Publications by authors named "Julie Sapp"

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Implementing secondary findings analysis in a genetic and environmental research study.
Jennifer J Johnston, Julie C Sapp, Seeley Yoo, Zara Wermers, Sophia Hernandez

Genet Med· September 2025

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Tumour spectrum in -related Proteus syndrome: a systematic review of clinical reports and series.
Olivia M Rostagni, Charlotte Lr Early, Mia B Hodges, Justice O Obasohan, Julie C Sapp

J Med Genet· January 2025

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Quantification of Proteus syndrome-associated lung disease.
Christopher A Ours, Anna Buser, Mia B Hodges, Marcus Y Chen, Julie C Sapp

Orphanet J Rare Dis· February 2024

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Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Kim M Keppler-Noreuil, Jasmine Burton-Akright, David E Kleiner, Julie C Sapp, Marjorie J Lindhurst

Ann Am Thorac Soc· November 2022

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Genomic tools for health: Secondary findings as findings to be shared.
Skye A Miner, Morgan Similuk, Leila Jamal, Julie Sapp, Benjamin E Berkman

Genet Med· November 2022

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Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.
Christopher A Ours, Mia B Hodges, Neal Oden, Julie C Sapp, Leslie G Biesecker

Orphanet J Rare Dis· April 2022

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Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the -related overgrowth spectrum.
Ioannis G Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Julie C Sapp

HGG Adv· January 2022

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A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.
Julie C Sapp, Flavia M Facio, Diane Cooper, Katie L Lewis, Emily Modlin

Genet Med· December 2021

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Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
Christopher A Ours, Julie C Sapp, Mia B Hodges, Allison J de Moya, Leslie G Biesecker

Cold Spring Harb Mol Case Stud· December 2021

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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Malena Daich Varela, Robert B Hufnagel, Bin Guan, Delphine Blain, Julie C Sapp

Ophthalmic Genet· June 2021

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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
Jeffrey N Dudley, Celine S Hong, Marwan A Hawari, Jasmine Shwetar, Julie C Sapp

BMC Bioinformatics· April 2021

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Cardiothoracic imaging findings of Proteus syndrome.
S Mojdeh Mirmomen, Andrew E Arai, Evrim B Turkbey, Andrew J Bradley, Julie C Sapp

Sci Rep· March 2021

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Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Deeti J Pithadia, John W Roman, Julie C Sapp, Leslie G Biesecker, Thomas N Darling

J Am Acad Dermatol· February 2021

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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the -related overgrowth spectrum.
Ioannis G Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Julie C Sapp

HGG Adv· October 2020

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Allelic heterogeneity of Proteus syndrome.
Anna Buser, Marjorie J Lindhurst, Hannah C Kondolf, Miranda R Yourick, Kim M Keppler-Noreuil, Julie C Sapp

Cold Spring Harb Mol Case Stud· June 2020

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Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
Kim M Keppler-Noreuil, Jay Lozier, Neal Oden, Anjali Taneja, Jasmine Burton-Akright, Julie C Sapp

Am J Med Genet C Semin Med Genet· December 2019

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A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.
Julie C Sapp, Anna Buser, Jasmine Burton-Akright, Kim M Keppler-Noreuil, Leslie G Biesecker

Am J Med Genet C Semin Med Genet· December 2019

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Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
Kim M Keppler-Noreuil, Jasmine Burton-Akright, Marjorie J Lindhurst, Jasmine Shwetar, Julie C Sapp

Cold Spring Harb Mol Case Stud· August 2019

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polyadenylation signal variants cause syndromic microphthalmia.
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari

J Med Genet· July 2019

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Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, Thomas N Darling, Jasmine Burton-Akright

Am J Hum Genet· March 2019

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Julie C Sapp

Am J Hum Genet· March 2019

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Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
Varun Takyar, Divya Khattar, Alexander Ling, Rachna Patel, Julie C Sapp

Am J Med Genet A· December 2018

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Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Linda Xu, Hanne Jensen, Jennifer J Johnston, Emilio Di Maria, Katja Kloth, Julie C Sapp

Am J Hum Genet· December 2018

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A Andrews, Paulina Stadnik, Julie C Sapp

J Clin Invest· November 2018

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