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Haploinsufficiency
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Haploinsufficiency
RIS
0.000
(Research Intensity Score)
Papers
62
Top papers
Maya-Vaidya P3: Simulating Dravet Syndrome In Silico — Vairagya-BCM Inhibitory Collapse in a Paediatric SNN with Cross-Patient Seizure Detection
2026 · 76 citations
Enhancing human NK cell antitumor function by knocking out SMAD4 to counteract TGFβ and activin A suppression
2025 · 45 citations
A universal deep-learning model for zinc finger design enables transcription factor reprogramming
2023 · 101 citations
Proximity labeling identifies a repertoire of site-specific R-loop modulators
2022 · 116 citations
Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption
2025 · 15 citations
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
2024 · 12 citations
Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration
2026 · 3 citations
Homologous recombination deficiency signatures in gastrointestinal and thoracic cancers correlate with platinum therapy duration
2023 · 29 citations
Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort
2026
Newest papers
Maya-Vaidya P3: Simulating Dravet Syndrome In Silico — Vairagya-BCM Inhibitory Collapse in a Paediatric SNN with Cross-Patient Seizure Detection
2026 · 76 citations
Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration
2026 · 3 citations
Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort
2026
A Change of Heart for DEPDC5 : Expanding the Neurocardiac Hypothesis of SUDEP
2026
A systematic review of abatacept and belatacept in immune-mediated diseases
2026
Failed metabolic adaptation to stress contributes to epidermal cell adhesion defects in Darier disease
2026
Rescue schizophrenia-related phenotypes caused by Setd1a deficiency by histone demethylase inhibitors
2026
Novel pathogenic CTLA4 missense variant associated with autoimmune enteropathy and systemic immune dysregulation
2026
Developmental mis-specification of cardiac conduction and structure transcriptome in Brugada syndrome
2026
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