Patricia A. Zornio

Most-cited papers

1. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

   Julia Wang, Rami Al-ouran, Yan-Hui Hu, Seon-Young Kim +180 more

   2017American Journal of Human Genetics194 citations Open access

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2. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

   R. Ramoni, J. Mulvihill, David R. Adams, Patrick Allard +175 more

   2017American Journal of Human Genetics177 citations Open access

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3. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

   Hsiao-Tuan Chao, M. Davids, Elizabeth A. Burke, J. Pappas +176 more

   2017American Journal of Human Genetics111 citations Open access

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4. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

   V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more

   2016American Journal of Human Genetics58 citations Open access

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5. Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

   T. Cassini, L. Duncan, Lynette C. Rives, J. Newman +177 more

   2019Molecular Genetics & Genomic Medicine24 citations Open access

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6. Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

   Diane B. Zastrow, Patricia A. Zornio, Annika M. Dries, Jennefer N. Kohler +10 more

   2017Cold Spring Harbor molecular case studies7 citations Open access

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