Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

Authors: Abul-Husn, Noura S., Marathe, Priya N., Kelly, Nicole R., Bonini, Katherine E., Sebastin, Monisha, Odgis, Jacqueline A., Abhyankar, Avinash, Brown, Kaitlyn, Di Biase, Miranda, Gallagher, Katie M., Guha, Saurav, Ioele, Nicolette, Okur, Volkan, Ramos, Michelle A., Rodriguez, Jessica E., Rehman, Atteeq U., Thomas-Wilson, Amanda, Edelmann, Lisa, Zinberg, Randi E., Diaz, George A., Greally, John M., Jobanputra, Vaidehi, Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E., Gelb, Bruce D.

Source: In Genetics in Medicine September 2023 25(9)

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

Authors: Marasa, Maddalena, Ahram, Dina F., Rehman, Atteeq U., Mitrotti, Adele, Abhyankar, Avinash, Jain, Namrata G., Weng, Patricia L., Piva, Stacy E., Fernandez, Hilda E., Uy, Natalie S., Chatterjee, Debanjana, Kil, Byum H., Nestor, Jordan G., Felice, Vanessa, Robinson, Dino, Whyte, Dilys, Gharavi, Ali G., Appel, Gerald B., Radhakrishnan, Jai, Santoriello, Dominick, Bomback, Andrew, Lin, Fangming, D’Agati, Vivette D., Jobanputra, Vaidehi, Sanna-Cherchi, Simone

Source: In Kidney International Reports August 2023 8(8):1638-1647

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

Authors: Kline, Jennie, Vardarajan, Badri, Abhyankar, Avinash, Kytömaa, Sonja, Levin, Bruce, Sobreira, Nara, Tang, Andrew, Thomas-Wilson, Amanda, Zhang, Ruiwei, Jobanputra, Vaidehi

Source: In Fertility and Sterility November 2021 116(5):1351-1358

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

Authors: Jobanputra, Vaidehi, Andrews, Peter, Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Robinson, Dino, London, Ferrah, Hakker, Inessa, Wrzeszczynski, Kazimierz, Ronemus, Michael

Source: In The Journal of Molecular Diagnostics December 2020 22(12):1476-1481

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Authors: Amendola, Laura M., Muenzen, Kathleen, Biesecker, Leslie G., Bowling, Kevin M., Cooper, Greg M., Dorschner, Michael O., Driscoll, Catherine, Foreman, Ann Katherine M., Golden-Grant, Katie, Greally, John M., Hindorff, Lucia, Kanavy, Dona, Jobanputra, Vaidehi, Johnston, Jennifer J., Kenny, Eimear E., McNulty, Shannon, Murali, Priyanka, Ou, Jeffrey, Powell, Bradford C., Rehm, Heidi L., Rolf, Bradley, Roman, Tamara S., Van Ziffle, Jessica, Guha, Saurav, Abhyankar, Avinash, Crosslin, David, Venner, Eric, Yuan, Bo, Zouk, Hana, Jarvik, Gail P.

Source: In The American Journal of Human Genetics 5 November 2020 107(5):932-941

P635: Validating fetal RNA sequencing to improve classification of splicing variants in prenatal diagnosis*

Authors: Han, Ted ¹, Rehman, Atteeq ¹, Krithivasan, Priya ¹, Shea, Patrick ¹, Lam, Alicia ¹, Ficurilli, Michael ¹, Hegedus, Endre ¹, Cadet, Junior ¹, Felice, Vanessa ¹, Giordano, Jessica ², Abhyankar, Avinash ¹, Wapner, Ronald ², Jobanputra, Vaidehi ¹

Source: In Genetics in Medicine Open 2025 3 Supplement 2

P135: Integrating germline analysis with tumor sequencing: Advancing cancer genomics

Authors: Okur, Volkan ¹, Melas, Marilena ¹, Elder, Bruce ¹, Srinivasa, Sowmya Thirumalai ¹, Guha, Saurav ¹, Primiano, Michelle ², Wilson, Ashley ¹, Kandasamy, Shree Lekha ¹, Abhyankar, Avinash ¹, Sternberg, Cora ², Guevara, Daniela ², Jobanputra, Vaidehi ¹

Source: In Genetics in Medicine Open 2025 3 Supplement 2

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

Authors: Wrzeszczynski, Kazimierz O., Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Geiger, Heather, Manaa, Dina, London, Ferrah, Robinson, Dino, Fang, Xiaolan, Lin, David, Lamendola-Essel, Michelle F., Khaira, Depinder, Dikoglu, Esra, Emde, Anne-Katrin, Robine, Nicolas, Shah, Minita, Arora, Kanika, Basturk, Olca, Bhanot, Umesh, Kentsis, Alex, Mansukhani, Mahesh M., Bhagat, Govind, Jobanputra, Vaidehi

Source: In The Journal of Molecular Diagnostics November 2018 20(6):822-835

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

Authors: Israel, Laura, Wang, Ying, Bulek, Katarzyna, Della Mina, Erika, Zhang, Zhao, Pedergnana, Vincent, Chrabieh, Maya, Lemmens, Nicole A., Sancho-Shimizu, Vanessa, Descatoire, Marc, Lasseau, Théo, Israelsson, Elisabeth, Lorenzo, Lazaro, Yun, Ling, Belkadi, Aziz, Moran, Andrew, Weisman, Leonard E., Vandenesch, François, Batteux, Frederic, Weller, Sandra, Levin, Michael, Herberg, Jethro, Abhyankar, Avinash, Prando, Carolina, Itan, Yuval, van Wamel, Willem J.B., Picard, Capucine, Abel, Laurent, Chaussabel, Damien, Li, Xiaoxia, Beutler, Bruce, Arkwright, Peter D., Casanova, Jean-Laurent, Puel, Anne

Source: In Cell 23 February 2017 168(5):789-800

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Authors: Exome/Array Consortium, Belkadi, Aziz, Pedergnana, Vincent, Cobat, Aurélie, Itan, Yuval, Vincent, Quentin B., Abhyankar, Avinash, Shang, Lei, El Baghdadi, Jamila, Bousfiha, Aziz, Alcais, Alexandre, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2016 Jun . 113(24), 6713-6718.

Access URL: https://www.jstor.org/stable/26470280

P780: Improving peripartum health is an unappreciated advantage of prenatal genome sequencing

Authors: Giordano, Jessica, Pervola, Josie, Wilson, Ashley, Rehman, Atteeq, Thomas-Wilson, Amanda, Guha, Saurav, Okur, Volkan, Tinfow, Alexandra, Galloway, Stephanie, Perrin, Hannah, Esteves, Cecilia, Brace, Poppy, Baptiste, Caitlin, Srinivasa, Sowmya Thirumalai, Khan, Shahid, Elder, Bruce, Hegedus, Endre, Felice, Vanessa, Phadke, Shruti, Abhyankar, Avinash, Jobanputra, Vaidehi, Wapner, Ronald

Source: In Genetics in Medicine Open 2024 2 Supplement 1

O44: Genome sequencing as a first-tier prenatal diagnostic test

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

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders

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

Source: In Genetics in Medicine Open 2024 2 Supplement 1

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

Authors: Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata

Source: In Molecular Cell 6 August 2015 59(3):478-490

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Authors: Bolze, Alexandre, Mahlaoui, Nizar, Byun, Minji, Turner, Bridget, Trede, Nikolaus, Ellis, Steven R., Abhyankar, Avinash, Itan, Yuval, Patin, Etienne, Brebner, Samuel, Sackstein, Paul, Puel, Anne, Picard, Capucine, Abel, Laurent, Quintana-Murci, Lluis, Faust, Saul N., Williams, Anthony P., Baretto, Richard, Duddridge, Michael, Kini, Usha, Pollard, Andrew J., Gaud, Catherine, Frange, Pierre, Orbach, Daniel, Emile, Jean-Francois, Stephan, Jean-Louis, Sorensen, Ricardo, Plebani, Alessandro, Hammarstrom, Lennart, Conley, Mary Ellen, Selleri, Licia, Casanova, Jean-Laurent

Source: Science, 2013 May . 340(6135), 976-978.

Access URL: http://dx.doi.org/10.1126/science.1234864

The human gene connectome as a map of short cuts for morbid allele discovery

Authors: Itan, Yuval, Zhang, Shen-Ying, Vogt, Guillaume, Abhyankar, Avinash, Herman, Melina, Nitschke, Patrick, Fried, Dror, Quintana-Murci, Lluis, Abel, Laurent, Casanova, Jean-Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2013 Apr 01. 110(14), 5558-5563.

Access URL: https://www.jstor.org/stable/42583022

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

Authors: Bogunovic, Dusan, Byun, Minji, Durfee, Larissa A., Abhyankar, Avinash, Sanal, Ozden, Mansouri, Davood, Salem, Sandra, Radovanovic, Irena, Grant, Audrey V., Adimi, Parisa, Mansouri, Nahal, Okada, Satoshi, Bryant, Vanessa L., Kong, Xiao-Fei, Kreins, Alexandra, Velez, Marcela Moncada, Boisson, Bertrand, Khalilzadeh, Soheila, Ozcelik, Ugur, Darazam, Ilad Alavi, Schoggins, John W., Rice, Charles M., Al-Muhsen, Saleh, Behr, Marcel, Vogt, Guillaume, Puel, Anne, Bustamante, Jacinta, Gros, Philippe, Huibregtse, Jon M., Abel, Laurent, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent

Source: Science, 2012 Sep . 337(6102), 1684-1688.

Access URL: http://dx.doi.org/10.1126/science.1224026

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Authors: Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie

Source: In The American Journal of Human Genetics 15 July 2011 89(1):7-14

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

Authors: Bonini, Katherine E., Thomas‐Wilson, Amanda, Marathe, Priya N., Sebastin, Monisha, Odgis, Jacqueline A., Di Biase, Miranda, Kelly, Nicole R., Ramos, Michelle A., Insel, Beverly J., Scarimbolo, Laura, Rehman, Atteeq U., Guha, Saurav, Okur, Volkan, Abhyankar, Avinash, Phadke, Shruti, Nava, Caroline, Gallagher, Katie M., Elkhoury, Lama, Edelmann, Lisa, Zinberg, Randi E.

Source: Clinical Genetics; Aug2023, Vol. 104 Issue 2, p210-225, 16p

Subject Terms: NUCLEOTIDE sequencing, GENETIC testing, IDENTIFICATION, DNA copy number variations, PHENOTYPES

86 Genome sequencing as a first-tier prenatal diagnostic test: Is it time to change?

Authors: Jobanputra, Vaidehi, Giordano, Jessica L., Pervola, Josie, Okur, Volkan, Thomas-Wilson, Amanda, Guha, Saurav, Rehman, Atteeq U., Wilson, Ashley, Tinfow, Alexandra, Galloway, Stephanie, Abhyankar, Avinash, Felice, Vanessa, Esteves, Cecilia, Hegedus, Endre, Phadke, Shruti, Srinivasa, Sowmya Thirumalai, Khan, Shahid Y., Nava, Caroline, Yan, Qi, Levy, Brynn, Wapner, Ronald J.

Source: In American Journal of Obstetrics and Gynecology January 2024 230(1) Supplement:S64-S64