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
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism
Guan, Bin, Welch, James M., Sapp, Julie C., Ling, Hua, Li, Yulong, Johnston, Jennifer J., Kebebew, Electron, Biesecker, Leslie G., Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
Johnston, Jennifer J., Gropman, Andrea L., Sapp, Julie C., Teer, Jamie K., Martin, Jodie M., Liu, Cyndi F., Yuan, Xuan, Ye, Zhaohui, Cheng, Linzhao, Brodsky, Robert A., Biesecker, Leslie G.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Quantification of Proteus syndrome-associated lung disease
Ours, Christopher A, Buser, Anna, Hodges, Mia B, Chen, Marcus Y, Sapp, Julie C, Gochuico, Bernadette R, Biesecker, Leslie G
Published in Orphanet journal of rare diseases (06.02.2024)
Published in Orphanet journal of rare diseases (06.02.2024)
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Journal Article
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
Cardiothoracic imaging findings of Proteus syndrome
Mirmomen, S Mojdeh, Arai, Andrew E, Turkbey, Evrim B, Bradley, Andrew J, Sapp, Julie C, Biesecker, Leslie G, Sirajuddin, Arlene
Published in Scientific reports (22.03.2021)
Published in Scientific reports (22.03.2021)
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Journal Article
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach
Dudley, Jeffrey N, Hong, Celine S, Hawari, Marwan A, Shwetar, Jasmine, Sapp, Julie C, Lack, Justin, Shiferaw, Henoke, Johnston, Jennifer J, Biesecker, Leslie G
Published in BMC bioinformatics (08.04.2021)
Published in BMC bioinformatics (08.04.2021)
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Journal Article
Research participants' attitudes towards the confidentiality of genomic sequence information
Jamal, Leila, Sapp, Julie C, Lewis, Katie, Yanes, Tatiane, Facio, Flavia M, Biesecker, Leslie G, Biesecker, Barbara B
Published in European journal of human genetics : EJHG (01.08.2014)
Published in European journal of human genetics : EJHG (01.08.2014)
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Journal Article
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients
Sapp, Julie C., Turner, Joyce T., van de Kamp, Jiddeke M., van Dijk, Fleur S., Lowry, R. Brian, Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
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Journal Article
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
Stewart, Douglas R, Pemov, Alexander, Johnston, Jennifer J, Sapp, Julie C, Yeager, Meredith, He, Ji, Boland, Joseph F, Burdett, Laurie, Brown, Christina, Gatti, Richard A, Alter, Blanche P, Biesecker, Leslie G, Savage, Sharon A
Published in PloS one (03.06.2014)
Published in PloS one (03.06.2014)
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Journal Article
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome
Beachkofsky, Thomas M., CAPT, USAF, MC, FS, Sapp, Julie C., MS, CGC, Biesecker, Leslie G., MD, Darling, Thomas N., MD, PhD
Published in Journal of the American Academy of Dermatology (01.11.2010)
Published in Journal of the American Academy of Dermatology (01.11.2010)
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Journal Article
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Koutlas, Ioannis G., Anbinder, Ana-Lia, Alshagroud, Rana, Rodrigues Cavalcante, Ana Sueli, Al Kindi, Mohammed, Crenshaw, Molly M., Sapp, Julie C., Kondolf, Hannah, Lindhurst, Marjorie J., Dudley, Jeffrey N., Johnston, Jennifer J., Ryan, Elyse, Rafferty, Keith, Ganguly, Arupa, Biesecker, Leslie G.
Published in HGG advances (22.10.2020)
Published in HGG advances (22.10.2020)
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Journal Article
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G
Published in BMC medical genetics (27.07.2011)
Published in BMC medical genetics (27.07.2011)
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Journal Article
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
Published in BMC medical genomics (10.10.2012)
Published in BMC medical genomics (10.10.2012)
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Journal Article
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Lindhurst, Marjorie J, Sapp, Julie C, Teer, Jamie K, Johnston, Jennifer J, Finn, Erin M, Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L, Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A, Everman, David B, Golas, Gretchen, Greenstein, Robert M, Kato, B. Maya, Keppler-Noreuil, Kim M, Kuznetsov, Sergei A, Miyamoto, Richard T, Newman, Kurt, Ng, David, O'Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J, Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H, Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G, Schwartzberg, Pamela L, Darling, Thomas N, Tosi, Laura L, Mullikin, James C, Biesecker, Leslie G
Published in The New England journal of medicine (18.08.2011)
Published in The New England journal of medicine (18.08.2011)
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Journal Article
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Parker, Victoria E R, Keppler-Noreuil, Kim M, Faivre, Laurence, Luu, Maxime, Oden, Neal L, De Silva, Leena, Sapp, Julie C, Andrews, Katrina, Bardou, Marc, Chen, Kong Y, Darling, Thomas N, Gautier, Elodie, Goldspiel, Barry R, Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J, Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I, Widemann, Brigitte C, Wolters, Pamela L, Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K, Biesecker, Leslie G
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Journal Article
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome
Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Darling, Thomas N., Burton-Akright, Jasmine, Bagheri, Mohammadhadi, Dombi, Eva, Gruber, Ashlyn, Jarosinski, Paul F., Martin, Staci, Nathan, Neera, Paul, Scott M., Savage, Ronald E., Wolters, Pamela L., Schwartz, Brian, Widemann, Brigitte C., Biesecker, Leslie G.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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Journal Article
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
Sapp, Julie C, Facio, Flavia M, Cooper, Diane, Lewis, Katie L, Modlin, Emily, van der Wees, Philip, Biesecker, Leslie G
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article