1471-2350

BMC Medical Genetics

Springer (Biomed Central Ltd.)

Health Score

0 Good

Metadata coverage

Abstract
ORCID
References
License

Extended metadata coverage

Informational — signals of interoperability and funding across the corpus. Not part of the health score.

Funding

Funder
Award / grant

Affiliation & institutional identifiers

Affiliation
ROR ID

Update policy

Update policy

Your prioritized action plan

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

1

Attach ORCID iDs across 1636 articles

ORCID iDs strengthen author disambiguation and institutional reporting.

High impact1636 DOIs
2

Add abstracts to 1332 articles

Abstracts are what surface your work in Google Scholar, Dimensions, and OpenAlex.

High impact1332 DOIs
3

Add license metadata to 257 records

License metadata tells indexers and readers how each article may be reused.

Low impact257 DOIs

DOIs for this ISSN

Showing the top 5 of 2337 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 Framingham Heart Study 100K Project: genome-wide association… (10.1186/1471-2350-8-s1-s3)
Abstract References ORCID License
237.66 237
2 Genome-wide association with bone mass and geometry in the F… (10.1186/1471-2350-8-s1-s14)
Abstract References ORCID License
235.60 226
3 Genome-wide association of sleep and circadian phenotypes (10.1186/1471-2350-8-s1-s9)
Abstract References ORCID License
230.10 199
4 Genome-wide association to body mass index and waist circumf… (10.1186/1471-2350-8-s1-s18)
Abstract References ORCID License
214.30 138
5 Genome-wide association study for subclinical atherosclerosi… (10.1186/1471-2350-8-s1-s4)
Abstract References ORCID License
207.92 119
6 Framingham Heart Study genome-wide association: results for… (10.1186/1471-2350-8-s1-s8)
Abstract References ORCID License
200.43 100
7 A genome-wide association study of breast and prostate cance… (10.1186/1471-2350-8-s1-s6)
Abstract References ORCID License
200.00 99
8 Genome-wide association of echocardiographic dimensions, bra… (10.1186/1471-2350-8-s1-s2)
Abstract References ORCID License
190.31 79
9 Genome-wide association study of electrocardiographic and he… (10.1186/1471-2350-8-s1-s7)
Abstract References ORCID License
189.76 78
10 Genome-wide association with diabetes-related traits in the… (10.1186/1471-2350-8-s1-s16)
Abstract References ORCID License
186.92 73
11 Targeted next-generation sequencing identification of mutati… (10.1186/s12881-016-0286-2)
Abstract ORCID License
136.96 66
12 Meta-analysis of association between TCF7L2 polymorphism rs7… (10.1186/s12881-018-0553-5)
Abstract ORCID License
136.96 66
13 12 year follow up of enzyme-replacement therapy in two sibli… (10.1186/s12881-016-0284-4)
Abstract ORCID License
129.32 52
14 The (FTO) gene polymorphism is associated with metabolic syn… (10.1186/s12881-017-0461-0)
Abstract ORCID License
128.07 50
15 Case report of novel DYRK1A mutations in 2 individuals with… (10.1186/s12881-016-0276-4)
Abstract ORCID License
126.09 47
16 A genome-wide association study for blood lipid phenotypes i… (10.1186/1471-2350-8-s1-s17)
ORCID License
121.41 267
17 Association of HLA class I with severe acute respiratory syn… (10.1186/1471-2350-4-9)
Abstract ORCID
120.58 257
18 TRPM4 non-selective cation channel variants in long QT syndr… (10.1186/s12881-017-0397-4)
Abstract ORCID License
120.15 39
19 Association of NOS3 gene polymorphisms with essential hypert… (10.1186/s12881-017-0491-7)
Abstract ORCID License
120.15 39
20 Generation Scotland: the Scottish Family Health Study; a new… (10.1186/1471-2350-7-74)
Abstract ORCID
119.37 243
21 An Open Access Database of Genome-wide Association Results (10.1186/1471-2350-10-6)
Abstract ORCID
118.74 236
22 Theories of schizophrenia: a genetic-inflammatory-vascular s… (10.1186/1471-2350-6-7)
Abstract ORCID
117.02 218
23 Impact of nine common type 2 diabetes risk polymorphisms in… (10.1186/1471-2350-9-59)
Abstract ORCID
116.42 212
24 HABP2 germline variants are uncommon in familial nonmedullar… (10.1186/s12881-016-0323-1)
Abstract ORCID License
114.86 33
25 A novel variant in MYLK causes thoracic aortic dissections:… (10.1186/s12881-016-0326-y)
Abstract ORCID License
112.89 31
26 Novel missense mutation in the bZIP transcription factor, MA… (10.1186/s12881-017-0414-7)
Abstract ORCID License
112.89 31
27 Genome-wide DNA methylation analysis of transient neonatal d… (10.1186/s12881-016-0292-4)
Abstract ORCID License
111.85 30
28 Genetic correlates of brain aging on MRI and cognitive test… (10.1186/1471-2350-8-s1-s15)
Abstract ORCID
111.01 165
29 CCM3/SERPINI1 bidirectional promoter variants in patients wi… (10.1186/s12881-016-0332-0)
Abstract ORCID License
110.78 29
30 Association between global leukocyte DNA methylation and car… (10.1186/s12881-016-0335-x)
Abstract ORCID License
110.78 29
31 DNA methylation profiles of elderly individuals subjected to… (10.1186/s12881-017-0370-2)
Abstract ORCID License
110.78 29
32 Cytogenetic abnormalities and fragile-x syndrome in Autism S… (10.1186/1471-2350-6-3)
Abstract ORCID
109.09 151
33 Germline activating MTOR mutation arising through gonadal mo… (10.1186/s12881-015-0240-8)
Abstract ORCID License
108.54 27
34 First mutation in the FSHR cytoplasmic tail identified in a… (10.1186/s12881-017-0407-6)
Abstract ORCID License
108.54 27
35 Antagonistic pleiotropy as a widespread mechanism for the ma… (10.1186/1471-2350-12-160)
Abstract ORCID
108.51 147
36 Framingham Heart Study 100K project: genome-wide association… (10.1186/1471-2350-8-s1-s5)
Abstract ORCID
108.22 145
37 Phenotype and genotype in patients with Larsen syndrome: cli… (10.1186/s12881-016-0290-6)
Abstract ORCID License
107.35 26
38 W44X mutation in the WWOX gene causes intractable seizures a… (10.1186/s12881-016-0317-z)
Abstract ORCID License
107.35 26
39 Mutation affecting the proximal promoter of Endoglin as the… (10.1186/s12881-017-0380-0)
Abstract ORCID License
107.35 26
40 Association of the rs738409 polymorphism in PNPLA3 with live… (10.1186/1471-2350-11-172)
Abstract ORCID
107.15 138
41 The Framingham Heart Study 100K SNP genome-wide association… (10.1186/1471-2350-8-s1-s1)
Abstract ORCID
107.15 138
42 118 SNPs of folate-related genes and risks of spina bifida a… (10.1186/1471-2350-10-49)
Abstract ORCID
106.84 136
43 The FH mutation database: an online database of fumarate hyd… (10.1186/1471-2350-9-20)
Abstract ORCID
106.52 134
44 The role of the fat mass and obesity associated gene (FTO) i… (10.1186/1471-2350-12-52)
Abstract ORCID
106.36 133
45 Associations of recurrent miscarriages with chromosomal abno… (10.1186/s12881-016-0331-1)
Abstract ORCID License
106.12 25
46 African ancestry is associated with facial melasma in women:… (10.1186/s12881-017-0378-7)
Abstract ORCID License
106.12 25
47 Mitochondrial mutations in maternally inherited hearing loss (10.1186/s12881-017-0389-4)
Abstract ORCID License
106.12 25
48 Association of ADIPOQ gene variants with body weight, type 2… (10.1186/1471-2350-12-5)
Abstract ORCID
105.70 129
49 Genetic studies of the Roma (Gypsies): a review (10.1186/1471-2350-2-5)
Abstract ORCID
105.19 126
50 Screening of the SLC17A8 gene as a causative factor for auto… (10.1186/s12881-016-0269-3)
Abstract ORCID License
104.85 24