Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
Orloff, Mohammed S., He, Xin, Peterson, Charissa, Chen, Fusong, Chen, Jin-Lian, Mester, Jessica L., Eng, Charis
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Journal Article
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer
Yehia, Lamis, Niazi, Farshad, Ni, Ying, Ngeow, Joanne, Sankunny, Madhav, Liu, Zhigang, Wei, Wei, Mester, Jessica L., Keri, Ruth A., Zhang, Bin, Eng, Charis
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Journal Article
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
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.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
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
Published in Genome medicine (18.01.2022)
Published in Genome medicine (18.01.2022)
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Journal Article
Lifetime Cancer Risks in Individuals with Germline PTEN Mutations
T, Min-Han, MESTER, Jessica L, NGEOW, Joanne, RYBICKI, Lisa A, ORLOFF, Mohammed S, ENG, Charis
Published in Clinical cancer research (15.01.2012)
Published in Clinical cancer research (15.01.2012)
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Journal Article
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
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
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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
Published in Genome medicine (31.12.2019)
Published in Genome medicine (31.12.2019)
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Journal Article
Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome
Mester, Jessica L, Zhou, Ming, Prescott, Nichole, Eng, Charis
Published in Urology (Ridgewood, N.J.) (01.05.2012)
Published in Urology (Ridgewood, N.J.) (01.05.2012)
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Journal Article
Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study
Mahdi, Haider, Mester, Jessica L., Nizialek, Emily A., Ngeow, Joanne, Michener, Chad, Eng, Charis
Published in Cancer (01.03.2015)
Published in Cancer (01.03.2015)
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Journal Article
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly
Hobert, Judith A, Embacher, Rebecca, Mester, Jessica L, Frazier, 2nd, Thomas W, Eng, Charis
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines
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
Published in Human molecular genetics (08.04.2024)
Published in Human molecular genetics (08.04.2024)
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Journal Article
Germline PARP4 mutations in patients with primary thyroid and breast cancers
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
Published in Endocrine-related cancer (01.03.2016)
Published in Endocrine-related cancer (01.03.2016)
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Journal Article
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma
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
Published in Molecular cancer research (01.09.2013)
Published in Molecular cancer research (01.09.2013)
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Journal Article
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
Mester, Jessica L., Jackson, Sarah A., Postula, Kristen, Stettner, Amy, Solomon, Sheila, Bissonnette, Jeffrey, Murphy, Patricia D., Klein, Rachel T., Hruska, Kathleen S.
Published in The Journal of molecular diagnostics : JMD (01.03.2020)
Published in The Journal of molecular diagnostics : JMD (01.03.2020)
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Journal Article
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
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
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Journal Article
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
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
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
MESTER, Jessica L, TILOT, Amanda K, RYBICKI, Lisa A, FRAZIER, Thomas W, ENG, Charis
Published in European journal of human genetics : EJHG (01.07.2011)
Published in European journal of human genetics : EJHG (01.07.2011)
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Journal Article
Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate-Load Colorectal Polyps
Ngeow, Joanne, Heald, Brandie, Rybicki, Lisa A, Orloff, Mohammed S, Chen, Jin Lian, Liu, Xiuli, Yerian, Lisa, Willis, Joseph, Lehtonen, Heli J, Lehtonen, Rainer, Mester, Jessica L, Moline, Jessica, Burke, Carol A, Church, James, Aaltonen, Lauri A, Eng, Charis
Published in Gastroenterology (New York, N.Y. 1943) (01.06.2013)
Published in Gastroenterology (New York, N.Y. 1943) (01.06.2013)
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