13 Publications
2019
The impact of cardiovascular genetic counseling on patient empowerment
Ison, Hannah E⋅Ison, Hannah E⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Schwantes‐An, Tae‐Hwi⋅Schwantes‐An, Tae‐Hwi⋅Freeze, Samantha⋅Freeze, Samantha⋅Elmore, Lindsey⋅Elmore, Lindsey⋅Spoonamore, Katherine G and Spoonamore, Katherine G
Journal of Genetic Counseling, vol. 28, (no. 3), pp. 577, June 2019. | Journal Article
2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Kelly, Melissa⋅Caleshu, Colleen⋅Morales, Ana⋅Buchan, Jillian⋅Wolf, Zena⋅Harrison, Steven⋅Cook, Stuart⋅Dillon, Mitchell⋅Garcia, John⋅Haverfield, Eden⋅Jongbloed, Jan⋅Macaya, Daniela⋅Manrai, Arjun⋅Orland, Kate⋅Richard, Gabriele⋅Spoonamore, Katherine⋅Thomas, Matthew⋅Thomson, Kate⋅Vincent, Lisa⋅Walsh, Roddy⋅Watkins, Hugh⋅Whiffin, Nicola⋅Ingles, Jodie⋅Tintelen, J.⋅Semsarian, Christopher⋅Ware, James⋅Hershberger, Ray and Funke, Birgit
Genetics in medicine, vol. 20, (no. 3), pp. 359, 2018. | Journal Article
 
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification
Reuter, Chloe⋅Reuter, Chloe⋅Grove, Megan⋅Grove, Megan⋅Orland, Kate⋅Orland, Kate⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Caleshu, Colleen and Caleshu, Colleen
Journal of Genetic Counseling, vol. 27, (no. 4), pp. 760, 20180800. | Journal Article
 
Lamin-A/C variants found in patients with cardiac conduction disease reduce sodium currents
Olaopa, Michael A⋅Olaopa, Michael A⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G⋅Bhakta, Deepak⋅Bhakta, Deepak⋅Chen, Zhenhui⋅Chen, Zhenhui⋅Celestino-Soper, Patricia B.S⋅Celestino-Soper, Patricia B.S⋅Chen, Peng-Sheng⋅Chen, Peng-Sheng⋅Ai, Tomohiko⋅Ai, Tomohiko⋅Vatta, Matteo and Vatta, Matteo
Cardiogenetics, vol. 8, (no. 1), 2018-02-22. | Journal Article
 
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
Murayama, Rie⋅Murayama, Rie⋅Kimura-Asami, Mariko⋅Kimura-Asami, Mariko⋅Togo-Ohno, Marina⋅Togo-Ohno, Marina⋅Yamasaki-Kato, Yumiko⋅Yamasaki-Kato, Yumiko⋅Naruse, Taeko K⋅Naruse, Taeko K⋅Yamamoto, Takeshi⋅Yamamoto, Takeshi⋅Hayashi, Takeharu⋅Hayashi, Takeharu⋅Ai, Tomohiko⋅Ai, Tomohiko⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G⋅Kovacs, Richard J⋅Kovacs, Richard J⋅Vatta, Matteo⋅Vatta, Matteo⋅Iizuka, Mai⋅Iizuka, Mai⋅Saito, Masumi⋅Saito, Masumi⋅Wani, Shotaro⋅Wani, Shotaro⋅Hiraoka, Yuichi⋅Hiraoka, Yuichi⋅Kimura, Akinori⋅Kimura, Akinori⋅Kuroyanagi, Hidehito and Kuroyanagi, Hidehito
Scientific reports, vol. 8, (no. 1), pp. 14, 2018-Jun-12. | Journal Article
 
The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services
Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam and Kean, Adam
Journal of Genetic Counseling, vol. 27, (no. 3), pp. 564, 20180600. | Journal Article
2017
Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease
Morales, Ana⋅Morales, Ana⋅Allain, Dawn⋅Allain, Dawn⋅Arscott, Patricia⋅Arscott, Patricia⋅James, Emily⋅James, Emily⋅MacCarrick, Gretchen⋅MacCarrick, Gretchen⋅Murray, Brittney⋅Murray, Brittney⋅Tichnell, Crystal⋅Tichnell, Crystal⋅Shikany, Amy⋅Shikany, Amy⋅Spencer, Sara⋅Spencer, Sara⋅Fitzgerald-Butt, Sara⋅Fitzgerald Butt, Sara⋅Kushner, Jessica⋅Kushner, Jessica⋅Munn, Christi⋅Munn, Christi⋅Smith, Emily⋅Smith, Emily⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Tandri, Harikrishna⋅Tandri, Harikrishna⋅Aaron Kay, W and Aaron Kay, W
Journal of Genetic Counseling, vol. 26, (no. 4), pp. 689, 20170800. | Journal Article
 
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
Piccolo, Pasquale⋅Attanasio, Sergio⋅Secco, Ilaria⋅Sangermano, Riccardo⋅Strisciuglio, Caterina⋅Limongelli, Giuseppe⋅Miele, Erasmo⋅Mutarelli, Margherita⋅Banfi, Sandro⋅Nigro, Vincenzo⋅Pons, Tirso⋅Valencia, Alfonso⋅Zentilin, Lorena⋅Campione, Severo⋅Nardone, Gerardo⋅Lynnes, Ty C⋅Celestino-Soper, Patricia B S⋅Spoonamore, Katherine G⋅D'Armiento, Francesco P⋅Giacca, Mauro⋅Staiano, Annamaria⋅Vatta, Matteo⋅Collesi, Chiara and Brunetti-Pierri, Nicola
Human molecular genetics, vol. 26, (no. 1), pp. 43, 2017-01-01. | Journal Article
 
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders
Celestino-Soper, Patrícia B S⋅Celestino-Soper, Patrícia B S⋅Gao, Hongyu⋅Gao, Hongyu⋅Lynnes, Ty C⋅Lynnes, Ty C⋅Lin, Hai⋅Lin, Hai⋅Liu, Yunlong⋅Liu, Yunlong⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G⋅Chen, Peng-Sheng⋅Chen, Peng Sheng⋅Vatta, Matteo and Vatta, Matteo
Frontiers in cardiovascular medicine, vol. 4, pp. 11, 2017-00-00. | Journal Article
2016
Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias
Spoonamore, Katherine and Ware, Stephanie M., MD, PhD
Heart Rhythm, vol. 13, (no. 3), pp. 797, 2016. | Journal Article
 
Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients
Spoonamore, Katherine G and Johnson, Nicole M
Frontiers in cardiovascular medicine, vol. 3, pp. 14, 2016-00-00. | Journal Article
2015
Dysfunction in the βII Spectrin–Dependent Cytoskeleton Underlies Human Arrhythmia
Smith, Sakima A⋅Smith, Sakima A⋅Sturm, Amy C⋅Sturm, Amy C⋅Curran, Jerry⋅Curran, Jerry⋅Kline, Crystal F⋅Kline, Crystal F⋅Little, Sean C⋅Little, Sean C⋅Bonilla, Ingrid M⋅Bonilla, Ingrid M⋅Long, Victor P⋅Long, Victor P⋅Makara, Michael⋅Makara, Michael⋅Polina, Iuliia⋅Polina, Iuliia⋅Hughes, Langston D⋅Hughes, Langston D⋅Webb, Tyler R⋅Webb, Tyler R⋅Wei, Zhiyi⋅Wei, Zhiyi⋅Wright, Patrick⋅Wright, Patrick⋅Voigt, Niels⋅Voigt, Niels⋅Bhakta, Deepak⋅Bhakta, Deepak⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G⋅Zhang, Chuansheng⋅Zhang, Chuansheng⋅Weiss, Raul⋅Weiss, Raul⋅Binkley, Philip F⋅Binkley, Philip F⋅Janssen, Paul M⋅Janssen, Paul M⋅Kilic, Ahmet⋅Kilic, Ahmet⋅Higgins, Robert S⋅Higgins, Robert S⋅Sun, Mingzhai⋅Sun, Mingzhai⋅Ma, Jianjie⋅Ma, Jianjie⋅Dobrev, Dobromir⋅Dobrev, Dobromir⋅Zhang, Mingjie⋅Zhang, Mingjie⋅Carnes, Cynthia A⋅Carnes, Cynthia A⋅Vatta, Matteo⋅Vatta, Matteo⋅Rasband, Matthew N⋅Rasband, Matthew N⋅Hund, Thomas J⋅Hund, Thomas J⋅Mohler, Peter J and Mohler, Peter J
Circulation, vol. 131, (no. 8), pp. 708, 2015-Feb-24. | Journal Article
2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome
Vatta, Matteo⋅Vatta, Matteo⋅Niu, Zhiyv⋅Niu, Zhiyv⋅Lupski, James R⋅Lupski, James R⋅Putnam, Philip⋅Putnam, Philip⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G⋅Fang, Ping⋅Fang, Ping⋅Eng, Christine M⋅Eng, Christine M⋅Willis, Alecia S and Willis, Alecia S
American Journal of Medical Genetics Part A, vol. 161, (no. 12), pp. 3186, December 2013. | Journal Article