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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. 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 Nov; 39(11):1485-1493. PMID: 30311384.
    Citations:    Fields:    
  2. 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 Sep 07; 1(5):e182140. PMID: 30646163.
    Citations:    
  3. 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 Sep 06; 103(3):328-337. PMID: 30100086.
    Citations: 1     Fields:    
  4. 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 Jul; 39(7):954-958. PMID: 29696744.
    Citations:    Fields:    
  5. 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
  6. 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:    
  7. 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
  8. 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
  9. 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
  10. 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 Mar 09; 2(5):e91225. PMID: 28289718.
    Citations: 1     Fields:    
  11. 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
  12. 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
  13. 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
  14. Giersch AB, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Dal Cin P. 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
  15. 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
  16. 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.
  17. 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; PMCID: PMC4810380.
    Citations: 3     
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.