Lauren Jeffries

9PUBLICATIONS
24CO-AUTHORS
Anthropological geneticsHaematological tumoursEpigenetics (incl. genome methylation and epigenomics)Stylistics and textual analysisNeurogenetics
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Publications (9)

|Jun 26, 2026
Compound Heterozygous ATM Variants Cause Adolescent-Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.

|Jan 29, 2026
Immune dysregulation from a novel CTLA-4 haploinsufficiency variant.

Nina N Brodsky, Alan Kennedy, Daniel Glaser

|Apr 10, 2025
Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

Anne-Marie Landry-Voyer, Tess Holling, Emily K Mis

|Feb 14, 2024
When lungs and weights tell different stories.

Sanjiv Godse, Eliaz Brumer, Tuba Kockar Kizilirmak

|Jul 28, 2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino

|Jan 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Emily K Mis, Annalisa G Sega, Rebecca H Signer

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Frequent Collaborators

7 joint publications

Saquib A Lakhani

2 joint publications

Weizhen Ji

1 joint publications

Julian A Martinez-Agosto

1 joint publications

Samir Al-Ali