Academic research

Fuel future answers

Research drives our understanding of genetic disorders. Transparent, responsible research collaborations enable the identification of new diseases and the development of novel treatments. Whether you are a researcher looking to identify a clinical cohort, a healthcare provider wanting to speak with others in your field about medical management, or a patient looking to connect with those who have same genetic diagnosis, the GeneDx research group can facilitate these connections. Our dedicated team responds to requests to make connections that may lead to future answers for people impacted by rare genetic disorders.

What we do

  • ALWAYS protect patient privacy
  • ALWAYS ensure that any necessary consents are obtained
  • ALWAYS respect our healthcare providers’ choice to participate
  • Share our knowledge about newly discovered genes and general phenotype information.

How we can helP

  • Identify prospective cases, while maintaining complete patient and client privacy
  • Facilitate connections between healthcare providers and researchers
  • Contact healthcare providers about reanalysis for previous cases
  • Connect patients with support groups or patient registries
Laboratory scientist reaches for a DNA sample tube

Making a difference

Our employees are passionate about advancing the field of genomics both at work and beyond. Several of our experts are part of ClinGen working groups and expert panels.

Read the GeneDx ClinGen profile

A number of GeneDx team members also participate in American College of Medical Genetics and Genomics (ACMG) committees including:

From discovery, sharing, and collaboration to publication, diagnosis, and beyond, the GeneDx Research Team is here to help you reach your goals with the data you need. Explore highlights from our several important publications below or to view all our publications visit our Publications page.

View all Publications

Laboratory scientist reaches for a DNA sample tube

Publication highlights

Clinical Utility
  1. Retterer K et al. Clinical application of whole-exome sequencing across clinical indications. Genet. Med. 2016 Jul 18(7):696-704. (PMID: 26633542)
  2. Moreno de Luca A et al. Molecular diagnostic yield of exome sequencing in patients with cerebral palsy. JAMA 2021 Feb 2;325(5):467-475. (PMID: 33528536)
  3. Lindy AS et al. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia. 2018 May 59(5):1062-1071. (PMID: 29655203)
  4. Susswein LR et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet. Med. 2016 Aug 18(8):823-32. (PMID: 26681312)
  5. Yates CL et al. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. Genet. Med. 2017 10 19(10):1171-1178. (PMID: 28425981)


Bioinformatics Tools
  1. Kaplanis J et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. 2020 Oct 14. (PMID: 33057194)
  2. Scuffins J et al. Uniparental disomy in a population of 32,067 clinical exome trios. Genet Med. 2021 Jan 25. (PMID: 33495530)
  3. Torene RI et al. Mobile element insertion detection in 89,874 clinical exomes. Genet. Med. 2020 Jan 22. (PMID: 31965078)
  4. Stosser MB et al. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. Genet. Med. 2018 Apr 20(4):403-410. (PMID: 28837158)
  5. Arvai KJ et al. Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. Hered Cancer Clin Pract. 2019 17:19. (PMID: 31341520)
Variant Classification Criteria
  1. Richards S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015 May 17(5):405-24. (PMID: 25741868)
  2. Bai R et al. Comment on the criteria for interpretation of mitochondrial tRNA variants. Genet. Med. 2020 May 18. (PMID: 32418987)
Expansion of Phenotype
  1. Bai R et al. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin. Genet. 2020 Mar 05. (PMID: 32133637)
  2. Guillen Sacoto MJ et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am. J. Hum. Genet. 2020 Jul 15. (PMID: 32693025)
  3. Roberts ME et al. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet. Med. 2018 Jan 18. (PMID: 29345684)
New Genes
  1. Kaplanis J et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. 2020 Oct 14. (PMID: 33057194)
  2. Beck DB et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020 Dec 31;383(27):2628-2638 (PMID: 33108101)
  3. Douglas G et al. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Am. J. Med. Genet. A. 2018 Jul 28. (PMID: 30055086)
  4. Snijders Blok L et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am. J. Hum. Genet. 2015 Aug 06 97(2):343-52. (PMID: 26235985)
  5. Torti E et al. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet. Med. 2019 09 21(9):2036-2042. (PMID: 30739909)

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