Rong Mao
University of Utah
Publications 117
#1Wei Shen (ARUP Laboratories)H-Index: 2
#2Josue Flores-Daboub (UofU: University of Utah)H-Index: 1
Last.Rong Mao (ARUP Laboratories)H-Index: 25
view all 6 authors...
Somatic overgrowth syndromes (SOS) comprise a group of disorders that are characterised by excessive tissue growth caused by mosaic variants in genes involved in regulating cell growth/cell cycle. For example, somatic mutations in PIK3CA/AKT1 pathway cause multiple asymmetric overgrowth disorders including CLOVES syndrome, Klippel–Trenaunay syndrome, megalencephaly capillary malformation syndrome, Proteus syndrome, megalencephaly polymicrogyria polydactyly hydrocephalus syndrome and hemihyperpla...
#1Winston HaynesH-Index: 13
#2David J. HaddonH-Index: 4
Last.Paul J. UtzH-Index: 49
view all 11 authors...
#1Winston Haynes (Stanford University)H-Index: 13
#2D. James Haddon (Stanford University)H-Index: 7
Last.Purvesh Khatri (Stanford University)H-Index: 36
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Systemic lupus erythematosus (SLE) is a complex autoimmune disease that follows an unpredictable disease course and affects multiple organs and tissues. We performed an integrated, multi-cohort analysis of 7,471 transcriptomic profiles from 40 independent studies to identify robust gene expression changes associated with SLE. We identified a 93-gene signature (SLE MetaSignature) that is differentially expressed in the blood of SLE patients compared to healthy volunteers; distinguishes SLE from o...
(The American Journal of Human Genetics 105, 413–424; August 1, 2019) In the originally published version of this article, Figures 3B and 3C included the allele name “sisy” but the correct term is “wrd37,” as appears in the rest of the article. In addition, there are two edits in Figure 3A: Thr125 has been highlighted instead of Thr124 and “Patient variants” has been changed to “Protein variants.” All these changes are reflected in the figure below and in the article online. The authors regret t...
#1Oguz Kanca (BCM: Baylor College of Medicine)H-Index: 9
#2Jonathan C. Andrews (BCM: Baylor College of Medicine)H-Index: 1
Last.William B. Dobyns (Seattle Children's Research Institute)H-Index: 96
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WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability,...
2 CitationsSource
#1Jennifer L. McGlaughon (UNC: University of North Carolina at Chapel Hill)H-Index: 2
#2Marzia Pasquali (UofU: University of Utah)H-Index: 28
Last.Heather Baudet (UNC: University of North Carolina at Chapel Hill)H-Index: 1
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Abstract Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need for a thorough evaluation of genes implicated in FAO disorders. Using the ClinGen (Clinical Genome Resource) clinical validity framework, thirty genes were analyzed for the strength of evidence supporting their association with FAO disorders. ...
#1Luca Brunelli (UofU: University of Utah)H-Index: 6
#2Sabrina Malone Jenkins (UofU: University of Utah)H-Index: 1
Last.Rong Mao (ARUP Laboratories)H-Index: 25
view all 20 authors...
#1Rebecca L. Margraf (ARUP Laboratories)H-Index: 16
#2Chad VanSant-Webb (ARUP Laboratories)H-Index: 2
Last.David A. Stevenson (Stanford University)H-Index: 34
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Scoliosis is a common manifestation of neurofibromatosis type 1, causing significant morbidity. The etiology of dystrophic scoliosis in neurofibromatosis type 1 is not fully understood and therapies are lacking. Somatic mutations in NF1 have been shown in tibial pseudarthrosis providing rationale for similar processes in neurofibromatosis type 1–associated dystrophic scoliosis. Spinal samples from surgical procedures with matched peripheral blood of two individuals with neurofibromatosis type 1 ...
#1Laura V. Milko (UNC: University of North Carolina at Chapel Hill)H-Index: 7
#2Birgit Funke (Partners HealthCare)H-Index: 39
Last.Jonathan S. Berg (UNC: University of North Carolina at Chapel Hill)H-Index: 40
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The Clinical Genome Resource (ClinGen) is supported by the National Institutes of Health (NIH) to develop expertly curated and freely accessible resources defining the clinical relevance of genes and variants for use in precision medicine and research. To facilitate expert input, ClinGen has formed Clinical Domain Working Groups (CDWGs) to leverage the collective knowledge of clinicians, laboratory diagnosticians, and researchers. In the initial phase of ClinGen, CDWGs were launched in the cardi...
4 CitationsSource
#1Celeste Eno (UCLA: University of California, Los Angeles)H-Index: 1
#2Pinar Bayrak-Toydemir (UofU: University of Utah)H-Index: 23
Last.Joshua L. Deignan (UCLA: University of California, Los Angeles)H-Index: 17
view all 19 authors...
Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting...
1 CitationsSource