Bernice Lo

11PUBLICATIONS
115CO-AUTHORS
Medical devicesCellular immunologyEpigenetics (incl. genome methylation and epigenomics)NeonatologyNeurology and neuromuscular diseases
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Publications (11)

|Jul 10, 2026
Inherited human TFIIIA deficiency disrupts T cell development.

|Jun 11, 2026
A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation.

|Jun 26, 2025
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Abeer Fadda, Mohamed Alsabbagh, Dhanya Vasudeva

|Jun 13, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Aljazi Al-Maraghi, Rulan Shaath, Katherine Ford

|Apr 17, 2025
Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature.

Khaled Zamel, Abdulrahman Ahmed Al-Subaiey, Mohamed Alsabbagh

|Oct 03, 2023
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.

Holm H Uhlig, Claire Booth, Judy Cho

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Frequent Collaborators

3 joint publications

Ruba Benini

3 joint publications

Ahmet Ozen

3 joint publications

Safa Baris

2 joint publications

Feyza Bayram Catak