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Pamela Trapane

Medical College of Wisconsin

10

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205

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Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

2021 Clinical Case Reports
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A low penetrance, late-truncating SALL1 variant is associated with a mild phenotype of Townes-Brock syndrome in heterozygotes

2021 Molecular Genetics and Metabolism
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

2020 European Journal of Human Genetics
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Hypermobility Syndromes in Heavy Menstrual Bleeding

2020
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

2010 European Journal of Human Genetics
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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

2009 Human Genetics
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The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia

2008 American Journal of Medical Genetics Part A
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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A.

2008
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Mutation Analysis of B3GALTL in Peters Plus Syndrome

2008 American Journal of Medical Genetics Part A
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A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature

2007 Cancer Genetics and Cytogenetics
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