Julie C. Sapp

发表

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

Celine S. Hong, Leslie G. Biesecker, Jeffrey N. Dudley, 2021, BMC Bioinformatics.

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

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Linzhao Cheng, Xuan Yuan, Leslie G. Biesecker, 2012, American journal of human genetics.

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

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

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

Leslie G. Biesecker, Douglas R. Stewart, Meredith Yeager, 2014, PloS one.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Julie C. Sapp, J. Mullikin, S. Wientroub, 2011, The New England journal of medicine.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Lisa T. Emrick, Julie C. Sapp, J. Rosenfeld, 2017, Genetics in Medicine.

Genomic tools for health: Secondary findings as findings to be shared.

Julie C. Sapp, B. Berkman, L. Jamal, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser–Winter Syndrome

Julie C. Sapp, L. Biesecker, J. Johnston, 2013, Human Mutation.

Myocardial fat overgrowth in Proteus syndrome

Julie C. Sapp, A. Arai, L. Biesecker, 2015, American journal of medical genetics. Part A.

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

Julie C. Sapp, L. Biesecker, P. J. van der Wees, 2021, Genetics in Medicine.

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

Julie C. Sapp, L. Biesecker, J. Graham, 2015, Human Genome Variation.

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.

Julie C. Sapp, L. Biesecker, J. Sapp, 2020, Journal of the American Academy of Dermatology.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Julie C. Sapp, L. Biesecker, M. Topf, 2018, The Journal of clinical investigation.

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

Julie C. Sapp, L. Biesecker, G. Hooker, 2014, Clinical genetics.

Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome

Julie C. Sapp, L. Biesecker, K. Keppler-Noreuil, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Cognitive, sensory, and psychosocial characteristics in patients with Bardet–Biedl syndrome

Julie C. Sapp, L. Biesecker, J. Johnston, 2013, American journal of medical genetics. Part A.

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Julie C. Sapp, L. Biesecker, J. Johnston, 2021, Ophthalmic genetics.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2015, American journal of human genetics.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Julie C. Sapp, S. O’Rahilly, L. Biesecker, 2012, Nature Genetics.

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, L. Biesecker, J. M. van de Kamp, 2007, American journal of medical genetics. Part A.

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

Julie C. Sapp, R. Whitehouse, L. Biesecker, 2014, American journal of medical genetics. Part A.

Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins

Julie C. Sapp, T. Marteau, B. Biesecker, 2009, Prenatal diagnosis.

Research participants’ attitudes towards the confidentiality of genomic sequence information

Leslie G Biesecker, Katie Lewis, Flavia M Facio, 2013, European Journal of Human Genetics.

Julie C. Sapp, L. Biesecker, W. Dobyns, 2015, American journal of medical genetics. Part A.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Julie C. Sapp, L. Biesecker, Julie Harris, 2018, Genetics in Medicine.

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

Julie C. Sapp, L. Biesecker, N. Oden, 2022, Orphanet Journal of Rare Diseases.

Characterization of thrombosis in patients with Proteus syndrome

Julie C. Sapp, L. Biesecker, K. Keppler-Noreuil, 2017, American journal of medical genetics. Part A.

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

Julie C. Sapp, L. Biesecker, J. Johnston, 2011, The Journal of clinical endocrinology and metabolism.

Cardiothoracic imaging findings of Proteus syndrome

Julie C. Sapp, A. Arai, L. Biesecker, 2021, Scientific Reports.

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.

Julie C. Sapp, L. Biesecker, T. Darling, 2010, Journal of American Academy of Dermatology.

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.

Julie C. Sapp, L. Biesecker, S. Paul, 2019, American journal of human genetics.

Quantifying survival in Patients with Proteus Syndrome

Julie C. Sapp, L. Biesecker, Jean J. Zhao, 2017, Genetics in Medicine.

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

Julie C. Sapp, L. Biesecker, J. Sapp, 2021, Cold Spring Harbor molecular case studies.

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

Julie C. Sapp, L. Biesecker, K. Keppler-Noreuil, 2019, Cold Spring Harbor molecular case studies.

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

Julie C. Sapp, L. Biesecker, R. O’Keefe, 2011, Journal of children's orthopaedics.

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

Julie C. Sapp, L. Biesecker, B. Biesecker, 2015, PloS one.

Hyperphagia among patients with Bardet‐Biedl syndrome

Julie C. Sapp, L. Biesecker, J. Yanovski, 2013, Pediatric obesity.

Allelic heterogeneity of Proteus syndrome.

Julie C. Sapp, L. Biesecker, K. Keppler-Noreuil, 2020, Cold Spring Harbor molecular case studies.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome

Julie C. Sapp, L. Biesecker, K. Keppler-Noreuil, 2018, American journal of medical genetics. Part A.

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

Julie C. Sapp, L. Biesecker, E. Baker, 2016, American journal of medical genetics. Part A.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2018, American journal of human genetics.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Julie C. Sapp, L. Biesecker, J. Johnston, 2016, American journal of human genetics.

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jeffrey N. Dudley, Julie C. Sapp, R. Holt, 2019, Journal of Medical Genetics.