento, Olivier Journal: Seminars in cancer biology Issue: Volume 84(2022) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical utility of whole-genome sequencing in precision oncology. (September 2022) Authors: Rosenquist, Richard; Cuppen, Edwin; Buettner, Reinhard; Caldas, Carlos; Dreau, Helene; Elemento, Olivier; Frederix, Geert; Grimmond, Sean; Haferlach, Torsten; Jobanputra, Vaidehi; Meggendorfer, Manja; Mullighan, Charles G.; Wordsworth, Sarah; Schuh, Anna Journal: Seminars in cancer biology Issue: Volume 84(2022) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. Issue 1 (15th December 2017) Authors: Abhyankar, Avinash; Lamendola‐Essel, Michelle; Brennan, Kelly; Giordano, Jessica L.; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi Journal: Clinical case reports Issue: Volume 6:Issue 1(2018) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma. (August 2017) Authors: Wrzeszczynski, Kazimierz O.; Frank, Mayu O.; Koyama, Takahiko; Rhrissorrakrai, Kahn; Robine, Nicolas; Utro, Filippo; Emde, Anne-Katrin; Chen, Bo-Juen; Arora, Kanika; Shah, Minita; Vacic, Vladimir; Norel, Raquel; Bilal, Erhan; Bergmann, Ewa A.; Moore Vogel, Julia L.; Bruce, Jeffrey N.; Lassman, An... Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Detection of mosaic variants using genome sequencing in a large pediatric cohort. Issue 3 (23rd December 2022) Authors: Odgis, Jacqueline A.; Gallagher, Katie M.; Rehman, Atteeq U.; Marathe, Priya N.; Bonini, Katherine E.; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Kelly, Nicole R.; Ramos, Michelle A.; Thomas‐Wilson, Amanda; Guha, Saurav; Okur, Volkan; Ganapathi, Mythily; Elkhoury, Lama; Edelmann, Lisa;... Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. (21st February 2023) Authors: Griffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rac... Journal: Circulation Issue: Volume 16:Number 2(2023) Page Start: e003791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗