Observed frequency and challenges of variant reclassification in a hereditary cancer clinic von Macklin, Sarah, Durand, Nisha, Atwal, Paldeep, Hines, Stephanie

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Physician interpretation of variants of uncertain significance von Macklin, Sarah K., Jackson, Jessica L., Atwal, Paldeep S., Hines, Stephanie L.

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Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma von Macklin- Mantia, Sarah K, Hines, Stephanie L, Chaichana, Kaisorn L, Donaldson, Angela M, Ko, Stephen L, Zhai, Qihui, Samadder, Niloy Jewel, Riegert-Johnson, Douglas L

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Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results von Macklin‐Mantia, Sarah K., Clift, Kristin E., Maimone, Santo, Hodge, David O., Riegert‐Johnson, Douglas, Hines, Stephanie L.

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Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification von Gupta, Aditi, Zimmermann, Michael T., Wang, Haitao, Broski, Stephen M., Sigafoos, Ashley N., Macklin, Sarah K., Urrutia, Raul A., Clark, Karl J., Atwal, Paldeep S., Pignolo, Robert J., Klee, Eric W.

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Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences von Clift, Kristin E, Macklin, Sarah K, Hines, Stephanie L

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An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant von Macklin-Mantia, Sarah K., Riegert-Johnson, Douglas L.

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Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer von Macklin, Sarah K, Kasi, Pashtoon M, Jackson, Jessica L, Hines, Stephanie L

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome von Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.

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Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer von Macklin-Mantia, Sarah K., Hines, Stephanie L., Kasi, Pashtoon M.

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Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record von Clift, Kristin, Macklin-Mantia, Sarah, Barnhorst, Margaret, Millares, Lindsey, King, Zacharay, Agarwal, Anjali, Presutti, Richard John

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AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature von Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin

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Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction von Caulfield, Thomas R., Atwal, Paldeep S., Mohammad, Ahmed N., Samreen, Ayesha, Helmi, Haytham, Vadlamudi, Charitha, Bruno, Katelyn A., Macklin, Sarah K., Hines, Stephanie L.

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study von Haverfield, Eden V., Esplin, Edward D., Aguilar, Sienna J., Hatchell, Kathryn E., Ormond, Kelly E., Hanson-Kahn, Andrea, Atwal, Paldeep S., Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W. -M., Tucker, Steven, Bleyl, Steven B., Hulick, Peter J., Gordon, Ora K., Velsher, Lea, Gu, Jessica Y. J., Weissman, Scott M., Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A., Green, Robert C., Aradhya, Swaroop, Nussbaum, Robert L.

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Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling von Atwal, Paldeep S., Caulfield, Thomas R., VanGerpen, Jay A., Mohammad, Ahmed N., Broderick, Daniel, Helmi, Haytham, Samreen, Ayesha, Macklin, Sarah K., Vadlamudi, Charitha, Richter, John E., Hines, Stephanie L.

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Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1 von Kaiwar, Charu, Macklin, Sarah K, Gass, Jennifer M, Jackson, Jessica, Klee, Eric W, Hines, Stephanie L, Stauffer, John A, Atwal, Paldeep S

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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy von Morales-Rosado, Joel A., Schwab, Tanya L., Macklin-Mantia, Sarah K., Foley, A. Reghan, Pinto e Vairo, Filippo, Pehlivan, Davut, Donkervoort, Sandra, Rosenfeld, Jill A., Boyum, Grace E., Hu, Ying, Cong, Anh T.Q., Lotze, Timothy E., Mohila, Carrie A., Saade, Dimah, Bharucha-Goebel, Diana, Chao, Katherine R., Grunseich, Christopher, Bruels, Christine C., Littel, Hannah R., Estrella, Elicia A., Pais, Lynn, Kang, Peter B., Zimmermann, Michael T., Lupski, James R., Lee, Brendan, Schellenberg, Matthew J., Clark, Karl J., Wierenga, Klaas J., Bönnemann, Carsten G., Klee, Eric W.

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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study von Haverfield, Eden V, Esplin, Edward D, Aguilar, Sienna J, Hatchell, Kathryn E, Ormond, Kelly E, Hanson-Kahn, Andrea, Atwal, Paldeep S, Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M, Tucker, Steven, Bleyl, Steven B, Hulick, Peter J, Gordon, Ora K, Velsher, Lea, Gu, Jessica Y. J, Weissman, Scott M, Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L

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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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