Data sharing to advance gene‐targeted therapies in rare diseases

Authors: Lekstrom‐Himes, Julie, Augustine, Erika F., Brower, Amy, Defay, Thomas, Finkel, Richard S., McGuire, Amy L., Skinner, Mark W., Yu, Timothy W.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 193(1):87-98

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196416752.0x000001&indx=1&recIds=ETOCvdc_100196416752.0x000001

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies

Authors: Vockley, Jerry, Aartsma‐Rus, Annemieke, Cohen, Jennifer L., Cowsert, Lex M., Howell, R. Rodney, Yu, Timothy W., Wasserstein, Melissa P., Defay, Thomas

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 193(1):19-29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196416721.0x000001&indx=1&recIds=ETOCvdc_100196416721.0x000001

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

Authors: Vockley, Jerry, Defay, Thomas, Goldenberg, Aaron J., Gaviglio, Amy M.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 193(1):77-86

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196416708.0x000001&indx=1&recIds=ETOCvdc_100196416708.0x000001

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Authors: Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay., Thomas

Source: In The American Journal of Human Genetics 1 September 2022 109(9):1605-1619

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Authors: Parikh, Jignesh R., Genetti, Casie A., Aykanat, Asli, Brownstein, Catherine A., Schmitz-Abe, Klaus, Danowski, Morgan, Quitadomo, Andrew, Madden, Jill A., Yacoubian, Calum, Gain, Richard, Williams, Tessa, Meskell, Mary, Brown, Andrew, Frith, Alison, Rockowitz, Shira, Sliz, Piotr, Agrawal, Pankaj B., Defay, Thomas, McDonagh, Paul, Reynders, John, Lefebvre, Sebastien, Beggs, Alan H.

Source: In Human Genetics and Genomics Advances 8 July 2021 2(3)

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Authors: Kingsmore, Stephen F.^1,2, skingsmore@rchsd.org, Wright, Meredith^1,2, Olsen, Lauren^1,2, Schultz, Brandan^1,2, Protopsaltis, Liana^1,2, Averbuj, Dan^1,2, Blincow, Eric^1,2, Carroll, Jeanne^2,3, Caylor, Sara^1,2, Defay, Thomas⁴, Ellsworth, Katarzyna^1,2, Feigenbaum, Annette^1,2,3, Gover, Mia¹, Guidugli, Lucia^1,2, Hansen, Christian^1,2, Van Der Kraan, Lucita^1,2, Kunard, Chris M.⁵, Kwon, Hugh^1,2, Madhavrao, Lakshminarasimha^1,2, Leipzig, Jeremy⁶

Source: American Journal of Human Genetics; Dec2024, Vol. 111 Issue 12, p2643-2667, 25p

P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

Authors: Schleit, Jennifer, Wright, Meredith, Olsen, Lauren, Blincow, Eric, Caylor, Sara, Chambers, Christina, Angel, Guillermo del, Ellsworth, Katarzyna (Kasia), Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin, Hansen, Christian, Hobbs, Charlotte, Kiel, Mark, Krilow, Chad, Kunard, Chris, Kwon, YongHyun, Madhavrao, Rao, Mehtalia, Shyamal, Mowrey, William, Le, Jennie, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Oh, Danny, Owen, Mallory, Protopsaltis, Liana, Kobayashi, Erica Sanford, Scharer, Gunter, Schultz, Brandon, Shelnutt, Seth, Smith, Laurie, Tran, Duke, Van Der Kraan, Lucita, Wigby, Kristen, Willis, Mary, Wolen, Aaron, Yandell, Mark, Defay, Thomas, Kingsmore, Stephen

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Response to Grosse et al.

Authors: Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas

Source: American journal of human genetics. 110(6):1017-1017

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191548796.0x000001&indx=1&recIds=ETOCvdc_100191548796.0x000001

EVALUATION OF THE PATTERNS LEADING TO DIAGNOSIS IN PATIENTS WITH AMYLOID LIGHT-CHAIN AMYLOIDOSIS USING THE KOMODO DATABASE

Authors: Catini, Julia N., Doan, Quan, Evans, Jennifer, Shah, Bonny, Rava, Andrew, thanataveerat, anusorn, Defay, Thomas, del Angel, Guillermo, Teynor, Megan, Quarta, Candida Cristina

Source: Journal of the American College of Cardiology. 79(S):564-564

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158530962.0x000001&indx=1&recIds=ETOCvdc_100158530962.0x000001

Gnal Splice Variant and Uses Thereof

System and method for determining three-dimensional structure of protein sequences

Evaluation of the Path to Diagnosis and Time to Treatment in Patients with Light-Chain Amyloidosis Using the Komodo Claims Database

Authors: Catini, Julia ^*, Doan, Quan ^*, Evans, Jennifer ^*, Rava, Andrew ^*, Defay, Thomas ^*, Del Angel, Guillermo ^*, Teynor, Megan ^*, Quarta, Candida Cristina ^*, Maurer, Mathew S. ^*, Lousada, Isabelle ^*

Source: In Blood 15 November 2022 140 Supplement 1:4330-4331

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Authors: Clark, Michelle M., Hildreth, Amber, Batalov, Sergey, Ding, Yan, Chowdhury, Shimul, Watkins, Kelly, Ellsworth, Katarzyna, Camp, Brandon, Kint, Cyrielle I., Yacoubian, Calum, Farnaes, Lauge, Bainbridge, Matthew N., Beebe, Curtis, Braun, Joshua J. A., Bray, Margaret, Carroll, Jeanne, Cakici, Julie A., Caylor, Sara A., Clarke, Christina, Creed, Mitchell P., Friedman, Jennifer, Frith, Alison, Gain, Richard, Gaughran, Mary, George, Shauna, Gilmer, Sheldon, Gleeson, Joseph, Gore, Jeremy, Grunenwald, Haiying, Hovey, Raymond L., Janes, Marie L., Lin, Kejia, McDonagh, Paul D., McBride, Kyle, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Oriol, Albert, Puckett, Laura, Rady, Zia, Reese, Martin G., Ryu, Julie, Salz, Lisa, Sanford, Erica, Stewart, Lawrence, Sweeney, Nathaly, Tokita, Mari, Van Der Kraan, Luca, White, Sarah, Wigby, Kristen, Williams, Brett, Wong, Terence, Wright, Meredith S., Yamada, Catherine, Schols, Peter, Reynders, John, Hall, Kevin, Dimmock, David, Veeraraghavan, Narayanan, Defay, Thomas, Kingsmore, Stephen F.

Source: Science Translational Medicine; April 2019, Vol. 11 Issue: 489