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PubPharm (168)
41
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years
enthalten in:
Age
| 2022
von
Del Pozo-Valero, M.
|
Corton, M.
|
López-Rodríguez, R.
| +11
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42
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
enthalten in:
International journal of molecular sciences
| 2022
von
Iancu, I.
|
Perea-Romero, I.
|
Núñez-Moreno, G.
| +12
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43
Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies
enthalten in:
bioRxiv.org
| 2022
von
Iancu, I.
|
Perea-Romero, I.
|
Núñez-Moreno, G.
| +12
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44
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
enthalten in:
NPJ genomic medicine
| 2022
von
Perea-Romero, I.
|
Solarat, C.
|
Blanco-Kelly, F.
| +15
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45
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
enthalten in:
Scientific reports
| 2022
von
López-Rodríguez, R.
|
Del Pozo-Valero, M.
|
Corton, M.
| +71
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46
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations
enthalten in:
Pathogens (Basel, Switzerland)
| 2022
von
Martínez-González, B.
|
Soria, M.
|
Vázquez-Sirvent, L.
| +29
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47
CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative
enthalten in:
Clinical genetics
| 2022
von
Luque, J.
|
Mendes, I.
|
Gómez, B.
| +116
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48
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
enthalten in:
Journal of medical genetics
| 2022
von
Tarilonte, M.
|
Ramos, P.
|
Moya, J.
| +10
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49
SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes
enthalten in:
Microbiology spectrum
| 2022
von
Martínez-González, B.
|
Soria, M.
|
Vázquez-Sirvent, L.
| +23
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50
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
enthalten in:
Investigative ophthalmology & visual science
| 2022
von
Del Pozo-Valero, M.
|
Riveiro-Alvarez, R.
|
Martin-Merida, I.
| +10
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22
Eye Proteins
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ABCA4 protein, human
8
ATP-Binding Cassette Transporters
8
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570
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Adaptor Proteins, Signal Transducing
6
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Extracellular Matrix Proteins
6
Microtubule-Associated Proteins
6
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5
PAX6 Transcription Factor
5
PAX6 protein, human
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Research Support, N.I.H., Extramural
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