Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2016)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2016)
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Journal Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Conference Proceeding
A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome
Sapp, Julie C., Buser, Anna, Burton‐Akright, Jasmine, Keppler‐Noreuil, Kim M., Biesecker, Leslie G.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis
Adam, Aaron P., Curry, Cynthia J., Hall, Judith G., Keppler‐Noreuil, Kim M., Adam, Margaret P., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome
Keppler‐Noreuil, Kim M., Lozier, Jay, Oden, Neal, Taneja, Anjali, Burton‐Akright, Jasmine, Sapp, Julie C., Biesecker, Leslie G.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
LUMBAR syndrome–OEIS complex overlap: A case series and review
Barrios, L., Chamlin, S., Keppler‐Noreuil, Kim M., Rialon, K. L., Austin, Paul, Alhajjat, A., Bowen, D., Metry, Denise W., Siegel, D. H.
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Journal Article
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
Chang, Caitlin A., Perrier, Renee, Kurek, Kyle C., Estrada‐Veras, Juvianee, Lehman, Anna, Yip, Stephen, Hendson, Glenda, Diamond, Carol, Pinchot, Jason W., Tran, Jennifer M., Arkin, Lisa M., Drolet, Beth A., Napier, Melanie P., O'Neill, Sarah A., Balci, Tugce B., Keppler‐Noreuil, Kim M.
Published in American journal of medical genetics. Part A (01.09.2021)
Published in American journal of medical genetics. Part A (01.09.2021)
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Journal Article
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
Johnston, Jennifer J., Sanchez-Contreras, Monica Y., Keppler-Noreuil, Kim M., Sapp, Julie, Crenshaw, Molly, Finch, NiCole A., Cormier-Daire, Valerie, Rademakers, Rosa, Sybert, Virginia P., Biesecker, Leslie G.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Journal Article
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement
Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler‐Noreuil, Kim M., Kuentz, Paul, Mancini, Grazia M. S., Maniere, Marie‐Cecile, Martinez‐Glez, Victor, Parker, Victoria E., Semple, Robert K., Srivastava, Siddharth, Vabres, Pierre, De Wit, Marie‐Claire Y., Graham, John M., Clayton‐Smith, Jill, Mirzaa, Ghayda M., Biesecker, Leslie G.
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Journal Article
Personal journeys to and in human genetics and dysmorphology
Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)
Keppler-Noreuil, Kim M., Adam, Margaret P., Welch, Judy, Muilenburg, Ann, Willing, Marcia C.
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Journal Article
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome
Takyar, Varun, Khattar, Divya, Ling, Alexander, Patel, Rachna, Sapp, Julie C., Kim, Sun A., Auh, Sungyoung, Biesecker, Leslie G., Keppler‐Noreuil, Kim M., Heller, Theo
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Guidelines for case classification for the National Birth Defects Prevention Study
Rasmussen, Sonja A, Olney, Richard S, Holmes, Lewis B, Lin, Angela E, Keppler-Noreuil, Kim M, Moore, Cynthia A
Published in Birth defects research. A Clinical and molecular teratology (01.03.2003)
Published in Birth defects research. A Clinical and molecular teratology (01.03.2003)
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Journal Article
Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome
Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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Journal Article
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation
Gripp, Karen W., Baker, Laura, Kandula, Vinay, Conard, Katrina, Scavina, Mena, Napoli, Joseph A., Griffin, Gregory C., Thacker, Mihir, Knox, Rachel G., Clark, Graeme R., Parker, Victoria E. R., Semple, Robert, Mirzaa, Ghayda, Keppler-Noreuil, Kim M.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Journal Article
Characterization of thrombosis in patients with Proteus syndrome
Keppler‐Noreuil, Kim M., Lozier, Jay N., Sapp, Julie C., Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Journal Article
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum
Reis, Linda M, Amor, David J, Haddad, Raad A, Nowak, Catherine B, Keppler-Noreuil, Kim M, Chisholm, Smith Ann, Semina, Elena V
Published in Genes (01.10.2023)
Published in Genes (01.10.2023)
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Journal Article