A novel TRPC6 mutation in a family with podocytopathy and clinical variability

por Mottl, Amy K, Lu, Mei, Fine, Catherine A, Weck, Karen E
Publicado 2013

Phenotypic heterogeneity in females with X-linked Alport syndrome

por Allred, Samuel C., Weck, Karen E., Gasim, Adil, Mottl, Amy K.
Publicado 2015

Public Interest in Population Genetic Screening for Cancer Risk

por Roberts, Megan C., Foss, Kimberly S., Henderson, Gail E., Powell, Sabrina N., Saylor, Katherine W., Weck, Karen E., Milko, Laura V.
Publicado 2022

Assessing the implications of positive genomic screening results

por Waltz, Margaret, Meagher, Karen M, Henderson, Gail E, Goddard, Katrina AB, Muessig, Kristin, Berg, Jonathan S, Weck, Karen E, Cadigan, R Jean
Publicado 2020

“Possibly positive or certainly uncertain?”: Participants’ responses to uncertain diagnostic results from exome sequencing

por Skinner, Debra, Roche, Myra I., Weck, Karen E., Raspberry, Kelly A., Foreman, A. Katherine M., Strande, Natasha T., Berg, Jonathan S., Evans, James P., Henderson, Gail E.
Publicado 2017

Phospho-ERK and AKT status, but not KRAS mutation status, are associated with outcomes in rectal cancer treated with chemoradiotherapy

por Davies, Janine M, Trembath, Dimitri, Deal, Allison M, Funkhouser, William K, Calvo, Benjamin F, Finnegan, Timothy, Weck, Karen E, Tepper, Joel E, O'Neil, Bert H
Publicado 2011

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

por Haskell, Gloria T., Mori, Mari, Powell, Cynthia, Amrhein, Timothy J., Rice, Gillian I., Bailey, Lauren, Strande, Natasha, Weck, Karen E., Evans, James P., Berg, Jonathan S., Kishnani, Priya
Publicado 2018

Acute Myeloid Leukemia with Co-mutated ASXL1 and SRSF2 Exhibits Monocytic Differentiation and has a Mutational Profile Overlapping with Chronic Myelomonocytic Leukemia

por Johnson, Steven M., Richardson, Daniel R., Galeotti, Jonathan, Esparza, Sonia, Zhu, Anqi, Fedoriw, Yuri, Weck, Karen E., Foster, Matthew C., Coombs, Catherine C., Zeidner, Joshua F., Montgomery, Nathan D.
Publicado 2019

Frequency and Clinical Outcomes of CYP2C19 Genotype-Guided Escalation and De-escalation of Antiplatelet Therapy in a Real-World Clinical Setting

por Martin, Jesse, Williams, Alexis K., Klein, Melissa D., Sriramoju, Vindhya B., Madan, Shivanshu, Rossi, Joseph S., Clarke, Megan, Cicci, Jonathan D., Cavallari, Larisa H., Weck, Karen E., Stouffer, George A., Lee, Craig R.
Publicado 2019

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
Publicado 2016

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

por Zhao, Xiaobei, Wang, Anyou, Walter, Vonn, Patel, Nirali M., Eberhard, David A., Hayward, Michele C., Salazar, Ashley H., Jo, Heejoon, Soloway, Matthew G., Wilkerson, Matthew D., Parker, Joel S., Yin, Xiaoying, Zhang, Guosheng, Siegel, Marni B., Rosson, Gary B., Earp, H. Shelton, Sharpless, Norman E., Gulley, Margaret L., Weck, Karen E., Hayes, D. Neil, Moschos, Stergios J.
Publicado 2015

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

por Perera, Minoli A, Cavallari, Larisa H, Limdi, Nita A, Gamazon, Eric R, Konkashbaev, Anuar, Daneshjou, Roxana, Pluzhnikov, Anna, Crawford, Dana C, Wang, Jelai, Liu, Nianjun, Tatonetti, Nicholas, Bourgeois, Stephane, Takahashi, Harumi, Bradford, Yukiko, Burkley, Benjamin M, Desnick, Robert J, Halperin, Jonathan L, Khalifa, Sherief I, Langaee, Taimour Y, Lubitz, Steven A, Nutescu, Edith A, Oetjens, Matthew, Shahin, Mohamed H, Patel, Shitalben R, Sagreiya, Hersh, Tector, Matthew, Weck, Karen E, Rieder, Mark J, Scott, Stuart A, Wu, Alan HB, Burmester, James K, Wadelius, Mia, Deloukas, Panos, Wagner, Michael J, Mushiroda, Taisei, Kubo, Michiaki, Roden, Dan M, Cox, Nancy J, Altman, Russ B, Klein, Teri E, Nakamura, Yusuke, Johnson, Julie A
Publicado 2013

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016