2090-6544

Case Reports in Genetics

Hindawi Limited

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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 93 articles

ORCID iDs strengthen author disambiguation and institutional reporting.

Medium impact93 DOIs
2

Add abstracts to 10 articles

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Low impact10 DOIs
3

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Low impact10 DOIs

DOIs for this ISSN

Showing the top 5 of 338 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brai… (10.1155/2011/421582)
ORCID
31.38 17
2 A Novel Microduplication in the Neurodevelopmental Gene<i>SR… (10.1155/2011/585893)
ORCID
30.10 15
3 Monosomy 21 Seen in Live Born Is Unlikely to Represent True… (10.1155/2014/965401)
ORCID
27.85 12
4 Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene (10.1155/2015/937201)
ORCID
27.85 12
5 3p14 De Novo Interstitial Microdeletion in a Patient with In… (10.1155/2015/876348)
ORCID
26.98 11
6 Prenatal Diagnosis of Cystic Hygroma related to a Deletion o… (10.1155/2012/490408)
ORCID
25.00 9
7 Clinical Report of a 17q12 Microdeletion with Additionally U… (10.1155/2014/264947)
ORCID
25.00 9
8 Microduplication of 3p26.3 Implicated in Cognitive Developme… (10.1155/2014/295359)
ORCID
25.00 9
9 Rare Manifestation of a c.290 C&gt;T, p.Gly97Glu<i>VCP</i>Mu… (10.1155/2015/239167)
ORCID
25.00 9
10 Case of 7p22.1 Microduplication Detected by Whole Genome Mic… (10.1155/2015/212436)
ORCID
23.86 8
11 Identification of<i>SLC22A5</i>Gene Mutation in a Family wit… (10.1155/2015/259627)
ORCID
23.86 8
12 Chromosome Deletion of 14q32.33 Detected by Array Comparativ… (10.1155/2011/306072)
ORCID
22.58 7
13 An Interstitial Deletion at 10q26.2q26.3 (10.1155/2014/505832)
ORCID
22.58 7
14 Absence of Substantial Copy Number Differences in a Pair of… (10.1155/2014/516529)
ORCID
22.58 7
15 The Use of High-Density SNP Array to Map Homozygosity in Con… (10.1155/2015/169482)
ORCID
22.58 7
16 Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case… (10.1155/2012/153405)
ORCID
21.13 6
17 Deletion of 7q33-q35 in a Patient with Intellectual Disabili… (10.1155/2015/131852)
ORCID
21.13 6
18 Unexplained False Negative Results in Noninvasive Prenatal T… (10.1155/2015/926545)
ORCID
21.13 6
19 Clinical Expression of an Inherited Unbalanced Translocation… (10.1155/2011/396450)
ORCID
19.45 5
20 Prenatal Diagnosis and Postnatal Followup of Partial Trisomy… (10.1155/2012/821347)
ORCID
19.45 5
21 Child with Deletion 9p Syndrome Presenting with Craniofacial… (10.1155/2013/785830)
ORCID
19.45 5
22 Clinical, Cytogenetic, and Biochemical Analyses of a Family… (10.1155/2013/895259)
ORCID
19.45 5
23 Mandibuloacral Dysplasia Caused by<i>LMNA</i>Mutations and U… (10.1155/2014/508231)
ORCID
19.45 5
24 Alsin Related Disorders: Literature Review and Case Study wi… (10.1155/2014/691515)
ORCID
19.45 5
25 Unusual Presentation of Pelizaeus-Merzbacher Disease: Female… (10.1155/2015/453105)
ORCID
19.45 5
26 Osteoporosis-Pseudoglioma in a Mauritanian Child due to a No… (10.1155/2016/9814928)
ORCID
19.45 5
27 Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndr… (10.1155/2012/878796)
ORCID
17.47 4
28 An Interstitial 20q11.21 Microdeletion Causing Mild Intellec… (10.1155/2013/353028)
ORCID
17.47 4
29 Duplication of 17q11.2 and Features of Albright Hereditary O… (10.1155/2013/764152)
ORCID
17.47 4
30 A Turner Syndrome Patient Carrying a Mosaic Distal X Chromos… (10.1155/2014/597314)
ORCID
17.47 4
31 Different Cardiac Anomalies in Mother and Son with 4q-Syndro… (10.1155/2015/932651)
ORCID
17.47 4
32 Adult Prader-Willi Syndrome: An Update on Management (10.1155/2016/5251912)
ORCID
17.47 4
33 Angelman-Like Syndrome: A Genetic Approach to Diagnosis with… (10.1155/2016/9790169)
ORCID
17.47 4
34 MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Exp… (10.1155/2011/839650)
ORCID
15.05 3
35 Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cel… (10.1155/2011/945181)
ORCID
15.05 3
36 Unique Case Reports Associated with Ovarian Failure: Necessi… (10.1155/2012/640563)
ORCID
15.05 3
37 Idiopathic Central Precocious Puberty Associated with 11 Mb<… (10.1155/2013/978087)
ORCID
15.05 3
38 Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-B… (10.1155/2014/127258)
ORCID
15.05 3
39 Previously Unreported Chromosomal Aberrations of t(3;3)(q29;… (10.1155/2014/582016)
ORCID
15.05 3
40 Early Morphokinetic Monitoring of Embryos after Intracytopla… (10.1155/2015/827656)
ORCID
15.05 3
41 Cognitive, Affective Problems and Renal Cross Ectopy in a Pa… (10.1155/2015/950574)
ORCID
15.05 3
42 Early Infantile Epileptic Encephalopathy in an<i>STXBP1</i>P… (10.1155/2016/4140780)
ORCID
15.05 3
43 A Novel Nonsense Mutation of the AGL Gene in a Romanian Pati… (10.1155/2016/8154910)
ORCID
15.05 3
44 Clinical Findings Associated with a De Novo Partial Trisomy… (10.1155/2011/131768)
ORCID
11.93 2
45 A<i>De Novo</i>Whole GCK Gene Deletion Not Detected by Gene… (10.1155/2011/768610)
ORCID
11.93 2
46 Detection of Chromosome X;18 Breakpoints and Translocation o… (10.1155/2012/681747)
ORCID
11.93 2
47 Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agen… (10.1155/2013/592702)
ORCID
11.93 2
48 Trichorhinophalangeal Syndrome Type I: A Patient with Two No… (10.1155/2013/748057)
ORCID
11.93 2
49 Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient w… (10.1155/2014/496410)
ORCID
11.93 2
50 Complex Variant of Philadelphia Translocation Involving Chro… (10.1155/2014/691630)
ORCID
11.93 2