Search Results - "Sapp, Julie C."

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation by 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.

“…Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the…”
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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism by 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.

“…Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting…”
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The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria by 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.

“…Phosphatidylinositol glycan class A (PIGA) is involved in the first step of glycosylphosphatidylinositol (GPI) biosynthesis. Many proteins, including CD55 and…”
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Quantification of Proteus syndrome-associated lung disease by Ours, Christopher A, Buser, Anna, Hodges, Mia B, Chen, Marcus Y, Sapp, Julie C, Gochuico, Bernadette R, Biesecker, Leslie G

“…Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that…”
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A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome by Sapp, Julie C., Buser, Anna, Burton‐Akright, Jasmine, Keppler‐Noreuil, Kim M., Biesecker, Leslie G.

“…Phenotype‐based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was…”
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Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome by Ours, Christopher A, Hodges, Mia B, Oden, Neal, Sapp, Julie C, Biesecker, Leslie G

“…Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and…”
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Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome by Hamlington, Barbara, Ivey, Lauren E, Brenna, Ethan, Biesecker, Leslie G, Biesecker, Barbara B, Sapp, Julie C

“…A child's obesity is generally perceived by the public to be under the control of the child's parents. While the health consequences of childhood obesity are…”
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Cardiothoracic imaging findings of Proteus syndrome by Mirmomen, S. Mojdeh, Arai, Andrew E., Turkbey, Evrim B., Bradley, Andrew J., Sapp, Julie C., Biesecker, Leslie G., Sirajuddin, Arlene

“…In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53…”
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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach by Dudley, Jeffrey N, Hong, Celine S, Hawari, Marwan A, Shwetar, Jasmine, Sapp, Julie C, Lack, Justin, Shiferaw, Henoke, Johnston, Jennifer J, Biesecker, Leslie G

“…The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic…”
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Research participants' attitudes towards the confidentiality of genomic sequence information by Jamal, Leila, Sapp, Julie C, Lewis, Katie, Yanes, Tatiane, Facio, Flavia M, Biesecker, Leslie G, Biesecker, Barbara B

“…Respecting the confidentiality of personal data contributed to genomic studies is an important issue for researchers using genomic sequencing in humans…”
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Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients by Sapp, Julie C., Turner, Joyce T., van de Kamp, Jiddeke M., van Dijk, Fleur S., Lowry, R. Brian, Biesecker, Leslie G.

“…We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder…”
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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders by 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

“…Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk…”
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Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome by Beachkofsky, Thomas M., CAPT, USAF, MC, FS, Sapp, Julie C., MS, CGC, Biesecker, Leslie G., MD, Darling, Thomas N., MD, PhD

“…Background Proteus syndrome is a rare overgrowth disorder that almost always affects the skin. Objective Our purpose was to evaluate progression of skin…”
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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum by 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.

“…Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous…”
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Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) by Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G

“…Bardet-Biedl syndrome (BBS) is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of…”
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Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research by Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G

“…Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the…”
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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome by 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

“…The Proteus syndrome affects some tissues and not others and is thought to be caused by a somatic mutation. Investigators found that the mutation is caused by…”
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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum by 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.

“…Purpose PIK3CA -related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating…”
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Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome by 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.

“…Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for…”
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants by Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G

“…Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome. Methods Families underwent phenotyping for features of Noonan syndrome…”
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