Saquib Lakhani

19PUBLICATIONS
50CO-AUTHORS
Anthropological geneticsHaematological tumoursClinical chemistry (incl. diagnostics)Epigenetics (incl. genome methylation and epigenomics)Infant and child health
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (19)

|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

|Sep 27, 2025
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.

Abdullah, Thashi Bharadwaj, Saffia Javed

|May 02, 2025
Combining Mass Spectrometry with Machine Learning to Identify Novel Protein Signatures: The Example of Multisystem Inflammatory Syndrome in Children.

Jeisac Guzmán Rivera, Haiyan Zheng, Benjamin Richlin

|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

|Mar 05, 2025
A single-cell atlas of circulating immune cells over the first 2 months of age in extremely premature infants.

Oluwabunmi Olaloye, Weihong Gu, Arne Gehlhaar

Pageof 4

Frequent Collaborators

7 joint publications

Lauren Jeffries

3 joint publications

Carrie L Lucas

2 joint publications

Weizhen Ji

2 joint publications

Daniel B Horton