Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy
Voskobiynyk, Yuliya, Battu, Gopal, Felker, Stephanie A, Cochran, J Nicholas, Newton, Megan P, Lambert, Laura J, Kesterson, Robert A, Myers, Richard M, Cooper, Gregory M, Roberson, Erik D, Barsh, Gregory S
Published in PLoS genetics (07.01.2021)
Published in PLoS genetics (07.01.2021)
Get full text
Journal Article
Qualitative and quantitative MDCT features for differentiating clear cell renal cell carcinoma from other solid renal cortical masses
Lee-Felker, Stephanie A, Felker, Ely R, Tan, Nelly, Margolis, Daniel J A, Young, Jonathan R, Sayre, James, Raman, Steven S
Published in American journal of roentgenology (1976) (01.11.2014)
Published in American journal of roentgenology (1976) (01.11.2014)
Get full text
Journal Article
Newly Diagnosed Breast Cancer: Comparison of Contrast-enhanced Spectral Mammography and Breast MR Imaging in the Evaluation of Extent of Disease
Lee-Felker, Stephanie A, Tekchandani, Leena, Thomas, Mariam, Gupta, Esha, Andrews-Tang, Denise, Roth, Antoinette, Sayre, James, Rahbar, Guita
Published in Radiology (01.11.2017)
Published in Radiology (01.11.2017)
Get full text
Journal Article
Allele specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
Anderson, Ashlyn G, Moyers, Belle A, Loupe, Jacob M, Rodriguez-Nunez, Ivan, Felker, Stephanie A, Lawlor, James M J, Bunney, William E, Bunney, Blynn G, Cartagena, Preston M, Sequeira, Adolfo, Watson, Stanley, Akil, Huda, Mendenhall, Eric M, Cooper, Gregory M, Myers, Richard M
Published in Genome research (01.08.2024)
Published in Genome research (01.08.2024)
Get full text
Journal Article
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
Get full text
Journal Article
Genome sequencing as a first-line diagnostic test for hospitalized infants
Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
Get full text
Journal Article
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Felker, Stephanie A., Lawlor, James M.J., Hiatt, Susan M., Thompson, Michelle L., Latner, Donald R., Finnila, Candice R., Bowling, Kevin M., Bonnstetter, Zachary T., Bonini, Katherine E., Kelly, Nicole R., Kelley, Whitley V., Hurst, Anna C.E., Rashid, Salman, Kelly, Melissa A., Nakouzi, Ghunwa, Hendon, Laura G., Bebin, E. Martina, Kenny, Eimear E., Cooper, Gregory M.
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
Get full text
Journal Article
Use of MDCT to Differentiate Autoimmune Pancreatitis From Ductal Adenocarcinoma and Interstitial Pancreatitis
Lee-Felker, Stephanie A, Felker, Ely R, Kadell, Barbara, Farrell, James, Raman, Steven S, Sayre, James, Lu, David S
Published in American journal of roentgenology (1976) (01.07.2015)
Published in American journal of roentgenology (1976) (01.07.2015)
Get full text
Journal Article
In-bore magnetic resonance-guided transrectal biopsy for the detection of clinically significant prostate cancer
Felker, Ely R., Lee-Felker, Stephanie A., Feller, John, Margolis, Daniel J., Lu, David S., Princenthal, Robert, May, Stuart, Cohen, Martin, Huang, Jiaoti, Yoshida, Jeffrey, Greenwood, Bernadette, Kim, Hyun J., Raman, Steven S.
Published in Abdominal imaging (01.05.2016)
Published in Abdominal imaging (01.05.2016)
Get full text
Journal Article
Efficacy of imaging-guided percutaneous radiofrequency ablation for the treatment of biopsy-proven malignant cystic renal masses
Felker, Ely R, Lee-Felker, Stephanie A, Alpern, Lousine, Lu, David, Raman, Steven S
Published in American journal of roentgenology (1976) (01.11.2013)
Published in American journal of roentgenology (1976) (01.11.2013)
Get full text
Journal Article
Intraductal Cooling via a Nasobiliary Tube During Radiofrequency Ablation of Central Liver Tumors Reduces Biliary Injuries
Felker, Ely R, Lee-Felker, Stephanie A, Ajwichai, Khobkhoon, Tan, Nelly, Lu, David S, Durazo, Francisco A, Raman, Steven S
Published in American journal of roentgenology (1976) (01.06.2015)
Published in American journal of roentgenology (1976) (01.06.2015)
Get full text
Journal Article
Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity
Hirschi, Owen R., Felker, Stephanie A., Rednam, Surya P., Vallance, Kelly L., Parsons, D. Williams, Roy, Angshumoy, Cooper, Gregory M., Plon, Sharon E.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Accuracy of whole-body HDP SPECT/CT, FDG PET/CT, and their combination for detecting bone metastases in breast cancer: an intra-personal comparison
Rager, Olivier, Lee-Felker, Stephanie A, Tabouret-Viaud, Claire, Felker, Ely R, Poncet, Antoine, Amzalag, Gaël, Garibotto, Valentina, Zaidi, Habib, Walter, Martin A
Published in American journal of nuclear medicine and molecular imaging (01.01.2018)
Get full text
Published in American journal of nuclear medicine and molecular imaging (01.01.2018)
Journal Article
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Lemke, Amy A, Thompson, Michelle L, Gimpel, Emily C, McNamara, Katelyn C, Rich, Carla A, Finnila, Candice R, Cochran, Meagan E, Lawlor, James M J, East, Kelly M, Bowling, Kevin M, Latner, Donald R, Hiatt, Susan M, Amaral, Michelle D, Kelley, Whitley V, Greve, Veronica, Gray, David E, Felker, Stephanie A, Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E, Hendon, Laura G, Janani, Hillary M, Johnston, Marla, Merin, Lee Ann, Deans, Sarah L, Tuura, Carly, Hughes, Trent, Williams, Heather, Laborde, Kelly, Neu, Matthew B, Patrick-Esteve, Jessica, Hurst, Anna C E, Kirmse, Brian M, Savich, Renate, Spedale, Steven B, Knight, Sara J, Barsh, Gregory S, Korf, Bruce R, Cooper, Gregory M, Brothers, Kyle B
Published in Journal of personalized medicine (21.06.2023)
Published in Journal of personalized medicine (21.06.2023)
Get full text
Journal Article
JOURNAL CLUB: Use of MDCT to Differentiate Autoimmune Pancreatitis From Ductal Adenocarcinoma and Interstitial Pancreatitis
Lee-Felker, Stephanie A., Felker, Ely R., Kadell, Barbara, Farrell, James, Raman, Steven S., Sayre, James, Lu, David S.
Published in American journal of roentgenology (1976) (01.07.2015)
Published in American journal of roentgenology (1976) (01.07.2015)
Get full text
Journal Article
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs
Moyers, Belle A, Loupe, Jacob M, Felker, Stephanie A, Lawlor, James M J, Anderson, Ashlyn G, Rodriguez-Nunez, Ivan, Bunney, William E, Bunney, Blynn G, Cartagena, Preston M, Sequeira, Adolfo, Watson, Stanley J, Akil, Huda, Mendenhall, Eric M, Cooper, Gregory M, Myers, Richard M
Published in bioRxiv (09.10.2023)
Published in bioRxiv (09.10.2023)
Get full text
Journal Article
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity
Hirschi, Owen R, Felker, Stephanie A, Rednam, Surya P, Vallance, Kelly L, Parsons, D Williams, Roy, Angshumoy, Cooper, Gregory M, Plon, Sharon E
Published in medRxiv : the preprint server for health sciences (01.11.2023)
Get more information
Published in medRxiv : the preprint server for health sciences (01.11.2023)
Journal Article
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Felker, Stephanie A, Lawlor, James Mj, Hiatt, Susan M, Thompson, Michelle L, Latner, Donald R, Finnila, Candice R, Bowling, Kevin M, Bonnstetter, Zachary T, Bonini, Katherine E, Kelly, Nicole R, Kelley, Whitley V, Hurst, Anna Ce, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Published in bioRxiv (13.01.2023)
Published in bioRxiv (13.01.2023)
Get full text
Journal Article
Paper