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

অনুযায়ী Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
প্রকাশিত 2012

Progressive Overgrowth of the Cerebriform Connective Tissue Nevus in Patients with Proteus Syndrome

অনুযায়ী Beachkofsky, Thomas M., Sapp, Julie C., Biesecker, Leslie G., Darling, Thomas N.
প্রকাশিত 2010

Characterization of Thrombosis in Patients with Proteus Syndrome

অনুযায়ী Keppler-Noreuil, Kim M., Lozier, Jay N., Sapp, Julie C., Biesecker, Leslie G.
প্রকাশিত Am J Med Genet A (2017)

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

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

Assessment and management of the orthopedic and other complications of Proteus syndrome

অনুযায়ী Tosi, Laura L., Sapp, Julie C., Allen, Elizabeth S., O’Keefe, Regis J., Biesecker, Leslie G.
প্রকাশিত 2011

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome

অনুযায়ী Pithadia, Deeti J., Roman, John W., Sapp, Julie C., Biesecker, Leslie G., Darling, Thomas N.
প্রকাশিত J Am Acad Dermatol (2020)

A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome

অনুযায়ী Sapp, Julie C., Buser, Anna, Burton-Akright, Jasmine, Keppler-Noreuil, Kim M., Biesecker, Leslie G.
প্রকাশিত Am J Med Genet C Semin Med Genet (2019)

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

অনুযায়ী Hamlington, Barbara, Ivey, Lauren E., Brenna, Ethan, Biesecker, Leslie G., Biesecker, Barbara B., Sapp, Julie C.
প্রকাশিত PLoS One (2015)

Somatic AKT1 Mutations Cause Meningiomas Colocalizing with a Characteristic Pattern of Cranial Hyperostosis

অনুযায়ী Keppler-Noreuil, Kim M., Baker, Eva H., Sapp, Julie C., Lindhurst, Marjorie J., Biesecker, Leslie G.
প্রকাশিত Am J Med Genet A (2016)

Quantifying survival in Patients with Proteus Syndrome

অনুযায়ী Sapp, Julie C., Hu, Lian, Zhao, Jean, Gruber, Ashlyn, Schwartz, Brian, Ferrari, Dora, Biesecker, Leslie G.
প্রকাশিত Genet Med (2017)

Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children

অনুযায়ী Sapp, Julie C., Dong, Danielle, Stark, Caryn, Ivey, Lauren E., Hooker, Gillian, Biesecker, Leslie G., Biesecker, Barbara B.
প্রকাশিত 2013

Research participants' attitudes towards the confidentiality of genomic sequence information

অনুযায়ী Jamal, Leila, Sapp, Julie C, Lewis, Katie, Yanes, Tatiane, Facio, Flavia M, Biesecker, Leslie G, Biesecker, Barbara B
প্রকাশিত Eur J Hum Genet (2014)

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

অনুযায়ী Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
প্রকাশিত Hum Genome Var (2016)

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

অনুযায়ী Sapp, Julie C., Nishimura, Darryl, Johnston, Jennifer J., Stone, Edwin M., Héon, Elise, Sheffield, Val C., Biesecker, Leslie G.
প্রকাশিত 2010

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

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

Cardiothoracic imaging findings of Proteus syndrome

অনুযায়ী Mirmomen, S. Mojdeh, Arai, Andrew E., Turkbey, Evrim B., Bradley, Andrew J., Sapp, Julie C., Biesecker, Leslie G., Sirajuddin, Arlene
প্রকাশিত Sci Rep (2021)

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes

অনুযায়ী Keppler-Noreuil, Kim M., Burton-Akright, Jasmine, Lindhurst, Marjorie J., Shwetar, Jasmine, Sapp, Julie C., Darling, Thomas, Biesecker, Leslie G.
প্রকাশিত Cold Spring Harb Mol Case Stud (2019)

Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

অনুযায়ী Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
প্রকাশিত Am J Med Genet A (2013)

Allelic heterogeneity of Proteus syndrome

অনুযায়ী Buser, Anna, Lindhurst, Marjorie J., Kondolf, Hannah C., Yourick, Miranda R., Keppler-Noreuil, Kim M., Sapp, Julie C., Biesecker, Leslie G.
প্রকাশিত Cold Spring Harb Mol Case Stud (2020)

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

অনুযায়ী Dudley, Jeffrey N., Hong, Celine S., Hawari, Marwan A., Shwetar, Jasmine, Sapp, Julie C., Lack, Justin, Shiferaw, Henoke, Johnston, Jennifer J., Biesecker, Leslie G.
প্রকাশিত BMC Bioinformatics (2021)