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Ordered by how many DOIs each fix touches — start here, not with every error at once.

1

Add abstracts to 3777 articles

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High impact3777 DOIs
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DOIs for this ISSN

Showing the top 5 of 3777 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 P196: GestaltMatcher Database: A FAIR database for medical i… (10.1016/j.gimo.2023.100225)
Abstract References ORCID
67.73 7
2 P029: The effects of the pharmacological chaperone sepiapter… (10.1016/j.gimo.2023.100039)
Abstract References ORCID
58.36 5
3 P194: Persistence of growth promoting effects in children wi… (10.1016/j.gimo.2023.100223)
Abstract References ORCID
58.36 5
4 P307: Atypical presentation of central precocious puberty in… (10.1016/j.gimo.2023.100335)
Abstract References ORCID
52.42 4
5 P687: State of play: The current landscape of newborn screen… (10.1016/j.gimo.2023.100759)
Abstract References ORCID
52.42 4
6 P144: Persistence of growth-promoting effects in children wi… (10.1016/j.gimo.2024.101041)
Abstract References ORCID
52.42 4
7 P641: Application of AlphaMissense prediction to pathogenici… (10.1016/j.gimo.2024.101547)
Abstract References ORCID
52.42 4
8 Genetics Adviser: The development and usability testing of a… (10.1016/j.gimo.2024.101814)
Abstract ORCID
52.07 10
9 Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglo… (10.1016/j.gimo.2024.101875)
Abstract ORCID
47.71 8
10 O31: Risk allele evidence curation, classification, and repo… (10.1016/j.gimo.2023.100457)
Abstract References ORCID
45.15 3
11 P421: AI-assisted karyotyping improves efficiencies at scale… (10.1016/j.gimo.2023.100468)
Abstract References ORCID
45.15 3
12 P138: Evaluating the impact of gnomAD v4 on genetic prevalen… (10.1016/j.gimo.2024.101035)
Abstract References ORCID
45.15 3
13 P146: BeginNGS, an artificial intelligence-enabled genome se… (10.1016/j.gimo.2024.101043)
Abstract References ORCID
45.15 3
14 P258: Diversity of CFTR mutations in a Pakistani population:… (10.1016/j.gimo.2024.101154)
Abstract References ORCID
45.15 3
15 P314: A novel STAG1 variant causing developmental delay, fai… (10.1016/j.gimo.2024.101209)
Abstract References ORCID
45.15 3
16 O28: GREGoR: Accelerating genomics for rare diseases (10.1016/j.gimo.2025.102104)
Abstract References ORCID
45.15 3
17 Elivaldogene autotemcel approved for treatment of cerebral a… (10.1016/j.gimo.2023.100835)
Abstract ORCID
42.25 6
18 The global status of genetic counselors in 2023: What has ch… (10.1016/j.gimo.2024.101887)
Abstract
40.84 42
19 Comorbidity, misdiagnoses, and the diagnostic odyssey in pat… (10.1016/j.gimo.2023.100812)
Abstract
40.05 39
20 The role of the Latin American Professional Society of Genet… (10.1016/j.gimo.2024.101870)
Abstract ORCID
38.91 5
21 P014: First-in-human phase 1/2 trial of intravenous FBX-101… (10.1016/j.gimo.2023.100024)
Abstract References ORCID
35.78 2
22 P145: Microcephaly in atypical Silver-Russell syndrome cause… (10.1016/j.gimo.2023.100174)
Abstract References ORCID
35.78 2
23 P214: Experience in delivering free of cost gene therapy for… (10.1016/j.gimo.2023.100242)
Abstract References ORCID
35.78 2
24 P241: Expanding the phenotype of DREAM-PL: A case report (10.1016/j.gimo.2023.100269)
Abstract References ORCID
35.78 2
25 P248: Is 22q11.2 deletion syndrome truly less common in Blac… (10.1016/j.gimo.2023.100276)
Abstract References ORCID
35.78 2
26 P271: Beyond SMN1: Review of genotype-phenotype correlation… (10.1016/j.gimo.2023.100299)
Abstract References ORCID
35.78 2
27 P368: Disease-causing variants in inherited retinal diseases… (10.1016/j.gimo.2023.100396)
Abstract References ORCID
35.78 2
28 P410: The effect of newborn genomic screening on downstream… (10.1016/j.gimo.2023.100446)
Abstract References ORCID
35.78 2
29 P418: A genome sequencing approach to pharmacogenomic profil… (10.1016/j.gimo.2023.100454)
Abstract References ORCID
35.78 2
30 P556: PGT-M for hereditary cancer conditions: A 12-year test… (10.1016/j.gimo.2023.100603)
Abstract References ORCID
35.78 2
31 P662: Estimating UK Biobank population-specific PGx allele a… (10.1016/j.gimo.2023.100727)
Abstract References ORCID
35.78 2
32 P004: Urine polyols for diagnosis of sorbitol dehydrogenase… (10.1016/j.gimo.2024.100881)
Abstract References ORCID
35.78 2
33 P053: Understanding the measurement of nicotinamide adenine… (10.1016/j.gimo.2024.100930)
Abstract References ORCID
35.78 2
34 O06: Penetrance and prevalence of CDKN2A pathogenic variants… (10.1016/j.gimo.2024.100941)
Abstract References ORCID
35.78 2
35 P099: Rare within the rare: A case of young-onset meningioma… (10.1016/j.gimo.2024.100980)
Abstract References ORCID
35.78 2
36 P125: Detection of pancreatic cancer in liquid biopsies usin… (10.1016/j.gimo.2024.101006)
Abstract References ORCID
35.78 2
37 P132: Expansion of the IRF2BPL-related disorder phenotype: I… (10.1016/j.gimo.2024.101029)
Abstract References ORCID
35.78 2
38 P142: Efficacy, safety and tolerability of chenodeoxycholic… (10.1016/j.gimo.2024.101039)
Abstract References ORCID
35.78 2
39 P158: Generating advancements in longitudinal analysis in X&… (10.1016/j.gimo.2024.101055)
Abstract References ORCID
35.78 2
40 P418: The diagnostic journey of Mexican patients with Verhei… (10.1016/j.gimo.2024.101312)
Abstract References ORCID
35.78 2
41 P439: Yet another neurodevelopmental single gene disorder: G… (10.1016/j.gimo.2024.101333)
Abstract References ORCID
35.78 2
42 P477: Barriers and facilitators to implementing genomic medi… (10.1016/j.gimo.2024.101376)
Abstract References ORCID
35.78 2
43 P531: Developing the patient-reported Genetic testing Utilit… (10.1016/j.gimo.2024.101430)
Abstract References ORCID
35.78 2
44 P547: The clinician-reported Genetic testing Utility InDEX (… (10.1016/j.gimo.2024.101446)
Abstract References ORCID
35.78 2
45 P573: Genome-wide short tandem repeat expansion screening us… (10.1016/j.gimo.2024.101479)
Abstract References ORCID
35.78 2
46 P602: Genetic modifiers as a basis for phenotypic variabilit… (10.1016/j.gimo.2024.101508)
Abstract References ORCID
35.78 2
47 P629: A novel 198 kb partial duplication in KMT2C: Report of… (10.1016/j.gimo.2024.101535)
Abstract References ORCID
35.78 2
48 P671: New artificial intelligence-based computer-aided chrom… (10.1016/j.gimo.2024.101575)
Abstract References ORCID
35.78 2
49 P788: The ADGRA2 gene is associated with multiple fetal brai… (10.1016/j.gimo.2024.101696)
Abstract References ORCID
35.78 2
50 1: Multicenter evaluation of a new AI-based karyotyping soft… (10.1016/j.gimo.2024.101918)
Abstract References ORCID
35.78 2