John M. Greally

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium

  medRxiv · 2026-04-22

• Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity

  Annual Review of Genomics and Human Genetics · 2026-04-01

• Integrating multi-omic QTLs and predictive models reveals regulatory architectures at immune related GWAS loci in CD4+ T cells

  medRxiv · 2026-01-30

• Egr1 is a sex-dependent regulator of neuronal chromatin, structural plasticity, and behaviour

  Nature Communications · 2025-12-13 · 3 citations

• Individuals with intellectual disability have an increased burden of <i>de novo</i> variants in <i>cis</i> -regulatory elements of glutamatergic neuronsPreprint

  medRxiv · 2025-09-29

• Editorial Expression of Concern: Bcl-6 mediates the germinal center B cell phenotype and lymphomagenesis through transcriptional repression of the DNA-damage sensor ATR

  Nature Immunology · 2025-08-20

• MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload

  PLoS Genetics · 2025-07-14 · 2 citations

• Genetic disease risks of under-represented founder populations in New York City

  PLoS Genetics · 2025-06-24 · 2 citations

• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

  Nature Genetics · 2025-05-16 · 42 citations

• Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study

  Public Health Genomics · 2025-01-17 · 1 citations

• Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure

  Genetics in Medicine Open · 2025-01-01 · 1 citations

• P223: Discovery of rare disease variants specific to populations using genomic data from diverse populations in All of Us

  Genetics in Medicine Open · 2025-01-01

• Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

  The American Journal of Human Genetics · 2024-11-19 · 3 citations

• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionPreprint

  medRxiv · 2024-10-08 · 3 citations

• Clinical Utility of Polygenic Risk Scores for Embryo Selection: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG)

  Obstetrical & Gynecological Survey · 2024-10-01

• Genetic disease risks of under-represented founder populations in New York CityPreprint

  medRxiv · 2024-09-28 · 4 citations

• Identifying the Genetic Ancestry of the Pediatric Obesity-related Asthma Variant (rs6494395) at RPS27L

  Pediatric Pulmonology · 2024-09-17

• Prenatal vitamin D deficiency exposure leads to long-term changes in immune cell proportions

  Scientific Reports · 2024-08-27 · 5 citations

• <i>MYH11</i> rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overloadPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-08-16 · 3 citations

• Single-cell analysis identifies distinct CD4+ T cells associated with the pathobiology of pediatric obesity-related asthmaPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-08-16 · 4 citations