Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes von Orloff, Mohammed S., He, Xin, Peterson, Charissa, Chen, Fusong, Chen, Jin-Lian, Mester, Jessica L., Eng, Charis

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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation... von Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.

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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer von Yehia, Lamis, Niazi, Farshad, Ni, Ying, Ngeow, Joanne, Sankunny, Madhav, Liu, Zhigang, Wei, Wei, Mester, Jessica L., Keri, Ruth A., Zhang, Bin, Eng, Charis

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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines von Preston, Christine G, Wright, Matt W, Madhavrao, Rao, Harrison, Steven M, Goldstein, Jennifer L, Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E, Tong, Howard, Cheng, Shaung, Iacocca, Michael A, Pineda, Arturo Lopez, Popejoy, Alice B, Dalton, Karen, Zhen, Jimmy, Dwight, Selina S, Babb, Lawrence, DiStefano, Marina, O'Daniel, Julianne M, Lee, Kristy, Riggs, Erin R, Zastrow, Diane B, Mester, Jessica L, Ritter, Deborah I, Patel, Ronak Y, Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S, Rehm, Heidi L, Plon, Sharon E, Cherry, J Michael, Bustamante, Carlos D, Costa, Helio A

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Lifetime Cancer Risks in Individuals with Germline PTEN Mutations von T, Min-Han, MESTER, Jessica L, NGEOW, Joanne, RYBICKI, Lisa A, ORLOFF, Mohammed S, ENG, Charis

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Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations von NGEOW, Joanne, STANUCH, Kim, MESTER, Jessica L, BARNHOLTZ-SLOAN, Jill S, ENG, Charis

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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel von Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz‐Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework von Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S

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Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome von Mester, Jessica L, Zhou, Ming, Prescott, Nichole, Eng, Charis

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Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study von Mahdi, Haider, Mester, Jessica L., Nizialek, Emily A., Ngeow, Joanne, Michener, Chad, Eng, Charis

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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly von Hobert, Judith A, Embacher, Rebecca, Mester, Jessica L, Frazier, 2nd, Thomas W, Eng, Charis

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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines von Fortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S, Pesaran, Tina, Yussuf, Amal, Mester, Jessica L, Hruska, Kathleen S, Hiraki, Susan, O’Connor, Robert, Chan, Raymond C, Kim, Serra, Tavtigian, Sean V, Goldgar, David, James, Paul A, Spurdle, Amanda B

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A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma von Farley, Megan N, Schmidt, Laura S, Mester, Jessica L, Pena-Llopis, Samuel, Pavia-Jimenez, Andrea, Christie, Alana, Vocke, Cathy D, Ricketts, Christopher J, Peterson, James, Middelton, Lindsay, Kinch, Lisa, Grishin, Nick, Merino, Maria J, Metwalli, Adam R, Xing, Chao, Xie, Xian-Jin, Dahia, Patricia L M, Eng, Charis, Linehan, W Marston, Brugarolas, James

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Germline PARP4 mutations in patients with primary thyroid and breast cancers von Ikeda, Yuji, Kiyotani, Kazuma, Yew, Poh Yin, Kato, Taigo, Tamura, Kenji, Yap, Kai Lee, Nielsen, Sarah M, Mester, Jessica L, Eng, Charis, Nakamura, Yusuke, Grogan, Raymon H

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao (趙孝端), Hsiao-Tuan

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Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing von Mester, Jessica L., Jackson, Sarah A., Postula, Kristen, Stettner, Amy, Solomon, Sheila, Bissonnette, Jeffrey, Murphy, Patricia D., Klein, Rachel T., Hruska, Kathleen S.

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao-Tuan

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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation von Hatton, Jessica N., Frone, Megan N., Cox, Hannah C., Crowley, Stephanie B., Hiraki, Susan, Yokoyama, Noriko N., Abul-Husn, Noura S., Amatruda, James F., Anderson, Michael J., Bofill-De Ros, Xavier, Carr, Ann G., Chao, Elizabeth C., Chen, Kenneth S., Gu, Shuo, Higgs, Cecilia, Machado, Jerry, Ritter, Deborah, Schultz, Kris Ann P., Soper, Emily R., Wu, Mona K., Mester, Jessica L., Kim, Jung, Foulkes, William D., Witkowski, Leora, Stewart, Douglas R.

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PTEN Germline Mutations in Patients Initially Tested for Other Hereditary Cancer Syndromes: Would Use of Risk Assessment Tools Reduce Genetic Testing? von Mester, Jessica L., Moore, Rebekah A., Eng, Charis

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Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model von Mester, Jessica L, Tilot, Amanda K, Rybicki, Lisa A, Frazier, Thomas W, Eng, Charis

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