Rong Mao
University of Utah
152 Papers
496 Citations
Rong Mao is an academic researcher from University of Utah. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 31, co-authored 122 publications. Previous affiliations of Rong Mao include Rush University Medical Center & Mayo Clinic.
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Papers
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Viktor Lukacs,Jayanti Mathur,Rong Mao,Rong Mao,Pinar Bayrak-Toydemir,Pinar Bayrak-Toydemir,Melinda Procter,Stuart M. Cahalan,Helen J. Kim,Michael Bandell,Nicola Longo,Ronald W. Day,David A. Stevenson,David A. Stevenson,Ardem Patapoutian,Bryan L. Krock +15 more
TL;DR: This work identifies biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia and delineates a novel clinical category of PIEzO1-associated hereditary lymphOedema.
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
D. Hunter Best,D. Hunter Best,Kelli Sumner,Eric D. Austin,Eric D. Austin,Wendy K. Chung,Lynette M. Brown,Lynette M. Brown,Alain C. Borczuk,Erika B. Rosenzweig,Pinar Bayrak-Toydemir,Rong Mao,Barbara C. Cahill,Henry D. Tazelaar,Kevin O. Leslie,Anna R. Hemnes,Ivan M. Robbins,C. Gregory Elliott,C. Gregory Elliott +18 more
TL;DR: In this article, the authors used exome sequencing to identify a candidate gene for Pulmonary capillary hemangiomatosis (PCH) in a family with two affected brothers.
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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
TL;DR: To assist clinical laboratories in developing and validating testing for this group of inherited colorectal cancers, the American College of Medical Genetics and Genomics has developed the following technical standards and guidelines.
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Edgar A. Rivera-Munoz,Laura V. Milko,Steven M. Harrison,Steven M. Harrison,Danielle R. Azzariti,Danielle R. Azzariti,C. Lisa Kurtz,Kristy Lee,Jessica L. Mester,Meredith A. Weaver,Erin Currey,William J. Craigen,Charis Eng,Birgit Funke,Birgit Funke,Madhuri Hegde,Madhuri Hegde,Ray E. Hershberger,Rong Mao,Rong Mao,Robert D. Steiner,Lisa M. Vincent,Christa Lese Martin,Sharon E. Plon,Erin M. Ramos,Heidi L. Rehm,Heidi L. Rehm,Heidi L. Rehm,Michael S. Watson,Jonathan S. Berg +29 more
TL;DR: The first ClinGen variant curation expert panels (VCEPs), development of consistent and streamlined processes for establishing new VCEPs, and creation of standard operating procedures for VCEs to define application of the ACMG/AMP guidelines for sequence variant interpretation in specific genes or diseases are described.
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
Iris Schrijver,Nazneen Aziz,Daniel H. Farkas,Manohar R. Furtado,Andrea Ferreira Gonzalez,Timothy C. Greiner,Wayne W. Grody,Tina Hambuch,Lisa V. Kalman,Jeffrey A. Kant,Roger D. Klein,Debra G.B. Leonard,Ira M. Lubin,Rong Mao,Narasimhan Nagan,Victoria M. Pratt,Mark E. Sobel,Karl V. Voelkerding,Karl V. Voelkerding,Jane Gibson +19 more
TL;DR: A recent report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing as discussed by the authors, highlighting the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging.
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