Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Heidi L. Rehm, Ph.D.

Co-Author

This page shows the publications co-authored by Heidi Rehm and Matthew Lebo.
Connection Strength

3.206
  1. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2021 Dec 19.
    View in: PubMed
    Score: 0.244
  2. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genet Med. 2022 02; 24(2):454-462.
    View in: PubMed
    Score: 0.243
  3. A framework for automated gene selection in genomic applications. Genet Med. 2021 10; 23(10):1993-1997.
    View in: PubMed
    Score: 0.235
  4. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. Am J Hum Genet. 2019 07 03; 105(1):177-188.
    View in: PubMed
    Score: 0.205
  5. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn. 2019 03; 21(2):318-329.
    View in: PubMed
    Score: 0.199
  6. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818.
    View in: PubMed
    Score: 0.173
  7. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 07 07; 99(1):247.
    View in: PubMed
    Score: 0.167
  8. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076.
    View in: PubMed
    Score: 0.165
  9. Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. J Pers Med. 2016 Jan 20; 6(1).
    View in: PubMed
    Score: 0.162
  10. VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet Med. 2016 07; 18(7):712-9.
    View in: PubMed
    Score: 0.161
  11. CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Apr; 17(4):319.
    View in: PubMed
    Score: 0.153
  12. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov; 17(11):880-8.
    View in: PubMed
    Score: 0.151
  13. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov; 84(5):453-63.
    View in: PubMed
    Score: 0.139
  14. Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization. Am J Hum Genet. 2021 12 02; 108(12):2224-2237.
    View in: PubMed
    Score: 0.061
  15. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test. Genet Med. 2021 09; 23(9):1689-1696.
    View in: PubMed
    Score: 0.058
  16. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375.
    View in: PubMed
    Score: 0.058
  17. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol. 2019 11 26; 74(21):2623-2634.
    View in: PubMed
    Score: 0.053
  18. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93.
    View in: PubMed
    Score: 0.050
  19. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4).
    View in: PubMed
    Score: 0.048
  20. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. Lancet Haematol. 2018 Jun; 5(6):e241-e251.
    View in: PubMed
    Score: 0.048
  21. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 08; 20(8):855-866.
    View in: PubMed
    Score: 0.046
  22. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017 Oct; 10(5).
    View in: PubMed
    Score: 0.046
  23. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 08 01; 167(3):159-169.
    View in: PubMed
    Score: 0.045
  24. 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.
    View in: PubMed
    Score: 0.044
  25. Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med. 2017 05; 19(5):496-504.
    View in: PubMed
    Score: 0.042
  26. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep; 3(5):413-23.
    View in: PubMed
    Score: 0.039
  27. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14; 15:134.
    View in: PubMed
    Score: 0.038
  28. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
    View in: PubMed
    Score: 0.036
  29. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug; 16(8):601-8.
    View in: PubMed
    Score: 0.035
  30. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12):4667-72.
    View in: PubMed
    Score: 0.033
  31. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet. 2011 Feb 11; 88(2):183-92.
    View in: PubMed
    Score: 0.029
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.