Mao, Rong , MD

Journal Article

1. Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N (2018 Jun 20). Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.LID - 10.1007/8904_2018_111 [doi]. (Epub ahead of print) JIMD Rep.
2. Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE (2017 Jun). Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. Arch Pathol Lab Med, 141(6), 787-797.
3. Hegde M, Santani A, Mao R, Ferreira-Gonzalez A, Weck KE, Voelkerding KV (2017 Jun). Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease. Arch Pathol Lab Med, 141(6), 798-805.
4. Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, DAstous J, Viskochil D, Stevenson DA, Mao R (2017 May). Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis. J Mol Diagn, 19(3), 468-474.
5. Brunelli L, Mao R, Jenkins SM, Bleyl SB, Dames SA, Miller CE, Ostrander B, Tvrdik T, Andrews S, Flores J, Patel S, Gudgeon JM, Schaefer S (2017 May 12). A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.LID - 10.1002/ajmg.a.38259 [doi]. (Epub ahead of print) Am J Med Genet A.
6. Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N (2017 Dec). Functional and molecular studies in primary carnitine deficiency. Hum Mutat, 38(12), 1684-1699.
7. Procter M, Wolf B, Mao R (2016 Mar). Forty-eight novel mutations causing biotinidase deficiency. Mol Genet Metab, 117(3), 369-72.
8. Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y (2016 Sep). Creatine transporter deficiency: Novel mutations and functional studies. Mol Genet Metab Rep, 8, 20-3.
9. Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ, Elefteriou F, Hennessey T, Mao R (2015 Apr). Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. J Med Genet, 52(4), 256-61.
10. Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R (2015 Mar). Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology. J Mol Diagn, 17(2), 107-17.
11. Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A (2015 May). Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A, 167(5), 1026-32.
12. Ardon O, Procter M, Tvrdik T, Longo N, Mao R (2014). Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. Mol Genet Metab Rep, 1, 71-84.
13. Ardon O, and Procter M, Tvrdik T, Longo N, Mao R (). Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. Mol Genet Metab, 1, 71-84.
14. Best DH, Sumner KL, Austin ED, Chung WK, Brown LM, Borczuk AC, Rosenzweig EB, Bayrak-Toydemir P, Mao R, Cahill BC, Tazelaar HD, Leslie KO, Hemnes AR, Robbins IM, Elliott CG (2014 Feb). EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest, 145(2), 231-6.
15. Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A (2014 Jan). ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med, 16(1), 101-16.
16. Suh-Lailam BB, Procter M, Krautscheid P, Haas J, Kumar S, Mao R, Grenache DG (2014 May). Challenging identification of a novel PiISF and the rare PiMmaltonZ alpha1-antitrypsin deficiency variants in two patients. Am J Clin Pathol, 141(5), 742-6.
17. Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, Rios JJ (2014 Dec). Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. J Bone Miner Res, 29(12), 2636-42.
18. Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH (2014 Sep). Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing. J Mol Diagn, 16(5), 477-80.
19. Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF (2014 Nov). Neural tube defects and atypical deletion on 22q11.2. Am J Med Genet A, 164A(11), 2701-6.
20. Procter M, Wolf B, Crockett DK, Mao R (2013 Mar 11). The Biotinidase Gene Variants Registry: A Paradigm Public Database.LID - g3.113.005835v1 [pii]LID - 10.1534/g3.113.005835 [doi]. (Epub ahead of print) G3 (Bethesda).
21. Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R (2013 Jul). The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. J Mol Diagn, 15(4), 526-34.
22. Sangle NA, Mao R, Shetty S, Schiffman JD, Dechet C, Layfield L, Agarwal N, Liu T (2013 Oct-Dec). Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma. Indian J Pathol Microbiol, 56(4), 428-33.
23. Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B (). A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1. Am J Med Genet A, 161, 467-72.
24. Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV (). Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. J Clin Bioinforma, 3(1), 3.
25. Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K (). Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. Hum Mutat, 33(7), 1107-15.
26. Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E (). Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. Eur J Hum Genet, 20(6), 618-25.
27. Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS (). Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the association for molecular pathology. J Mol Diagn, 14(6), 525-40.
28. Greene DN, Procter M, Krautscheid P, Mao R, Lyon E, Grenache DG (2012 Jan). alpha1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Chest, 141(1), 239-41.
29. Whittington JE, Pham HD, Procter M, Grenache DG, Mao R (2012 Mar). A patient with prolonged paralysis. Clin Chem, 58(3), 496-500.
30. Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R (2011 Nov). The SPRED1 Variants Repository for Legius Syndrome. G3 (Bethesda), 1(6), 451-6.
31. Gibson J, Aziz N, Bayrak-Toydemir P, Cotter P, Farkas DH, Ferreira-Gonzalez A, Furtado M, Greiner TC, Hambuch T, Diego S, Klein RD, Leonard DG, Lyon E, Mann KP, Mao R, Nagan N, Pratt VM, Schrijver I, Sobel ME, Voelkerding KV, Williams MS (). The Association for Molecular Pathology's approach to supporting a global agenda to embrace personalized genomic medicine. J Mol Diagn, 13(3), 249-51.
32. Greene DN, Procter M, Grenache DG, Lyon E, Bornhorst JA, Mao R (2011 Jul 15). Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis. Clin Chim Acta, 412(15-16), 1454-6.
33. Svensson AM, Chou LS, Meadows C, Miller CE, Palais R, Sumner K, Wayman TC, Mao R, Lyon E (). Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden. Genet Test Mol Biomarkers, 15(4), 207-13.
34. Parnas ML, Procter M, Schwarz MA, Mao R, Grenache DG (). Concordance of butyrlcholinesterase phenotype with genotype: Implications for biochemical reporting. Am J Clin Pathol, 135(2), 271-276.
35. Stevenson D, Schwarz E, Carey J, Viskochil D, Hanson H, Bauer S, Cindy Weng HY, Greene T, Reinker K, Swensen J, Chan R, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M (). Bone resorption in syndromes of the Ras/MAPK pathway. Clin Genet, 80(6), 566-73.
36. Margraf RL, Durtschi JD, Dames S, Pattison DC, Stephens JE, Mao R, Voelkerding KV (2010 Sep). Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development. J Biomol Tech, 21(3), 126-40.
37. Chou LS, Liu CS, Boese B, Zhang X, Mao R (2010 Jan). DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin Chem, 56(1), 62-72.
38. Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA (). NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. Am J Med Genet A, 152A(8), 1973-1978.
39. Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E (). Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations. Genet Test Mol Biomarkers, 14(2), 171-174.
40. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Mao R (). SPRED1 mutations in a neurofibromatosis clinic. J Child Neurol, 25(10), 1203-9.
41. Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS (). Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum Mutat, 31(5), 588-593.
42. Margraf RL, Calderon FR, Mao R, Wittwer CT (2009). RET mutation scanning update; Exon 15. Clin Chem, 55, 2059-61.
43. Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV (2009). Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, BRCA2 genetic testing. J Mol Diagn, 11, 553-61.
44. Margraf RL, Crockett DK, Krautscheid P, Seamons R, Calderon F, Wittwer CT, Mao R (2009). Multiple endocrine neoplasia type 2 RET protooncogene database; repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat, 30, 548-56.
45. Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E (2008 Aug). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants; hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol, 85(1), 45-9.
46. Curry CJ, Mao R, Mongia SK, Aston E, Treisman T, Proctor M, Chou B, Whitby H, Brothman AR (2008). Homozygous deletion of copy number variants detected by CGH; microarray as a potential mechanism for mental retardation. Am J Med Genet A, 146A(15), 1903-10.
47. Margraf RL, Mao R, Wittwer CT (2008). Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument. J Mol Diagn, 10, 123-8.
48. Bornhorst JA, Procter M, Meadows C, Ashwood ER, Mao R (2007 Sep). Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency. Am J Clin Pathol, 128(3), 482-90.
49. Bornhorst JA, Calderon FR, Procter M, Tang W, Ashwood ER, Mao R (2007 Oct). Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population. J Clin Pathol, 60(10), 1124-8.
50. Jama M, Nelson L, Mao R, Lyon E (2007). Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene. J Mol Diagn, 9, 618-23.
51. Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I (2007). A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med, 9, 413-26.
52. Calderon FRO, Nelson L, Dobrowolski P, Sinitsyna I, Baker C, Yu P, Longo N, Pasquali P, Mao R (2007). Laboratory diagnosis of galactosemia: combination of enzyme activity, allele-specific PCR and full gene analysis. J Inherit Metab Dis, 30(5), 818.
53. Calderon FR, Phansalkar AR Crockett DK, Miller M, Mao R (2007). Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat, 28, 939-43.
54. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P (2007). Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn, 9, 258-65.
55. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R (2006). A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A, 140, 2155-62.
56. Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT (2006 Jan). Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clin Chem, 52(1), 138-41.
57. Margraf RL, Mao R, Wittwer CT (2006 Mar). Masking selected sequence variation by incorporating mismatches into melting analysis probes. Hum Mutat, 27(3), 269-78.
58. Liew M, Nelson L, Margraf R, Mitchell S, Erali M, Mao R, Lyon E, Wittwer C (2006 Feb). Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes. J Mol Diagn, 8(1), 97-104.
59. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R (2006 Mar 1). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A, 140(5), 463-70.
60. Procter M, Chou LS, Tang W, Jama M, Mao R (2006 Jul). Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem, 52(7), 1276-83.
61. Ahmed SA, Snow-Bailey K, Highsmith WE, Sun W, Fenwick RG, Mao R (2005 May). Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn, 7(2), 283-8.
62. Mao R, McDonald J, Cantwell M, Tang W, Ward K (2005 Summer). The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. Genet Test, 9(2), 121-5.
63. Dent KM, Kenneson A, Palumbos JC, Maxwell S, Eichwald J, White K, Mao R, Bale JF Jr, Carey JC (2004 Feb 15). Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening. Am J Med Genet C Semin Med Genet, 125(1), 28-34.
64. Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR (2004 Dec). 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr, 145(6), 840-2.
65. Mao R, Nelson L, Kates R, Miller C, Donaldson D, Tang W, Ward K (2004). Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Prenat Diagn, 22(13), 1171-6.
66. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M (2002 Jan). Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics, 109(1), E12.
67. Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K (2002 Jul 15). Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet, 110(4), 338-45.
68. Mao R, OBrien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K (2001 Mar). Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Mol Genet Metab, 72(3), 248-53.
69. Mao R, Jalal SM, Snow K, Michels VV, Szabo SM, Babovic-Vuksanovic D (2000 Mar-Apr). Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med, 2(2), 131-5.
70. Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT (1998 Dec 4). Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Med Genet, 80(4), 418-22.
71. Hsu WT, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang JC, Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux CH, Trunca C, Bialer MG, Linn SK, Schreck RR (1998 Dec 28). Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet, 80(5), 473-80.
72. Berry-Kravis E, Mao R, Ciurlionis R, Adams A (1994). New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry. Am J Med Genet, 53(1), 94-6.
73. Mao R (1993). The inhibitory effects of epicatechin complex on diethyinitrosamine induced inhibition of hepatocarcinogenesis in rats. Zhonghua Yu Fang Yi Xue Za Zhi, 27, 201-4.
74. Mao R, Ding L (1990). Expression of N-ras proto-oncogene in isolated r-glutamyl transpeptidase-positive rat hepatocytes. Chin Med J (Engl), 59, 257-9.

Review

1. Carlston CM, ODonnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP, Tvrdik T, MacArthur DG, Mao R (2017 May). Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. [Review]. Hum Mutat, 38(5), 517-523.
2. Stevenson D, Viskochil D, Mao R, Muram-Zborovski T (). Legius syndrome. [Review]. GeneReviews.
3. Mao R, Chou LS (). Methylation analysis by restriction endonuclease digestion and real-time PCR. [Review]. Clin Chem, 56(7), 1050-1052.
4. Chou LZ, Lyon E, Mao R (01/01/2008). Molecular diagnosis utility of multiplex ligation-dependent probe amplification (MLPA) the expert opinion of molecular diagnosis. [Review]. Mol Diagn, 2(4), 373-85.
5. Bayrak-Toydemir P, Mao R, Lewin S, McDonald J (July/August 2005). Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians. [Review]. Genet Med, 6(4).
6. Stevenson D, Viskochil D, Mao R (1993). Legius SyndromeBTI. [Review]. GeneReviews.

Book Chapter

1. Roberts KA, Mao R, OFallon BD, Lyon E (). Reporting of Clinical Genomics Test Results. In Kulkarni S, Pfeifer J (Eds.), Elsevier (1st, 1, pp. 217-29). ResearchGate.
2. Dames S, Eilbeck K, Mao R (2015). A high-throughput next-generation sequencing assay for the mitochondrial genome. In Methods Mol Biol (1264, pp. 77-88). United States.
3. Krock BL, Mao R, Best DH, Lyon E (). Genomic Applications of Inherited Genetic Disorders. In Netto GJ, Schrijver I (Eds.), Genomic Applications in Pathology. New York: Springer.
4. Best DH, Dames S, Wooderchak-Donahue W, Lewis T, Sumner K, Vaughn CP, Mao R (). Chapter 2: Molecular Pathology Methods. In Molecular Pathology in Clinical Practice (2nd Ed).
5. Mao R, Bayrak-Toydemir P, Lyon E (). Capillary electrophoresis for detection of fragile X expanded alleles. In Methods in Molecular Biology (2013, 919, pp. 275-85). Humana Press.
6. Lyon E, Mao R, Swensen J (2008). Mutation Detection by Real-Time PCR. In Horizon Bioscience (Ed.), Real Time PCR: An Essential Guide. Human Press Inc.
7. Snow K, Mao R (2003). Extreme expansion detection in spinocerebellar ataxia type 2 and type 7. In Part II: Trinucleotide repeat detection in "Neurogenetics: Methods and Protocols" (Part II: Trinucleotide repeat detection in "Neurogenetics: methods and protocols). Humana Press Inc.

Case Report

1. Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC (2017 Oct). Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. Am J Med Genet A, 173(10), 2622-2627.

Abstract

1. Procter M, Dames S and Mao R (). Next Generation Sequencing for 23 Genes Cauisng Fatty Acid Oxidation Disorders [Abstract]. American College of Medical Genetics and Genomics (ACMGG)Annual Meeting, Salt Lake City, UT.
2. Hegde M, Mao R, Das S, Tinker S, Garber K, Procter M, Nelakuditi V, Tan C, Lyon E, Bean L, Rehm H and Funke B (). Harmonizing Variant Interpretation Approaches Between Laboratories Through ClinVar [Abstract]. American College of Medical Genetics and Genomics (ACMGG)Annual Meeting, Salt Lake City, UT.
3. Longo N, San Filippo C, Yin X, Frigeni M, Mao R, Pasquali M (). Multiple Mutations in the SLC22A5 Gene in Patients with OCTN2 Carnitine Transporter Deficiency Identified by Newborn Screening [Abstract]. Society for the Study of the Inborn Errors of Metabolism (SSIEM) Annual Symposium, Innebruck, Austria.
4. Dames S, Durtschi J, Mao R, Volkerding K (). Evaluation of the Illumina NextSeq500 for Rapid Whole Genome Sequencing [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA.
5. Liew M, Mao R, Wittwer C, Salama, M (). Detection of Chromosomal Translocations in Formalin-Fixed Parrafin Enbedded (FFPE) Leukemic Specimens by Digital Expression Profiling [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting.
6. Krock B, Dames S, Mao R (). Next Generation Sequencing for Diagnosis and Gene Discovery in the RAS Pathway Disorders [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting.
7. Margraf R, Dames S, Durtschi J, Mao R, Volkerding K (). Whole Genome Sequencing on Illumina NextSeq500 [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting.
8. Mao R, Dames S, Leon E, Dent K, Viskochil D (). NEK1 Mutations in Short-Rib-Facial-Digital Condition [Abstract]. American College of Medical Genetics and Genomics (ACMGG) Annual Meeting.
9. Hegde M, Bale S, Berg J, Bustamante C, Das S, Ferber M, Funke B, Greenblatt M, Kulkarni, Landrum M, Lyon E, Mao R, Plon S, Rehm H, Santani A (). Progress in Developing Curated Sequence Variant Content in NCBI’s ClinVar Database [Abstract]. American College of Medical Genetics and Genomics (ACMGG) Annual Meeting.
10. Procter M, Smith C, Mao R (). Detection of Disease-Causing Mutations in the Ashkenazi Jewish Population Using a BioFilm Microarray [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting.
11. Church D, Funke B, Hegde M, Chao C, Trow J, Slotta D, Halavi M, Meric PA, Ananiev V, Frishberg D, Rubinstein W, de Silva C, Gowrisankar S, Ajay S, Chapman B, Compton J, Dames S, Das S, Feng Y, Hambuch T, Kulkami S, Mao R, OFallon DB, Shrivastava I, Toji L, Zhang V, Zook J, Kalman L (). Development of Consensus Reference Material Tools for Clinical Next Generation Sequencing Tests [Abstract]. Association for Molecular Pathology (AMP).
12. Gagnon R, Sheets K, Procter R, Mao R, McDonlad M, Datto M, Sebastian S (). Mosaic DNA Methylation in Atypical Angelamn Syndrome: A Case Report and the Development of a Molecular Technique to Improve Detection of Mosaic DNA Methylation in Prader-Willi and Angelman Syndromes [Abstract]. Association for Molecular Pathology (AMP).
13. Suh-Lailam B, Runnels S, Mao R, Procter M, Hopf H, Grenache D (). Predicting Succinylcholine Recovery Time: A Study of Butyrylcholinesterase Genotype and Phenotype in Normal Individuals [Abstract]. Academy of Clinical Laboratory Physicians and Scientists.
14. Desai D, Rockwood A, Bach P, Kushnir M, Bennett S, Mao R (). A Severely Decreased HgbA1c Level in a Patient With Suspected Type 2 Diabetes [Abstract]. American Association for Clinical Chemistry.
15. Dames S, Mao R, Duncavage EJ, Shami PJ, Salama M (). Detection of mtDNA Variants Between CD33+ and CD34+ Cell-Sorted Populations in Patients with MDS. Tito Bastianello Awards Recipient [Abstract]. International Symposium on Myelodysplastic Syndromes in Berlin, Germany.
16. Dames S, Wayman, Stocks J, Eilbeck K, Salama, M, Mao R (). Bioinformatics optimization for the detection of low-level heteroplasmy in the mitochondrial genome [Abstract]. American Society of Human Genetics Annual Meeting.
17. Shetty S, Mallempati K, Lewis T, Mao R (). Microarray for Detection of Balanced Reciprocal Translocations in Oncology [Abstract]. Association for Molecular Pathology.
18. Procter M, Ardon O, Carey A, Amiri H, Longo N, Mao R (). Insulin Resistance: Development of a clinical assay for INSR mutation detection [Abstract]. American Society of Human Genetics.
19. Ardon O, Procter M, Mao R, Longo N (). Creatine transporter deficiency: novel mutations and functional studies [Abstract]. American Society of Human Genetics.
20. Ebert B, Runnels S, Schwartz M, Grenache D, Mao R, White J, Shirts B, Procter M, Hopf H (). [Abstract]. American Society of Anesthesiologists.
21. Leon EL, Carey JC, Mao R, Hung I (). Two Girl Siblings with a Novel Recognizable Syndrome [Abstract]. 33rd David Smith Conference Dallas, TX.
22. Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K (). Correlation Assessment Among Clinical Phenotypes, Expression Analysis and Molecular Modeling of 14 Uncharacterized Mutations in the Human Galactose-1 Phosphate Uridyltransferase [Abstract]. American Society of Human Genetics.
23. Singh N, Mao R, Lyon E, Shetty S, Dixon M, Leppert M, Lilloux F (). Refinement the Benign Familial Infantile Seizures Chromosome 16 Epilepsy Locus in a Large Utah Family [Abstract]. American Society of Human Genetics.
24. Dames S, Wayman T, Stocks J, Durtschi JD, Singleton M, Ridge P, Eilbeck K, Mao R (). The Use of Next Generation Sequencing for the Development of Mitochondria Disorder Clinical Assays [Abstract]. American Society of Human Genetics.
25. Procter M, Openshaw A, Crockett D, Wolf B, Mao R (). Biotinidase deficiency genotypeenzyme Correlation and a novel BTD mutation database [Abstract]. American Society of Human Genetics.
26. Greene DN, Procter M, Grenache DG, Lyon E, Bornhorst JA, Mao R (). Misclassification of an Apparent Alpha 1-antitrypsin “Z” Deficiency Variant by LightCycler Melting Analysis [Abstract]. American Association for Clinical Chemistry.
27. Sangle N, Mao R, Dechet C, Agarwal N, Layfield L, Liu T (). Unusual clinical, pathologic and molecular findings in tubulocystic variant of renal cell carcinoma - a recently described novel entity [Abstract]. College of American Pathologists.
28. Openshaw A, Procter M, Longo N, Mao R, Pasquali M (). Correlation between biochemical phenotype and molecular genotype in profound and partial biotinidase deficiency [Abstract]. Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, SIMD 2010.
29. Greene DN, Procter M, Krautscheid P, Mao R, Lyon E, Grenache DG (). Alpha-1-antitrypsin Deficiency in Fraternal Twins Born with Familial Spontaneous Pneumothorax [Abstract]. American Association for Clinical Chemistry.
30. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Carey JC, Mao R, Jackson B (). Financial analysis of genetic testing for Legius syndrome in the neurofibromatosis type 1 populationAmerican Society of Human Genetics ( ASHG) Annual Meeting, Washington, D.C [Abstract]. ASHG 2010 Abstracts.
31. Chou L, Mallempati K, Mao R (). Comparative analysis of mitochondria genome. American Society of Human Genetics ( ASHG) Annual Meeting, Washington, D.C [Abstract]. ASHG 2010 Abstracts.
32. Margraf RI, Durtschi JD, Dames S, Pattison DC, Stephens JE, Mao R, Voelkerding KV (). Multi-sample pooling and Illumina Genome Analyzer sequencing methods to determine gene sequence variation for database development. American Society of Human Genetics ( ASHG) Annual Meeting, Washington, D.C [Abstract]. ASHG 2010 Abstracts.
33. Lewis T, Lyon E, Mao R (). Targeting mitochondrial disorders with custom array CGH. American Society of Human Genetics ( ASHG) Annual Meeting, Washington, D.C [Abstract]. ASHG 2010 Abstracts.
34. Procter M, Tuin K, Mao R (). Detection of ACADVL and SLC22A5 deletions and duplications by MLPA. American Society of Human Genetics ( ASHG) Annual Meeting, Washington, D.C [Abstract]. ASHG 2010 Abstracts.
35. Lewis T, Lyon E, Mao R (). Targeting mitochondrial disorders with custom array CGH [Abstract]. American Journal of Human Genetics, Abstracts of 2010 American Society of Human Genetics Annual Meeting.
36. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Carey JS, Mao R, Jackson B (). Financial analysis of genetic testing for Legius syndrome in the neurofibromatosis type 1 population [Abstract]. American Journal of Human Genetics, Abstracts of 2010 American Society of Human Genetics Annual Meeting.
37. Procter M, Tuin K, Mao R (). Detection of ACADVL and SLC22A5 deletions and duplications by MLPA [Abstract]. American Journal of Human Genetics, Abstracts of 2010 American Society of Human Genetics Annual Meeting.
38. Chou LS, Mallempati L, Mao R (). Comparative analysis of mitochondria genome: Clinical approaches [Abstract]. American Journal of Human Genetics, Abstracts of 2010 American Society of Human Genetics Annual Meeting.
39. Lyon E, Lewis T, Ridge P, Stephensen D, Robles R, Graham V, Bettinson M, Openshaw A, Mao R, Bayrak-Toydemir P, Krautscheid P, Miller C (). Collecting and combining family history, clinical phenotype and analytical results to contribute evidence for variant classification in mutation databases: a systemic laboratory approach [Abstract]. Human Variome Project Meeting, Paris, France.
40. Muram-Zborovski TM, Stevenson DA, Wilson AR, Dries DC, Carey J, Procter M, Shirts BW, Chou LS, Viskochil DH, Mao R (). Legius Syndrome in the University of Utah Neurofibromatosis Clinic [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Honolulu, HI.
41. Crockett DK, Calderon FR, Seamons R, Mitchell JA, Longo N, Mao R (2009 Mar). Carnitine uptake deficiency; an integrated genotype/phenotype database [Abstract]. American Medical Informatics Association (AMIA) Summit on Translationa Bioinformatics, San Francisco, CA.
42. Parnas ML, Procter M, Schwarz MA, Mao R (2009 Jun). Pseudocholinesterase activity; what can genotype tell us? [Abstract]. Academy of Clinical Laboratory Physicians and Scientists (ACLPS) Annual Meeting, Redondo Beach, CA.
43. Parnas ML, Procter M, Schwarz MA, Mao R (2009 Oct). Serum cholinesterase activity; a phenotype-genotype study [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Honolulu, HI.
44. Procter M, Chou LS, Marchese A, Moledina S, Mao R (2009 Oct). Rapid Ashkenazi Jewish carrier screening using the AutoGenomics INFINITI Bio-FilmChip [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Honolulu, HI.
45. Whittington JE, Pham HD, Procter M, Grenache DG, Mao R (2009 Oct). A rare BCHE deficient allele, R386C, confirmed by phenotype-genotype correlation case study [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Honolulu, HI.
46. Muram-Zborovski TM, Stevenson DA, Wilson AR, Dries DC, Carey J, Procter M, Shirts BW, Chou LS, Viskochil DH, Mao R (2009 Oct). SPRED 1 mutations in patients from the Neurofibromatosis Clinic at The University Utah [Abstract]. American Society of Human Genetics (ASHG), Honolulu, HI.
47. Margraf RI, Chou LS, Durtschi JD, Wittwer CT, Mao R (2009 Nov). Temperature calibration improved accuracy and precision for unlabeled probe assays on the LC480 instrument [Abstract]. Association for Molecular Pathology (AMP), Kissimee, FL.
48. Margraf RL, Durtschi J, Dames S, Pattison DC, Stephens J, Mao R, Volkerding K (2009 Oct). Multiple sample pooling and next-generation sequencing to determine RET sequences variation within a population [Abstract]. Human Genome Variation Society (HGVS), Honolulu, HI.
49. Chou LS, Mao R (2008 Nov). Targeted exome sequencing of the NF1 (Neurofibromatosis Type 1) gene; sequence capture and enrichment (SCE) by a high-density oligonucleotide microarry followed by Next Generation Sequencing (NGS) [Abstract]. American Society of Human Genetics Annual Meeting, Philadelphia, PA.
50. Procter M, Glezos C, Schwarz M, Dobrowolski P, Pasquali M, Mao R (2008 Nov). Diagnosis of biotinidase deficiency by sequencing of the BTD gene [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Philadelphia, PA.
51. Margraf RL, Crockett DK, Seamons R, Franckowiak P, Calderon F, Mao R (2008 Sep). Multiple endocrine neoplasia type 2 RET proto-oncogene sequence variation database [Abstract]. 11th International Workshop on Multiple Endocrine Neoplasia - MEN2008 Meeting, Delphi, Greece.
52. Svensson AM, Procter M, Lewis TB, Callas PW, Hopkins C, Lyon E, Mao R, Bovill EG (2008 Oct). Oligonucleotide array-based comparative genomic hybridization analysis of a Protein C-deficient French-Canadian pedigree with highly variable penetrance and severity of thrombophilia [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting, Grapevine, TX.
53. Svensson AM, Reading NS, Miller P, Mao R, Lyon E (2008 Nov). Application of the Westgard Multi-Rules to a quantitative Jak2 assay [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, Philadelphia, PA.
54. Mao R (2008 Oct). Array capture for DNA enrichment prior to next generation sequencing [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting, Grapevine, TX.
55. Margraf RL, Mao R, Wittwer CT (2007 Nov). RET genotyping for MEN2B mutations using an unlabeled probe assay and the LightCycler 480 instrument [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting, Los Angeles, CA.
56. Svensson AM, Chou LS, Miller C, Robles J, Sinitsyna I, Voelkerding KV, Mao R, Lyon E (2007 Oct). Detection of large rearrangements in the CFTR gene by multiplex ligation-dependent probe amplification (MLPA) assay in cases where sequencing fails to detect two disease-causing mutations [Abstract]. American Society of Human Genetics Annual Meeting, San Diego, CA.
57. Dent KM, Palumbos JC, Clifford B, Mao R, Harward RS, Jensen N, Smith RJH, White K, Carey JC (2007 Oct). Multistate study of congenital hearing loss identifies etiology of 50% of Utah cohort [Abstract]. National Society of Genetic Counselor Annual Meeting.
58. Calderon FRO, Schwarz L, San Filippo A, Pasquali M, Longo N, Mao R (2007 Oct). Molecular diagnosis of primary carnitine deficiency [Abstract]. American Society of Human Genetics Annual Meeting, San Diego, CA.
59. Svensson A, Jama M, Procter M, Mao R, Lyon E (2007 Nov). Multiplexed single nucleotide extension assay for mitochondrial point mutations [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
60. Mongia S, Aston E, Chou LS, Procter M, Whitby H Curry CJ, Brothman AR, Mao R (2007 Nov). Homozygous 8q deletion detection by array-CGH in adysmorphic patient with mental retardation [Abstract]. Assoc for Mol Pathol Annual Meeting.
61. Procter M, Jama M, OBrien JF, Pasquali M, Mao R (2007 Nov). Molecular detection of common biotinidase deficiency variants by single nucleotide extension (SNE) [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
62. Margraf RL, Mao R, Highsmith WE, Hotegaard LM, Wittwer CT (2006 Oct). RET proto-oncogene genotyping using unlabeled probes; the masking technique and amplicon high-resolution melting analysis [Abstract]. American Society of Human Genetics (ASHG) Annual Meeting, New Orleans, LA, #1167/B.
63. Chen M, Swensen J, Sinisyna I, Mao R, Bayrak-Toydemir P, Lyon E (2006 Nov). Improved detection of beta globin mutation by DNA sequencing of promoter regions [Abstract]. Assoc for Mol Path Annual Meeting.
64. Procter M, Chou LS, Tang W, Jama M, Mao R (2006 Nov). Molecular diagnosis of Prader-Willi syndrome and Angelman syndrome by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplication [Abstract]. Presented at Association for Molecular Pathology.
65. Calderon FRO, Nelson L, Dobrowolski P, Sinitsyna I, Baker C, Yu P, Longo N, Pasquali M, Mao R (2006 Nov). GALT full gene analysis and mutation database for classical galactosemia [Abstract]. Journal of Molecular Diagnostics (presented at AMP Annual Meeting), 8(5), 630.
66. Svensson AM, Chou LS, Miller C, Robles J, Sinitsyna I, Baker C, Yu P, Longo N, Pasquali M, Mao R (2006). Detection of large rearrangements in the CFTR gene by multiplex ligation dependent probe amplification (MLPA) assay in cases where sequencing fails to detect two disease-causing mutations [Abstract]. American Society of Human Genetics Annual Meeting.
67. Bornhorst JA, Procter M, Meadows C, Ashwood ER, Mao R (2006). A diagnostic algorithm for the identification of individuals at risk for Alpha 1-Antitrypsin deficiency [Abstract]. J Mol Diag - presented at Association for Molecular Pathology, 8(5), 629.
68. Preston M, Gedge F, McDonald, Godfrey R, Sinisyna I, Lyon E, Mao R, Bayrak-toydemir P (2006 Nov). Detection of de novo mutations in hereditary hemorrhagic telangiectasia patients [Abstract]. J Mol Diag - presented at Association for Molecular Pathology Annual Meeting, 8(5), 631.
69. Mitchell S, Mao R (2006 Nov). A Comparison of LightCycler480 system vs. LightCycler: using human platelet antigen genotyping as a model [Abstract]. J of Mol Diag - presented at Association for Molecular Pathology Annual Meeting.
70. Bayrak-Toydemir P, Calderon F, McDonald J, Mao R (2006). Characterizing the effects of splice site mutations in HHT patients [Abstract]. The AbstractBook of American College of Medical Genetics Annual Clinical Genetics Meeting, 280.
71. Bayrak-Toydemir P, Calderon F, McDonald J, Mao R (2005). Characterizing the effects of splice site mutations in HHT patients [Abstract]. Abstract Book of American College of Medical Genetics Annual Clinical Genetics Meeting, 280.
72. Procter M, Bornhorst J, Ashwood E, Mao R (2005). Detection of alpha-1 antirypsin deficiency S and Z alleles using melting curve analysis on the LightCycler [Abstract].
73. Chou LS, Bayrak-Toydemir P, Mao R, Lyon E (2005). Detection of genomic rearrangement using multiplex ligation-dependent probe amplification (MLPA) [Abstract]. Presented at Association for Molecular Pathology Annual Meeting.
74. Mitchell S, Nelson L, Liew M, Margraf R, Wittwer C, Mao R (2005). Human platelet antigen detection using melting curve analysis on the LightCycler [Abstract]. Poster Presentation at AMP, November 2005.
75. Baker C, Nelson L, Sinitsyna I, Miller C, Dobrowolski P, Lyon E, Pasquali M, Mao R (2005). Laboratory diagnosis of galactosemia: galactose-1-phosphate uridyl transferase (GALT) enzyme activity in conjunction with mutation detection [Abstract].
76. Mao R, Clifford B, Palumbos J, Metz J, Carey JC (2005). De novo G59V mutation in the GJB2 (Connexin26) gene: a mutation hotspot for syndromic form of deafness and hyperkeratosis? [Abstract]. Presented at American Society of Human Genetics Annual Meeting.
77. Margraf R, Wittwer C, Mao R (2005 Nov). Masking technique: masking selected sequence variation by incorporating mismatches into melting analysis probes [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting.
78. Calderon F, Gedge F, Godfrey R, Sinitsyna I, Mao R (2005 Nov). Fetal testing for hereditary hemorrhagic telangectasia via molecular sequencing [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting.
79. Bayrak-Toydemir P, McDonald J, Ward K, Mao R (2004). Mutation screening in patients with Hereditary Hemorrhagic Telangiectasia [Abstract]. The Abstract Book of the First Annual Pediatric Research Conference.
80. Yu P, Sinitsyna I, Gedge F, Jama M, Mao R, Lyon E (2004 Nov). An allelic variant in the HD gene that interferes with PCR priming [Abstract]. Association for Molecular Pathology (AMP) Annual Meeting, Los Angeles, CA.
81. Chen M, Sinitsyna I, Miller C, Gedge F, Mao R, Lyon E (2004 Nov). Clinical utility of identifying beta globin mutations by full gene sequencing [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
82. Williams J, Lyon E, Miller C, Mao R (2004 Nov). X chromosome aneuploidy detected by Fragile X southern blot and PCR analysis [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
83. Margraf R, Mao R, Highsmith EW, Holtegarard LM, Wittwer CT (2004 Nov). Mutation scanning of the RET proto-oncogene using unlabeled probes and high-resolution melting analysis [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
84. Procter M, Tang W, Mao R (2004 Nov). Molecular diagnosis of Prader-Willi Syndrome and Angelman Syndrome based on melting curve analysis of methylation-specific PCR [Abstract]. Association for Molecular Pathology Annual Meeting, Los Angeles, CA.
85. Liew M, Nelson L, Johnson M, Graham R, Meadows C, Erali M, Mao R, Lyon E, Wittwer C (2004). Fluroscent SNP genotyping by high-resolution melting analysis without probes [Abstract]. 2004 Cool Tool Conference.
86. Wood JS, Louie Y, Sinitsyna I, Chou LS, Gedge F, Miller C, Mao R, Lyon E (2004). Detecting rare CFTR variants by OLA decreased fluorescent peak intensity [Abstract]. The Journal of Molecular Diagnostics, 6(4), G7.
87. Cowley BC, Stevenson DA, Carey JC, Bayrak-Toydemir P, Mao R, Brothman AR (2004). Genomic microarray facilitated identification of a der(4)t(4;1109p16.3;p15.5) in a patient with a modofied Wolf-Hirschhorn syndrome phenotype [Abstract]. Am J Hum Genet, 76(Suppl), Abstract #874.
88. Bayrek-Toydemir P, Chou LS, Vandersteen JG, Gedge F, Witter CR, Lyon E, Mao R (2004). Efficient mutation detection in Hereditary Hemorrhagic Telangiectasia suing temperature gradient capillary electrophoresis, conformation sensitive gel electrophoresis, and high resolution melting analysis [Abstract]. Am J Hum Genet, 76(Suppl), Abstract #1505.
89. Bayrak-Toydemir P, McDonald J, Ward K, Mao R (2003). Mutation screening in patients with Hereditary Haemorrhagic Telangiectasia [Abstract]. Am J Hum Genet, 73(Suppl), Abstract #2398.
90. Mao R, McDonald J, Cantwell M, Tang W, Ward K (2003). De novo mutation in the 21-hydroxylase gene detected in two patients with congenital adrenal hyperplasia (CAH): implications for complexity in genetics diagnosis of the disease [Abstract]. Am J Hum Genet 73 (Suppl), Abstract #2504.
91. Bayrak-Todemir P, Toydemir R, McDonald J, Ward K, Mao R (2003 Nov). Assessment of conformation sensitive gel electrophoresis in the molecular diagnosis of Noonan syndrome [Abstract]. The Journal of Molecular Diagnostics, 5(4).
92. Mao R, Obrien JF, Rao S, Snow K (1999 Nov). Characterization of a novel deletion in the beta-glucosidase gene in a patient affected with Gaucher disease [Abstract]. The Journal of Molecular Diagnostics, 1, G32.
93. Mao R, Snow K (1999 Nov). Detection of large CAG repeats (>150 repeats) in Spinocerebellar Ataxia type 2 and 7 (SCA2 and SCA7) [Abstract]. The Journal of Molecular Diagnostics, 1, G19.
94. Mao R, Wick M, Snow K (1999). Five novel germline gene variants in RET Proto-oncogene identified in MEN type 2 (MEN2) patients [Abstract]. Am J Hum Genet, 65(Suppl), A491.
95. Mao R, Jalal SM, Snow K, Michels V, Szabo SM, Babovic-Vuksanovic D (1999). Characteristics of two cases of Dup (15) (q11.2-q12) [Abstract]. Am J Hum Genet, 65(Suppl), A350.