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

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.287-295

2015

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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

American journal of human genetics, 2016-11, Vol.99 (5), p.1034-1044

2016

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The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

American journal of human genetics, 2012-02, Vol.90 (2), p.295-300

2012

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Quantification of Proteus syndrome-associated lung disease

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.44-44, Article 44

2024

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.565-570

2019

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

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.173-173, Article 173

2022

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

PloS one, 2015-10, Vol.10 (10), p.e0140705-e0140705

2015

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Cardiothoracic imaging findings of Proteus syndrome

Scientific reports, 2021-03, Vol.11 (1), p.6577-6577, Article 6577

2021

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

BMC bioinformatics, 2021-04, Vol.22 (1), p.181-181, Article 181

2021

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Research participants' attitudes towards the confidentiality of genomic sequence information

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.964-968

2014

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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

PloS one, 2014-06, Vol.9 (6), p.e98686-e98686

2014

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

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2944-2958

2007

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

Journal of the American Academy of Dermatology, 2010-11, Vol.63 (5), p.799-804

2010

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

BMC medical genetics, 2011-07, Vol.12 (1), p.101-101, Article 101

2011

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

HGG advances, 2020-10, Vol.1 (1), p.100009-100009, Article 100009

2020

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619

2011

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Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

American journal of human genetics, 2019-03, Vol.104 (3), p.484-491

2019

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

Genetics in medicine, 2021-12, Vol.23 (12), p.2260-2269

2021

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

BMC medical genomics, 2012-10, Vol.5 (1), p.45-45, Article 45

2012

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Quantifying survival in patients with Proteus syndrome

Genetics in medicine, 2017-12, Vol.19 (12), p.1376-1379

2017

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Hypertrichotic patches as a mosaic manifestation of Proteus syndrome

Journal of the American Academy of Dermatology, 2021-02, Vol.84 (2), p.415-424

2021

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1713-1733

2014

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

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Quantification of Proteus syndrome-associated lung disease

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

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

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

Cardiothoracic imaging findings of Proteus syndrome

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

Research participants' attitudes towards the confidentiality of genomic sequence information

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

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

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

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

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

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

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

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

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

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

Quantifying survival in patients with Proteus syndrome

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

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