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Bernice Lo · SciRah

Researcher profile · Semantic Scholar

Bernice Lo

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Bernice Lo — researcher profile on SciRah

h-index: 2
Works: 10
Citations: 17

Most-cited papers

Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration.
F. Yu, Satanay Z Hubrack, C. Raynaud, Asha Elmi +14 more
2024Journal of Allergy and Clinical Immunology12 citations Open access
Semantic Scholar
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +123 more
2024medRxiv5 citations Open access
Semantic Scholar
The MENAT Region Inborn Errors of Immunity Research Consortium Registry (MENAT-IEI-RCR): Establishing a regional framework for collaborative research.
M. Barbouche, W. Al-Herz, M. Y. Karim, Bernice Lo +3 more
2026Clinical Immunology2 citations
Semantic Scholar
Unraveling Immune Dysregulation in ZNFX1 Deficiency: From Interferonopathies to Macrophage Activation Syndrome
Sara G. Hamad, Melanie Makhlouf, N. Agrebi, A. Kaddourah +11 more
2026Journal of Clinical Immunology0 citations Open access
Semantic Scholar
Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease
M. Alsabbagh, Satanay Z Hubrack, Lara Gamgoum, M. Osman +8 more
2026Inflammation Research0 citations Open access
Semantic Scholar
Inherited human TFIIIA deficiency disrupts T cell development
E. Duthoo, Sueun Park, T. Jarayseh, M. Bosticardo +42 more
2026medRxiv0 citations Open access
Semantic Scholar
Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management
N. Agrebi, R. Mackeh, M. Alsabbagh, Asha Elmi +6 more
2025Frontiers in Immunology0 citations Open access
Semantic Scholar
A novel homozygous mutation in A20 is linked to Systemic Lupus Erythematosus onset at early childhood 4177
M. Alsabbagh, Satanay Z Hubrack, M. Osman, Katherine Whitmore +2 more
2025Journal of Immunology0 citations
Semantic Scholar
Immunologists’ Perspectives on Monogenic Inflammatory Bowel Diseases
M. Osman, Emine Selva Aydoğdu, R. Mackeh, Ahmet Özen +1 more
2024Turkish Journal of Immunology0 citations Open access
Semantic Scholar
STK4 de�ciency underlies impaired interferon signaling and T cell immunity
AndreaGuennoun, SalimBougarn, Taushif Khan, R. Mackeh +24 more
0 citations
Semantic Scholar

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