Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

por Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
Publicado 2012

Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome

por Ours, Christopher A., Hodges, Mia B., Oden, Neal, Sapp, Julie C., Biesecker, Leslie G.
Publicado 2022

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

por Ulucan, Hakan, Gül, Davut, Sapp, Julie C, Cockerham, John, Johnston, Jennifer J, Biesecker, Leslie G
Publicado 2008

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

por Hamlington, Barbara, Ivey, Lauren E., Brenna, Ethan, Biesecker, Leslie G., Biesecker, Barbara B., Sapp, Julie C.
Publicado 2015

Quantifying survival in Patients with Proteus Syndrome

por Sapp, Julie C., Hu, Lian, Zhao, Jean, Gruber, Ashlyn, Schwartz, Brian, Ferrari, Dora, Biesecker, Leslie G.
Publicado 2017

Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome

por Ours, Christopher A., Sapp, Julie C., Hodges, Mia B., de Moya, Allison J., Biesecker, Leslie G.
Publicado 2021

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

por Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Publicado 2016

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

por Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G
Publicado 2011

Cardiothoracic imaging findings of Proteus syndrome

por Mirmomen, S. Mojdeh, Arai, Andrew E., Turkbey, Evrim B., Bradley, Andrew J., Sapp, Julie C., Biesecker, Leslie G., Sirajuddin, Arlene
Publicado 2021

A systematic literature review of disclosure practices and reported outcomes for medically-actionable genomic secondary findings

por Sapp, Julie C., Facio, Flavia M., Cooper, Diane, Lewis, Katie L., Modlin, Emily, van der Wees, Philip, Biesecker, Leslie G.
Publicado 2021

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

por Dudley, Jeffrey N., Hong, Celine S., Hawari, Marwan A., Shwetar, Jasmine, Sapp, Julie C., Lack, Justin, Shiferaw, Henoke, Johnston, Jennifer J., Biesecker, Leslie G.
Publicado 2021

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)

por Waberski, Marta Biderman, Lindhurst, Marjorie, Keppler-Noreuil, Kim M., Sapp, Julie C., Baker, Laura, Gripp, Karen W., Adams, Denise M., Biesecker, Leslie G.
Publicado 2018

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

por Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Publicado 2015

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

por Johnston, Jennifer J., Lee, Chanjae, Wentzensen, Ingrid M., Parisi, Melissa A., Crenshaw, Molly M., Sapp, Julie C., Gross, Jeffrey M., Wallingford, John B., Biesecker, Leslie G.
Publicado 2017

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

por Varela, Malena Daich, Hufnagel, Robert B., Guan, Bin, Blain, Delphine, Sapp, Julie C., Gropman, Andrea L., Alur, Ramakrishna, Johnston, Jennifer J., Biesecker, Leslie G., Brooks, Brian P.
Publicado 2021

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

por 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.
Publicado 2014

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

por 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.
Publicado 2021

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

por 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.
Publicado 2020

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

por Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Publicado 2011

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

por Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, 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, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Publicado 2014