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DOIs for this ISSN

Showing the top 5 of 158 DOIs, ordered by correction priority.

#	Title	Missing	Priority	Citations
1	Genetic advances in skeletal disorders: an overview (10.24911/jbcgenetics/183-1672021989)	References ORCID	34.95	4
2	NTRK2-Related Obesity, Hyperphagia, and Developmental Delay:… (10.24911/jbcgenetics/183-1665949143)	References ORCID	23.86	2
3	Generation of a mouse model of Primary Hyperoxaluria Type 1… (10.24911/jbcgenetics/183-1542047633)	ORCID	17.47	4
4	A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain,… (10.24911/jbcgenetics.183-1734529400)	References ORCID	15.05	1
5	Genomics in Saudi Arabia Call for Data-Sharing Policy (10.24911/jbcgenetics/183-1546945268)	ORCID	15.05	3
6	Prevalence of neurometabolic diseases in Saudi Arabia (10.24911/jbcgenetics/183-1585310179)	ORCID	15.05	3
7	Harel-Yoon syndrome: the first case report from Saudi Arabia (10.24911/jbcgenetics/183-1585816398)	ORCID	15.05	3
8	The landscape of acid sphingomyelinase deficiency in a new t… (10.24911/jbcgenetics/183-1664963756)	References ORCID	15.05	1
9	A novel mutation in TANGO2 gene associated with recurrent mu… (10.24911/jbcgenetics/183-1690703389)	References ORCID	15.05	1
10	Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoe… (10.24911/jbcgenetics/183-1698921213)	References ORCID	15.05	1
11	Molecular genetics of inherited kidney disease in Saudi Arab… (10.24911/jbcgenetics/183-1529935373)	ORCID	11.93	2
12	Recessive ARFGEF2 mutation causes progressive microcephaly,… (10.24911/jbcgenetics/183-1531469195)	ORCID	11.93	2
13	Dilated cardiomyopathy in a child with truncating mutation i… (10.24911/jbcgenetics/183-1542267981)	ORCID	11.93	2
14	Heterozygous mutation in SLC36A2 gene causing hyperglycinuri… (10.24911/jbcgenetics/183-1542540902)	ORCID	11.93	2
15	A call for considering biochemical concepts in clinical gene… (10.24911/jbcgenetics/183-1557963984)	ORCID	11.93	2
16	Variable manifestations in lysinuric protein intolerance: a… (10.24911/jbcgenetics/183-1580808879)	ORCID	11.93	2
17	Infantile systemic hyalinosis: report of a case from Bahrain… (10.24911/jbcgenetics/183-1596702951)	ORCID	11.93	2
18	Dual genetic diagnoses - underappreciated &quot;double t… (10.24911/jbcgenetics/183-1600154983)	ORCID	11.93	2
19	Neurological and extra-neurological clinical spectrum observ… (10.24911/jbcgenetics/183-1603863426)	ORCID	11.93	2
20	Phenotypic expansion of Zimmermann- Laband syndrome associat… (10.24911/jbcgenetics/183-1613027889)	ORCID	11.93	2
21	Bridging metabolomics and genomics: genetic counselling for… (10.24911/jbcgenetics.11-2221)	References	7.53	1
22	Clinical reassessment of post-laboratory variant call format… (10.24911/jbcgenetics/183-1529928114)	ORCID	7.53	1
23	An atypical presentation of severe congenital contractures a… (10.24911/jbcgenetics/183-1531458597)	ORCID	7.53	1
24	A case of Bethlem Myopathy with autosomal recessive inherita… (10.24911/jbcgenetics/183-1541166651)	ORCID	7.53	1
25	Congenital adrenal hyperplasia with maple syrup urine diseas… (10.24911/jbcgenetics/183-1542544695)	ORCID	7.53	1
26	Involvement of mitochondrial dysfunction in pathogenesis of… (10.24911/jbcgenetics/183-1543238438)	ORCID	7.53	1
27	Attitudes of geneticists and patients toward incidental find… (10.24911/jbcgenetics/183-1563863536)	ORCID	7.53	1
28	Attitudes to prenatal diagnosis and termination of pregnancy… (10.24911/jbcgenetics/183-1574152719)	ORCID	7.53	1
29	A Saudi child with Sphingosine Phosphate Lyase insufficiency… (10.24911/jbcgenetics/183-1606918375)	ORCID	7.53	1
30	Case report of a novel homozygous variant in a Saudi patient… (10.24911/jbcgenetics/183-1609604470)	ORCID	7.53	1
31	Phelan-McDermid syndrome: a case report and review of the li… (10.24911/jbcgenetics/183-1646057756)	References	7.53	1
32	Dilated cardiomyopathy associated with NRAP gene: a case ser… (10.24911/jbcgenetics/183-1668575222)	References	7.53	1
33	Erythropoietin resistance in patients with regular hemodialy… (10.24911/jbcgenetics/183-1670609060)	References	7.53	1
34	Novel Heterozygous Sequence Variant in the HOXD13 Gene Under… (10.24911/jbcgenetics/183-1672678766)	References	7.53	1
35	A biallelic variant in IQCE predisposed to cause non-syndrom… (10.24911/jbcgenetics/183-1673499250)	References	7.53	1
36	Nosology of Genetic Skeletal Disorders, Pakistan: An Updated… (10.24911/jbcgenetics/183-1696867179)	References	7.53	1
37	&nbsp;IVF Empowered by NGS: Redefining Reproductive Medi… (10.24911/ejmcr.9-2356)	References ORCID	0.00	0
38	Pan-cancer Analysis of TP53 Expression: Prognostic Significa… (10.24911/jbcgenetics.11-2208)	References	0.00	0
39	CFTR interactome may impact gastric cancer: an in silico sys… (10.24911/jbcgenetics.11-2222)	References	0.00	0
40	Diagnosis of developmental and epileptic encephalopathies in… (10.24911/jbcgenetics.11-2231)	References	0.00	0
41	Impact of genetic counselling on awareness and mental health… (10.24911/jbcgenetics.11-2275)	References	0.00	0
42	Premarital genetic screening for healthy couples: advantages… (10.24911/jbcgenetics.11-2281)	References	0.00	0
43	Noonan syndrome caused by a pathogenic SOS1 variant: expandi… (10.24911/jbcgenetics.11-2290)	References	0.00	0
44	Novel Variant in CBP domain of GLI3 underlying Postaxial Pol… (10.24911/jbcgenetics.11-2336)	References	0.00	0
45	&nbsp;IVF Empowered by NGS: Redefining Reproductive Medi… (10.24911/jbcgenetics.11-2356)	References ORCID	0.00	0
46	A novel five-way complex translocation t(9;10;15;21;22)(q34;… (10.24911/jbcgenetics.11-2362)	References ORCID	0.00	0
47	Rare insights into SPAX5: integrating genetic evidence and w… (10.24911/jbcgenetics.11-2364)	References	0.00	0
48	A Rare Case of a Child with X-linked Opitz G/BBB Syndrome Ca… (10.24911/jbcgenetics.11-2381)	References ORCID	0.00	0
49	Expanding the genetic spectrum of DNASE2 variants in the Mid… (10.24911/jbcgenetics.11-2425)	References ORCID	0.00	0
50	Investigating knowledge, attitude, and practice regarding th… (10.24911/jbcgenetics.11-2429)	References ORCID	0.00	0