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Jacobsen, Julius O. B
248  Ergebnisse:
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1

Learning from conect4children: A Collaborative Approach tow..:

Sen, Anando ; Hedley, Victoria ; Degraeuwe, Eva...
Data.  9 (2024)  4 - p. 55 , 2024
Link: https://doi.org/10.3390/..
 
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2

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Improving prenatal diagnosis through standards and aggregat..:

Duyzend, Michael H. ; Cacheiro, Pilar ; Jacobsen, Julius O. B....
Prenatal Diagnosis.  44 (2024)  4 - p. 454-464 , 2024
Link: https://doi.org/10.1002/..
 
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4

The Monarch Initiative in 2024: an analytic platform integr..:

Putman, Tim E ; Schaper, Kevin ; Matentzoglu, Nicolas...
Nucleic Acids Research.  52 (2023)  D1 - p. D938-D949 , 2023
Link: https://doi.org/10.1093/..
 
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5

Phenopacket-tools: Building and validating GA4GH Phenopacke..:

Danis, Daniel ; Jacobsen, Julius O. B. ; Wagner, Alex H....
PLOS ONE.  18 (2023)  5 - p. e0285433 , 2023
Link: https://doi.org/10.1371/..
 
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6

The Clinical Variant Analysis Tool: Analyzing the evidence ..:

Chin, Hui-Lin ; Gazzaz, Nour ; Huynh, Stephanie...
Genetics in Medicine.  24 (2022)  7 - p. 1512-1522 , 2022
Link: https://doi.org/10.1016/..
 
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7

Phenotype‐driven approaches to enhance variant prioritizati..:

Jacobsen, Julius O. B. ; Kelly, Catherine ; Cipriani, Valentina...
Human Mutation.  43 (2022)  8 - p. 1071-1081 , 2022
Link: https://doi.org/10.1002/..
 
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8

Evaluation of phenotype-driven gene prioritization methods ..:

Jacobsen, Julius O B ; Kelly, Catherine ; Cipriani, Valentina..
Briefings in Bioinformatics.  23 (2022)  5 - p. , 2022
Link: https://doi.org/10.1093/..
 
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9

SvAnna: efficient and accurate pathogenicity prediction of ..:

Danis, Daniel ; Jacobsen, Julius O. B. ; Balachandran, Parithi...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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10

The GA4GH Phenopacket schema defines a computable represent..:

Jacobsen, Julius O. B. ; Baudis, Michael ; Baynam, Gareth S....
Nature Biotechnology.  40 (2022)  6 - p. 817-820 , 2022
Link: https://doi.org/10.1038/..
 
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11

GA4GH Phenopackets: A Practical Introduction:

Ladewig, Markus S. ; Jacobsen, Julius O. B. ; Wagner, Alex H....
Advanced Genetics.  4 (2022)  1 - p. , 2022
Link: https://doi.org/10.1002/..
 
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12

An Improved Phenotype-Driven Tool for Rare Mendelian Varian..:

Cipriani, Valentina ; Pontikos, Nikolas ; Arno, Gavin...
Genes.  11 (2020)  4 - p. 460 , 2020
Link: https://doi.org/10.3390/..
 
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13

The Monarch Initiative in 2019: an integrative data and ana..:

Osumi-Sutherland, David ; Munoz-Torres, Monica C ; Haendel, Melissa A...
Nucleic Acids Research.  48 (2019)  D1 - p. D704-D715 , 2019
Link: https://doi.org/10.1093/..
 
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14

Encoding Clinical Data with the Human Phenotype Ontology fo..:

Köhler, Sebastian ; Øien, N. Christine ; Buske, Orion J....
Current Protocols in Human Genetics.  103 (2019)  1 - p. , 2019
Link: https://doi.org/10.1002/..
 
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15

matchbox: An open-source tool for patient matching via the ..:

Arachchi, Harindra ; Wojcik, Monica H ; Weisburd, Benjamin...
Human Mutation.  39 (2018)  12 - p. 1827-1834 , 2018
Link: https://doi.org/10.1002/..
 
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