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9 matching publication(s)
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · · 2025
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67/100
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
PMID 40963120 · Genome Medicine · 2025
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88/100
Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · Nat Commun · 2025
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90/100
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
PMID 40555819 · Nature Genetics (Author Correction 2025; orig 2024;56:1644) · 2025
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76/100
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
PMID 39039281 · Nat Genet · 2024
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87/100
Predicting the pathogenicity of missense variants using features derived from AlphaFold2.
PMID 37084271 · Bioinformatics · 2023
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85/100
Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.⚑
PMID 30503143 · Cell Stem Cell · 2018
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30/100
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
PMID 20890276 · · 2010
96/100
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
PMID 23350639 · Clinical genetics · 2013
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