Droplet Microfluidics-Enabled High-Throughput Screening for Protein Engineering von Weng, Lindong, Spoonamore, James E

Volltext

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... von Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit

Volltext

Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias von Spoonamore, Katherine G., MS, CGC, Ware, Stephanie M., MD, PhD

Volltext

The impact of cardiovascular genetic counseling on patient empowerment von Ison, Hannah E., Ware, Stephanie M., Schwantes‐An, Tae‐Hwi, Freeze, Samantha, Elmore, Lindsey, Spoonamore, Katherine G.

Volltext

Improvement of a synthetic live bacterial therapeutic for phenylketonuria with biosensor-enabled enzyme engineering von Adolfsen, Kristin J., Callihan, Isolde, Monahan, Catherine E., Greisen, Per Jr, Spoonamore, James, Momin, Munira, Fitch, Lauren E., Castillo, Mary Joan, Weng, Lindong, Renaud, Lauren, Weile, Carl J., Konieczka, Jay H., Mirabella, Teodelinda, Abin-Fuentes, Andres, Lawrence, Adam G., Isabella, Vincent M.

Volltext

Health and Function of Patients With Untreated Idiopathic Scoliosis: A 50-Year Natural History Study von Weinstein, Stuart L, Dolan, Lori A, Spratt, Kevin F, Peterson, Kirk K, Spoonamore, Mark J, Ponseti, Ignacio V

Volltext

Use of genetic testing to identify sudden cardiac death syndromes von Vatta, Matteo, PhD, Spoonamore, Katherine G., MS

Volltext

Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization von Murayama, Rie, Kimura-Asami, Mariko, Togo-Ohno, Marina, Yamasaki-Kato, Yumiko, Naruse, Taeko K., Yamamoto, Takeshi, Hayashi, Takeharu, Ai, Tomohiko, Spoonamore, Katherine G., Kovacs, Richard J., Vatta, Matteo, Iizuka, Mai, Saito, Masumi, Wani, Shotaro, Hiraoka, Yuichi, Kimura, Akinori, Kuroyanagi, Hidehito

Volltext

A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America von Rickman, Allison F., Fitzgerald‐Butt, Sara M., Spoonamore, Katherine G., Ware, Stephanie M., Helm, Benjamin M.

Volltext

Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway von Li, Gang, Diogo, Dorothée, Wu, Di, Spoonamore, Jim, Dancik, Vlado, Franke, Lude, Kurreeman, Fina, Rossin, Elizabeth J, Duclos, Grant, Hartland, Cathy, Zhou, Xuezhong, Li, Kejie, Liu, Jun, De Jager, Philip L, Siminovitch, Katherine A, Zhernakova, Alexandra, Raychaudhuri, Soumya, Bowes, John, Eyre, Steve, Padyukov, Leonid, Gregersen, Peter K, Worthington, Jane, Gupta, Namrata, Clemons, Paul A, Stahl, Eli, Tolliday, Nicola, Plenge, Robert M

Volltext

Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study von Richardson, Brooke, Fitzgerald‐Butt, Sara M., Spoonamore, Katherine G., Wetherill, Leah, Helm, Benjamin M., Breman, Amy M.

Volltext

Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia von Smith, Sakima A, Sturm, Amy C, Curran, Jerry, Kline, Crystal F, Little, Sean C, Bonilla, Ingrid M, Long, Victor P, Makara, Michael, Polina, Iuliia, Hughes, Langston D, Webb, Tyler R, Wei, Zhiyi, Wright, Patrick, Voigt, Niels, Bhakta, Deepak, Spoonamore, Katherine G, Zhang, Chuansheng, Weiss, Raul, Binkley, Philip F, Janssen, Paul M, Kilic, Ahmet, Higgins, Robert S, Sun, Mingzhai, Ma, Jianjie, Dobrev, Dobromir, Zhang, Mingjie, Carnes, Cynthia A, Vatta, Matteo, Rasband, Matthew N, Hund, Thomas J, Mohler, Peter J

Volltext

Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients von Spoonamore, Katherine G, Johnson, Nicole M

Volltext

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification von Reuter, Chloe, Grove, Megan E., Orland, Kate, Spoonamore, Katherine, Caleshu, Colleen

Volltext

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services von Helm, Benjamin M., Freeze, Samantha L., Spoonamore, Katherine G., Ware, Stephanie M., Ayers, Mark D., Kean, Adam C.

Volltext

Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk von Crawford, Christopher A, Vujakovich, Courtney E, Elmore, Lindsey, Fleming, Emily, Landis, Benjamin J, Spoonamore, Katie G, Ware, Stephanie M

Volltext

Targeting BRCA1- and BRCA2-deficient cells with RAD52 small molecule inhibitors von Huang, Fei, Goyal, Nadish, Sullivan, Katherine, Hanamshet, Kritika, Patel, Mikir, Mazina, Olga M, Wang, Charles X, An, W Frank, Spoonamore, James, Metkar, Shailesh, Emmitte, Kyle A, Cocklin, Simon, Skorski, Tomasz, Mazin, Alexander V

Volltext

P4–336: Novel untranslated region‐directed blockers of amyloid precursor protein translation for late Down syndrome and Alzheimer's disease therapy von Rogers, Jack, Spoonamore, James

Volltext

Novel untranslated region-directed blockers of amyloid precursor protein translation for late Down syndrome and Alzheimer's disease therapy von Rogers, Jack, Spoonamore, James

Volltext

The incidence of myocardial infarction after lumbar spine surgery von Harwin, Brett, Formanek, Blake, Spoonamore, Mark, Robertson, Djani, Buser, Zorica, Wang, Jeffrey C.

Volltext