Opportunistic genomic screening has clinical utility: An interventional cohort study

Authors: Bombard, Yvonne, Armel, Susan Randall, Aronson, Melyssa, Baxter, Nancy N., Bond, Kenneth, Capo-Chichi, José-Mario, Carroll, June C., Caulfield, Timothy, Clausen, Marc, Clifford, Tammy J., Cohn, Iris, Dhalla, Irfan, Earle, Craig C., Eisen, Andrea, Elser, Christine, Evans, Michael, Glogowski, Emily, Graham, Tracy, Greenfeld, Elena, Hamilton, Jada G., Isaranuwatchai, Wanrudee, Kastner, Monika, Kim, Raymond H., Lerner-Ellis, Jordan, Morel, Chantal F., Mujoomdar, Michelle, Noor, Abdul, Offit, Kenneth, Panchal, Seema, Robson, Mark E., Scherer, Stephen W., Scheer, Adena, Schrader, Kasmintan A., Sullivan, Terrence, Thorpe, Kevin E., Mighton, Chloe ^{1, 2}, Kodida, Rita ², Shickh, Salma ^{1, 2}, Reble, Emma ², Sam, Jordan ², Grewal, Sonya ², Hirjikaka, Daena ², Piccinin, Carolyn ^{3, 4}, Ward, Thomas ⁵, Hofstedter, Renee ⁶, Mancuso, Talia ⁷, Forster, Nicole ⁸, Glogowksi, Emily ¹⁶, Chan, Kelvin K.W. ^{1, 19}

Source: In Genetics in Medicine February 2025 27(2)

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study

Authors: Dickson, Brendan, Gingras, Anne-Claude, Goneau, Lee W., Mazzulli, Tony, McGeer, Allison, McLeod, Shelley, Pugh, Trevor J., Simpson, Jared, Casalino, Selina, Mighton, Chloe, Clausen, Marc, Frangione, Erika, Aujla, Navneet, MacDonald, Georgia, Young, Juliet, Fung, Chun Yiu Jordan, Morgan, Gregory, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Chowdhary, Sunakshi, Dagher, Marc, Devine, Luke, Friedman, Steven Marc, Hao, Limin, Khan, Zeeshan, Lane, William, Lapadula, Elisa, Lebo, Matthew, Richardson, David, Stern, Seth, Strug, Lisa, Taher, Ahmed, Greenfeld, Elena, Noor, Abdul, Faghfoury, Hanna, Taher, Jennifer, Bombard, Yvonne, Lerner-Ellis, Jordan

Source: In Genetics in Medicine December 2024 26(12)

“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

Authors: Bombard, Yvonne, Armel, Susan Randall, Aronson, Melyssa, Baxter, Nancy N., Bond, Kenneth, Capo-Chichi, José-Mario, Carroll, June C., Caulfield, Timothy, Clausen, Marc, Clifford, Tammy J., Cohn, Iris, Dhalla, Irfan, Earle, Craig C., Eisen, Andrea, Elser, Christine, Evans, Michael, Glogowski, Emily, Graham, Tracy, Greenfeld, Elena, Hamilton, Jada G., Isaranuwatchai, Wanrudee, Kastner, Monika, Kim, Raymond H., Laupacis, Andreas, Lerner-Ellis, Jordan, Morel, Chantal F., Mujoomdar, Michelle, Noor, Abdul, Offit, Kenneth, Panchal, Seema, Robson, Mark E., Scherer, Stephen W., Scheer, Adena, Schrader, Kasmintan A., Sullivan, Terrence, Thorpe, Kevin E., Shickh, Salma, Mighton, Chloe, Kodida, Rita, Adi-Wauran, Ella, Hirjikaka, Daena, Krishnapillai, Suvetha, Reble, Emma, Sam, Jordan

Source: In Genetics in Medicine December 2023 25(12)

Enveloped viruses pseudotyped with mammalian myogenic cell fusogens target skeletal muscle for gene delivery

Authors: Hindi, Sajedah M., Petrany, Michael J., Greenfeld, Elena, Focke, Leah C., Cramer, Alyssa A.W., Whitt, Michael A., Khairallah, Ramzi J., Ward, Christopher W., Chamberlain, Jeffrey S., Prasad, Vikram, Podbilewicz, Benjamin, Millay, Douglas P.

Source: In Cell 11 May 2023 186(10):2062-2077

Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies

Authors: Wang, Yiming, Greenfeld, Elena, Watkins, Nicholas, Belesiotis, Peter, Zaidi, Syed H., Marshall, Christian, Thiruvahindrapuram, Bhooma, Shannon, Patrick, Roifman, Maian, Chong, Karen, Chitayat, David, Stavropoulos, Dimitri James, Noor, Abdul

Source: Prenatal diagnosis. 42(7):822-830

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154072549.0x000001&indx=1&recIds=ETOCvdc_100154072549.0x000001

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Authors: Wang, Yiming, Lazier, Joanna, Myles‐Reid, Diane, Noor, Abdul, Chitayat, David, Greenfeld, Elena

Source: Clinical case reports. 11(4)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185372271.0x000001&indx=1&recIds=ETOCvdc_100185372271.0x000001

Revisiting the Implications of a Wide or Narrow Fetal Cavum Septi Pellucidi.

Authors: Sichitiu, Joanna, Ghannad‐Zadeh, Kimia, Van Mieghem, Tim, Toi, Ants, Greenfeld, Elena, Chitayat, David, Shinar, Shiri

Source: Journal of Ultrasound in Medicine; Aug2024, Vol. 43 Issue 8, p1461-1466, 6p

Subject Terms: FETAL ultrasonic imaging, WELL-being, FETUS, CROSS-sectional method, FETAL echocardiography

Validation of low‐pass genome sequencing for prenatal diagnosis.

Authors: Mighton, Chloe, Noor, Abdul, Watkins, Nicholas, Di Gioacchino, Vanessa, Lerner‐Ellis, Jordan, Wong, Andrew, Mukharryamova, Elvira, Anggala, Nina, Chitayat, David, Greenfeld, Elena

Source: Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p443-453, 11p

P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity

Authors: Mackley, Michael, Silver, Rachel, Watkins, Nicholas, Greenfeld, Elena, Redmond, Sarah, Zhang, Hui Jue, Roifman, Maian, Chitayat, David

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P782: Validation of low-pass genome sequencing for prenatal diagnosis

Authors: Mighton, Chloe, Noor, Abdul, Watkins, Nicholas, Di Gioacchino, Vanessa, Lerner-Ellis, Jordan, Wong, Andrew, Anggala, Nina, Chitayat, David, Greenfeld, Elena

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies

Authors: Gershon, Ariel, Anandampillai, Tanvi, Arshad, Maahil, Martin, Nicole, Stavropoulos, James, Noor, Abdul, Greenfeld, Elena, Chong, Karen, Chitayat, David, Meyn, Stephen, Wang, Yiming

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P733: Comparative analysis of DNA variant classifications between the GENCOV COVID-19 genome study and the ClinVar database

Authors: Mahajan, Radhika, Frangione, Erika, Aujla, Navneet, Casalino, Selina, Jayachandran, Lochana, Morgan, Gregory, Young, Juliet, Dickson, Brendan, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Clausen, Marc, Dagher, Marc, Devine, Luke, Friedman, Steven, Gingras, Anne-Claude, Khan, Zeeshan, Mazzulli, Tony, McLeod, Shelley, Mighton, Chloe, Pugh, Trevor, Simpson, Jared, Stern, Seth, Strug, Lisa, Taher, Ahmed, Greenfeld, Elena, Bombard, Yvonne, Noor, Abdul, Faghfoury, Hanna, Taher, Jennifer, Lerner-Ellis, Jordan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank

Authors: Frangione, Erika, Xinyi, Xu, Chapdelaine, Vincent, Casalino, Selina, Aujla, Navneet, Mahajan, Radhika, Jayachandran, Lochana, Morgan, Gregory, Scott, Mackenzie, Young, Juliet, Dickson, Brendan, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Chertkow, Howard, Clausen, Marc, Dagher, Marc, Devine, Luke, Friedman, Steven, Gingras, Anne-Claude, Goneau, Lee, Kaushik, Deepanjali, Khan, Zeeshan, Lapadula, Elisa, MacDonald, Georgia, Mazzulli, Tony, McGeer, Allison, McLeod, Shelley, Mighton, Chloe, Pugh, Trevor, Richardson, David, Simpson, Jared, Stern, Seth, Strug, Lisa, Taher, Ahmed, Wong, Iris, Zarei, Natasha, Greenfeld, Elena, Bombard, Yvonne, Noor, Abdul, Faghfoury, Hanna, Taher, Jennifer, Taliun, Daniel, Lerner-Ellis, Jordan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P709: Self reported vs genetic ancestry from the GENCOV COVID-19 genomic sequencing study

Authors: Frangione, Erika, Casalino, Selina, Aujla, Navneet, Mahajan, Radhika, Jayachandran, Lochana, Morgan, Gregory, Scott, Mackenzie, Young, Juliet, Dickson, Brendan, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Chertkow, Howard, Clausen, Marc, Dagher, Marc, Devine, Luke, Friedman, Steven, Gingras, Anne-Claude, Goneau, Lee, Kaushik, Deepanjali, Khan, Zeeshan, Lapadula, Elisa, MacDonald, Georgia, Mazzulli, Tony, McGeer, Allison, McLeod, Shelley, Mighton, Chloe, Pugh, Trevor, Richardson, David, Simpson, Jared, Stern, Seth, Strug, Lisa, Taher, Ahmed, Wong, Iris, Zarei, Natasha, Greenfeld, Elena, Bombard, Yvonne, Noor, Abdul, Faghfoury, Hanna, Taher, Jennifer, Lerner-Ellis, Jordan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P574: Summary of findings from comprehensive genome sequencing performed in a healthy population cohort*

Authors: Casalino, Selina, Mahajan, Radhika, Aujla, Navneet, Frangione, Erika, Jayachandran, Lochana, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Chertkow, Howard, Chowdhary, Sunakshi, Clausen, Marc, Dagher, Marc, Devine, Luke, Dickson, Brendan, Di Iorio, David, Jordan Fung, Chun Yiu, Friedman, Steven, Gingras, Anne-Claude, Goneau, Lee, Haller, Simona, Hao, Limin, Kaushik, Deepanjali, Khan, Zeeshan, Lane, William, Lapadula, Elisa, Lebo, Matthew, Lu, Tiffany, MacDonald, Georgia, Mazzulli, Tony, McGeer, Allison, McLeod, Shelley, Mighton, Chloe, Morgan, Gregory, Nomigolzar, Romina, Pugh, Trevor, Richardson, David, Scott, Mackenzie, Simpson, Jared, Stern, Seth, Strug, Lisa, Taher, Ahmed, Thakur, Shilpa, Wolday, Dawit, Wong, Iris, Young, Juliet, Zarei, Natasha, Greenfeld, Elena, Bombard, Yvonne, Noor, Abdul, Faghfoury, Hanna, Taher, Jennifer, Lerner-Ellis, Jordan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study

Authors: Mighton, Chloe, Kodida, Rita, Shickh, Salma, Clausen, Marc, Reble, Emma, Sam, Jordan, Grewal, Sonya, Panchal, Seema, Aronson, Melyssa, Armel, Susan, Graham, Tracy, Forster, Nicole, Capo-Chichi, Jose-Mario, Greenfeld, Elena, Noor, Abdul, Cohn, Iris, Morel, Chantal, Elser, Christine, Eisen, Andrea, Carroll, June, Glogowski, Emily, Schrader, Kasmintan, Chan, Kelvin, Thorpe, Kevin, Lerner-Ellis, Jordan, Kim, Raymond, Bombard, Yvonne

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P523: Returning all clinically relevant findings from genomic sequencing: Preliminary results from the incidental genomics RCT

Authors: Bombard, Yvonne, Mighton, Chloe, Shickh, Salma, Clausen, Marc, Kodida, Rita, Reble, Emma, Sam, Jordan, Grewal, Sonya, Panchal, Seema, Aronson, Melyssa, Armel, Susan, Graham, Tracy, Forster, Nicole, Capo-Chichi, Jose-Mario, Greenfeld, Elena, Noor, Abdul, Cohn, Iris, Morel, Chantal, Elser, Christine, Eisen, Andrea, Carroll, June, Glogowski, Emily, Schrader, Kasmintan, Lerner-Ellis, Jordan, Kim, Raymond, Thorpe, Kevin

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population

Authors: Reble, Emma, Sam, Jordan, Kodida, Rita, Clausen, Marc, Shickh, Salma, Mighton, Chloe, Capo-Chichi, Jose-Mario, Greenfeld, Elena, Noor, Abdul, Kim, Raymond, Lerner-Ellis, Jordan, Bombard, Yvonne

Source: In Genetics in Medicine Open 2023 1(1) Supplement

P436: Population genome screening identifies previously undiagnosed disease: A case series

Authors: Casalino, Selina, Faghfoury, Hanna, Aujla, Navneet, Di Iorio, David, Frangione, Erika, Jordan Fung, Chun Yiu, Morgan, Gregory, Scott, Mackenzie, Wolday, Dawit, Arnoldo, Saranya, Bearss, Erin, Binnie, Alexandra, Borgundvaag, Bjug, Chertkow, Howard, Chowdhary, Sunakshi, Chung, Monica, Clausen, Marc, Dagher, Marc, Devine, Luke, Friedmen, Steven, Gingras, Anne-Claude, Goneau, Lee, Kaushik, Deepanjali, Khan, Zeeshan, Lapadula, Elisa, Lu, Tiffany, MacDonald, Georgia, Mazzulli, Tony, McGeer, Allison, McLeod, Shelley, Mighton, Chloe, Pugh, Trevor, Richardson, David, Simpson, Jared, Stern, Seth, Strug, Lisa, Taher, Ahmed, Wong, Iris, Zarei, Natasha, Greenfeld, Elena, Hao, Limin, Lebo, Matthew, Lane, William, Noor, Abdul, Bombard, Yvonne, Taher, Jennifer, Lerner-Ellis, Jordan

Source: In Genetics in Medicine Open 2023 1(1) Supplement

Opportunistic genomic screening has clinical utility: An interventional cohort study

Authors: Mighton, Chloe, Kodida, Rita, Shickh, Salma, Clausen, Marc, Reble, Emma, Sam, Jordan, Grewal, Sonya, Hirjikaka, Daena, Panchal, Seema, Piccinin, Carolyn, Aronson, Melyssa, Ward, Thomas, Armel, Susan Randall, Hofstedter, Renee, Graham, Tracy, Mancuso, Talia, Forster, Nicole, Capo-Chichi, José-Mario, Greenfeld, Elena, Noor, Abdul, Cohn, Iris, Morel, Chantal F., Elser, Christine, Eisen, Andrea, Carroll, June C., Glogowksi, Emily, Schrader, Kasmintan A., Chan, Kelvin K.W., Thorpe, Kevin E., Lerner-Ellis, Jordan, Kim, Raymond H., Bombard, Yvonne, Bombard, Yvonne, Armel, Susan Randall, Aronson, Melyssa, Baxter, Nancy N., Bond, Kenneth, Capo-Chichi, José-Mario, Carroll, June C., Caulfield, Timothy, Clausen, Marc, Clifford, Tammy J., Cohn, Iris, Dhalla, Irfan, Earle, Craig C., Eisen, Andrea, Elser, Christine, Evans, Michael, Glogowski, Emily, Graham, Tracy, Greenfeld, Elena, Hamilton, Jada G., Isaranuwatchai, Wanrudee, Kastner, Monika, Kim, Raymond H., Lerner-Ellis, Jordan, Morel, Chantal F., Mujoomdar, Michelle, Noor, Abdul, Offit, Kenneth, Panchal, Seema, Robson, Mark E., Scherer, Stephen W., Scheer, Adena, Schrader, Kasmintan A., Sullivan, Terrence, Thorpe, Kevin E.

Source: Genetics in Medicine; February 2025, Vol. 27 Issue: 2