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Heather Mason-Suares, Ph.D.

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Biography
Eckerd College , St. Petersburg, FLBS05/2002Biology
Case Western Reserve University , Cleveland, OHPhD2010Genetics
Emory University , Atlanta, GA DABMGG2013Fellowship in Cytogenetics and Molecular Genetics
2016 - 2017
Eleanor and Miles Shore 50th Anniversary Fellowship

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Jun 09. PMID: 32516855.
    Citations:    
  2. Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020 Apr 01; 3(4):e203959. PMID: 32347951.
    Citations:    
  3. Witkowski L, Dillon MW, Murphy E, S Lebo M, Mason-Suares H. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. Mol Genet Genomic Med. 2020 Apr; 8(4):e1180. PMID: 32107864.
    Citations:    
  4. Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol. 2019 11 26; 74(21):2623-2634. PMID: 31727422.
    Citations:    
  5. Abou Tayoun A, Mason-Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet. 2019 Nov 07. PMID: 31701237.
    Citations:    
  6. Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS. Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genet Med. 2019 12; 21(12):2765-2773. PMID: 31147632.
    Citations:    
  7. Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S. Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell. 2019 04 18; 177(3):587-596.e9. PMID: 31002795.
    Citations:    
  8. Grant AR, Cushman BJ, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018 11; 39(11):1485-1493. PMID: 30311384.
    Citations:    Fields:    
  9. Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 09 07; 1(5):e182140. PMID: 30646163.
    Citations:    
  10. Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 09 06; 103(3):328-337. PMID: 30100086.
    Citations: 1     Fields:    
  11. Ceyhan-Birsoy O, Miatkowski MM, Hynes E, Funke BH, Mason-Suares H. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. Hum Mutat. 2018 07; 39(7):954-958. PMID: 29696744.
    Citations:    Fields:    
  12. Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS. Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants. Eur J Med Genet. 2018 Oct; 61(10):621-626. PMID: 29655801.
    Citations:    Fields:    Translation:Humans
  13. Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Genet Med. 2018 11; 20(11):1334-1345. PMID: 29493581.
    Citations: 8     Fields:    
  14. Reimers RM, Mason-Suares H, Little SE, Bromley B, Reiff ES, Dobson LJ, Wilkins-Haug L. When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens. Prenat Diagn. 2018 03; 38(4):250-257. PMID: 29436713.
    Citations:    Fields:    Translation:Humans
  15. Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 04; 20(5):554-558. PMID: 29261187.
    Citations: 1     Fields:    Translation:Humans
  16. Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. Genet Med. 2017 11; 19(11):1245-1252. PMID: 28471438.
    Citations: 4     Fields:    Translation:Humans
  17. Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight. 2017 03 09; 2(5):e91225. PMID: 28289718.
    Citations: 1     Fields:    
  18. Hoskinson DC, Dubuc AM, Mason-Suares H. The current state of clinical interpretation of sequence variants. Curr Opin Genet Dev. 2017 Feb; 42:33-39. PMID: 28157586.
    Citations: 4     Fields:    Translation:Humans
  19. Mason-Suares H, Toledo D, Gekas J, Lafferty KA, Meeks N, Pacheco MC, Sharpe D, Mullen TE, Lebo MS. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. Eur J Hum Genet. 2017 04; 25(4):509-511. PMID: 28098151.
    Citations:    Fields:    Translation:Humans
  20. Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016 Dec 23; 354(6319). PMID: 28008009.
    Citations: 34     Fields:    Translation:Humans
  21. Giersch ABS, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Cin PD. Reporting of Diagnostic Cytogenetic Results. Curr Protoc Hum Genet. 2016 Apr 01; 89:A.1D.1-A.1D.23. PMID: 27037490.
    Citations:    Fields:    Translation:Humans
  22. Hakami F, Dillon MW, Lebo M, Mason-Suares H. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 2016 May; 36(5):418-23. PMID: 26918529.
    Citations:    Fields:    Translation:Humans
  23. Mason-Suares H, Landry L, Lebo M. Curr Genet Med Rep. Detecting Copy Number Variants via Next Generation Sequencing Technologies. 2016; 3(4):74-85.
  24. Mason-Suares H, Sweetser DA, Lindeman NI, Morton CC. Training the Future Leaders in Personalized Medicine. J Pers Med. 2016 Jan 07; 6(1). PMID: 26751479.
    Citations: 3     
  25. Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS. Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Hum Mutat. 2016 Jan; 37(1):119-26. PMID: 26444186.
    Citations: 6     Fields:    Translation:Humans
  26. Mason-Suares H, Kim W, Grimmett L, Williams ES, Horner VL, Kunig D, Goldlust IS, Wu BL, Shen Y, Miller DT, Martin CL, Rudd MK. Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. Genet Med. 2013 Sep; 15(9):706-12. PMID: 23558256.
    Citations: 6     Fields:    Translation:Humans
  27. Mason-Suares H, Tie F, Yan CM, Harte PJ. Polycomb silencing of the Drosophila 4E-BP gene regulates imaginal disc cell growth. Dev Biol. 2013 Aug 01; 380(1):111-24. PMID: 23523430.
    Citations: 3     Fields:    Translation:AnimalsCells
  28. Mueller OT, Mason-Suares H, Root A. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2006 Jul; 119(6):681. PMID: 17128487.
    Citations:    Fields:    Translation:Humans
  29. Mueller OT, Mason-Suares H, Root A. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2006 Jul; 119(6):680. PMID: 17128485.
    Citations:    Fields:    Translation:Humans
  30. Mueller OT, Mason-Suares H, Root A. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2006 Jul; 119(6):673. PMID: 17128457.
    Citations:    Fields:    Translation:Humans
  31. Mueller OT, Mason-Suares H, Kousseff B. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2006 Jul; 119(6):673. PMID: 17128456.
    Citations:    Fields:    Translation:Humans
  32. Mueller OT, Mason-Suares H, Root A. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2006 Jul; 119(6):680-1. PMID: 17128486.
    Citations:    Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.