Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial
Christensen, Kurt D., Vassy, Jason L., Phillips, Kathryn A., Blout, Carrie L., Azzariti, Danielle R., Lu, Christine Y., Robinson, Jill O., Lee, Kaitlyn, Douglas, Michael P., Yeh, Jennifer M., Machini, Kalotina, Stout, Natasha K., Rehm, Heidi L., McGuire, Amy L., Green, Robert C., Dukhovny, Dmitry
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
Get full text
Journal Article
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xg a
Lane, William J, Aguad, Maria, Smeland-Wagman, Robin, Vege, Sunitha, Mah, Helen H, Joseph, Abigail, Blout, Carrie L, Nguyen, Tiffany T, Lebo, Matthew S, Sidhu, Manpreet, Lomas-Francis, Christine, Kaufman, Richard M, Green, Robert C, Westhoff, Connie M
Published in Transfusion (Philadelphia, Pa.) (01.03.2019)
Published in Transfusion (Philadelphia, Pa.) (01.03.2019)
Get full text
Journal Article
Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome
Santoro, Jonathan D, Kerr, Lauren M, Codden, Rachel, Casper, Theron Charles, Greenberg, Benjamin M, Waubant, Emmanuelle, Kong, Sek Won, Mandl, Kenneth D, Gorman, Mark P
Published in Neurology : neuroimmunology & neuroinflammation (01.11.2021)
Published in Neurology : neuroimmunology & neuroinflammation (01.11.2021)
Get full text
Journal Article
Summarizing polygenic risks for complex diseases in a clinical whole-genome report
Kong, Sek Won, Lee, In-Hee, Leshchiner, Ignaty, Krier, Joel, Kraft, Peter, Rehm, Heidi L., Green, Robert C., Kohane, Isaac S., MacRae, Calum A.
Published in Genetics in medicine (01.07.2015)
Published in Genetics in medicine (01.07.2015)
Get full text
Journal Article
Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline
Lee, In-Hee, Lee, Kyungjoon, Hsing, Michael, Choe, Yongjoon, Park, Jin-Ho, Kim, Shu Hee, Bohn, Justin M., Neu, Matthew B., Hwang, Kyu-Baek, Green, Robert C., Kohane, Isaac S., Kong, Sek Won
Published in Human mutation (01.05.2014)
Published in Human mutation (01.05.2014)
Get full text
Journal Article
The Genomics Research and Innovation Network: creating aninteroperable, federated, genomics learning system
Mandl, Kenneth D, Glauser, Tracy, Krantz, Ian D, Avillach, Paul, Bartels, Anna, Beggs, Alan H, Biswas Sawona, Bourgeois, Florence T, Corsmo Jeremy, Dauber, Andrew, Devkota Batsal, Fleisher, Gary R, Heath, Allison P, Helbig Ingo, Hirschhorn, Joel N, Kilbourn Judson, Kong Sek Won, Kornetsky, Susan, Majzoub, Joseph A, Marsolo Keith, Martin, Lisa J, Nix, Jeremy, Schwarzhoff Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L, Taylor, Deanne M, White, Peter S, Marsh, Eric, Grimberg Adda, Hawkes, Colin, Barkman Darlene, Borglund, Erin M, Chakrabarty Ramkrishna, Chandel Alka, Degala Anil Kumar, DeSain, Thomas, Dexheimer, Philip, Divekar Parth, Ellis, Alyssa, Furgason, Mike, Geehan, Christopher, Guidetti, Andrew Joseph, Gutierrez, Alba, Hallinan, Barbara, Harper, Becca, Jalali Niloofar, Khanna Jaspreet, Kirby, Christopher, Korodi Gabor, Kouril Michal, Kratchman, Amy, Kumar Ranjay, Labilloy Guillaume, Lee, In-Hee, Bria, Morgan, Morgan, James, Muglia, Louis J, Nikitin Aleksandr, Pistone, Mike, Poduri, Anna, Rupert, Andrew, Safier, Kristen, Sliz Piotr, Stevenson Gelvina, Geme Joseph St III, Thaker Vidhu, Temporal Simone, Velayutham Prakash, Wijesooriya Julie, Wolf, Bryan, Wooten, Andrew, Yen, Alan, Zhang, Yu
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
Get full text
Journal Article
I148 M variant in PNPLA 3 reduces central adiposity and metabolic disease risks while increasing nonalcoholic fatty liver disease
Park, Jin‐Ho, Cho, BeLong, Kwon, Hyuktae, Prilutsky, Daria, Yun, Jae Moon, Choi, Ho Chun, Hwang, Kyu‐Baek, Lee, In‐Hee, Kim, Jong‐Il, Kong, Sek Won
Published in Liver international (01.12.2015)
Published in Liver international (01.12.2015)
Get full text
Journal Article
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga
Lane, William J., Aguad, Maria, Smeland‐Wagman, Robin, Vege, Sunitha, Mah, Helen H., Joseph, Abigail, Blout, Carrie L., Nguyen, Tiffany T., Lebo, Matthew S., Sidhu, Manpreet, Lomas‐Francis, Christine, Kaufman, Richard M., Green, Robert C., Westhoff, Connie M., Bates, David W., Blout, Carrie, Christensen, Kurt D., Cirino, Allison L., Green, Robert C., Ho, Carolyn Y., Krier, Joel B., Lane, William J., Lehmann, Lisa S., MacRae, Calum A., Morton, Cynthia C., Perry, Denise L., Seidman, Christine E., Sunyaev, Shamil R., Vassy, Jason L., Schonman, Erica, Nguyen, Tiffany, Steffens, Eleanor, Betting, Wendi Nicole, Aronson, Samuel J., Ceyhan‐Birsoy, Ozge, Lebo, Matthew S., Machini, Kalotina, McLaughlin, Heather M., Azzariti, Danielle R., Rehm, Heidi L., Tsai, Ellen A., Blumenthal‐Barby, Jennifer, Feuerman, Lindsay Z., McGuire, Amy L., Lee, Kaitlyn, Robinson, Jill O., Slashinski, Melody J., Diamond, Pamela M., Davis, Kelly, Ubel, Peter A., Kraft, Peter, Scott Roberts, J., Garber, Judy E., Hambuch, Tina, Murray, Michael F., Kohane, Isaac, Kong, Sek Won
Published in Transfusion (Philadelphia, Pa.) (01.03.2019)
Published in Transfusion (Philadelphia, Pa.) (01.03.2019)
Get full text
Journal Article
Development of the Precision Link Biobank at Boston Children's Hospital: Challenges and Opportunities
Bourgeois, Florence T, Avillach, Paul, Kong, Sek Won, Heinz, Michelle M, Tran, Tram A, Chakrabarty, Ramkrishna, Bickel, Jonathan, Sliz, Piotr, Borglund, Erin M, Kornetsky, Susan, Mandl, Kenneth D
Published in Journal of personalized medicine (15.12.2017)
Published in Journal of personalized medicine (15.12.2017)
Get full text
Journal Article
Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods
Hwang, Kyu-Baek, Lee, In-Hee, Park, Jin-Ho, Hambuch, Tina, Choe, Yongjoon, Kim, MinHyeok, Lee, Kyungjoon, Song, Taemin, Neu, Matthew B., Gupta, Neha, Kohane, Isaac S., Green, Robert C., Kong, Sek Won
Published in Human mutation (01.08.2014)
Published in Human mutation (01.08.2014)
Get full text
Journal Article
Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures
Prilutsky, Daria, Kho, Alvin T, Palmer, Nathan P, Bhakar, Asha L, Smedemark-Margulies, Niklas, Kong, Sek Won, Margulies, David M, Bear, Mark F, Kohane, Isaac S
Published in Molecular autism (21.12.2015)
Published in Molecular autism (21.12.2015)
Get full text
Journal Article
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Kong, Sek Won, Sahin, Mustafa, Collins, Christin D, Wertz, Mary H, Campbell, Malcolm G, Leech, Jarrett D, Krueger, Dilja, Bear, Mark F, Kunkel, Louis M, Kohane, Isaac S
Published in Molecular autism (24.02.2014)
Published in Molecular autism (24.02.2014)
Get full text
Journal Article
Combining gene expression data from different generations of oligonucleotide arrays
Hwang, Kyu-Baek, Kong, Sek Won, Greenberg, Steve A, Park, Peter J
Published in BMC bioinformatics (25.10.2004)
Published in BMC bioinformatics (25.10.2004)
Get full text
Journal Article
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Kong, Sek Won, Lee, In-Hee, Collen, Lauren V, Manrai, Arjun K, Snapper, Scott B, Mandl, Kenneth D
Published in medRxiv : the preprint server for health sciences (23.05.2024)
Get more information
Published in medRxiv : the preprint server for health sciences (23.05.2024)
Journal Article
Neutrophil extracellular traps formation is associated with postoperative complications in neonates and infants undergoing congenital cardiac surgery
Maisat, Wiriya, Hou, Lifei, Sandhu, Sumiti, Sin, Yi-Cheng, Kim, Samuel, Pelt, Hanna Van, Chen, Yue, Emani, Sirisha, Kong, Sek Won, Emani, Sitram, Ibla, Juan, Yuki, Koichi
Published in bioRxiv (23.12.2023)
Published in bioRxiv (23.12.2023)
Get full text
Journal Article