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DOIs for this ISSN

Showing the top 5 of 526 DOIs, ordered by correction priority.

#	Title	Missing	Priority	Citations
1	The Qatar genome: a population-specific tool for precision m… (10.1038/hgv.2016.16)	Abstract ORCID	102.46	111
2	A deleterious RNF43 germline mutation in a severely affected… (10.1038/hgv.2015.13)	Abstract ORCID	85.38	50
3	Pathway activation strength is a novel independent prognosti… (10.1038/hgv.2015.9)	Abstract ORCID	82.17	43
4	p.G970D is the most frequent CFTR mutation in Chinese patien… (10.1038/hgv.2015.63)	Abstract ORCID	81.16	41
5	A deleterious MYH11 mutation causing familial thoracic aorti… (10.1038/hgv.2015.28)	Abstract ORCID	80.10	39
6	Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patien… (10.1038/hgv.2014.12)	Abstract ORCID	79.55	38
7	Development of a prediction system for anti-tuberculosis dru… (10.1038/hgv.2016.14)	Abstract ORCID	78.99	37
8	Mutation spectrum of Joubert syndrome and related disorders… (10.1038/hgv.2014.20)	Abstract ORCID	76.57	33
9	Two novel mutations in the KHDC3L gene in Asian patients wit… (10.1038/hgv.2016.27)	Abstract ORCID	75.93	32
10	Truncating mutation in NFIA causes brain malformation and ur… (10.1038/hgv.2015.7)	Abstract ORCID	75.26	31
11	A novel PTCH1 mutation in a patient with Gorlin syndrome (10.1038/hgv.2014.22)	Abstract ORCID	73.86	29
12	A novel UBE2A mutation causes X-linked intellectual disabili… (10.1038/hgv.2017.19)	Abstract ORCID	72.36	27
13	Novel and recurrent COL11A1 and COL2A1 mutations in the Mars… (10.1038/hgv.2017.40)	Abstract ORCID	71.57	26
14	DGCR6 at the proximal part of the DiGeorge critical region i… (10.1038/hgv.2015.4)	Abstract ORCID	70.75	25
15	Somatic mosaicism of EPAS1 mutations in the syndrome of para… (10.1038/hgv.2015.53)	Abstract ORCID	70.75	25
16	A novel mutation of NFIX causes Sotos-like syndrome (Malan s… (10.1038/hgv.2017.22)	Abstract ORCID	70.75	25
17	A novel SLC34A2 mutation in a patient with pulmonary alveola… (10.1038/hgv.2016.47)	Abstract ORCID	69.01	23
18	Novel compound heterozygous variants in the LARP7 gene in a… (10.1038/hgv.2018.14)	Abstract ORCID	69.01	23
19	A novel nonsense mutation in the NOG gene causes familial NO… (10.1038/hgv.2016.23)	Abstract ORCID	68.09	22
20	A novel missense mutation of COL5A2 in a patient with Ehlers… (10.1038/hgv.2016.30)	Abstract ORCID	68.09	22
21	WNT10A variants isolated from Japanese patients with congeni… (10.1038/hgv.2017.47)	Abstract ORCID	68.09	22
22	A novel PGAP3 mutation in a Croatian boy with brachytelephal… (10.1038/hgv.2018.5)	Abstract ORCID	67.12	21
23	Detection of 1p36 deletion by clinical exome-first diagnosti… (10.1038/hgv.2016.6)	Abstract ORCID	66.11	20
24	A spectrum of CYP1B1 mutations associated with primary conge… (10.1038/hgv.2016.21)	Abstract ORCID	63.94	18
25	Excess of rare coding variants in PLD3 in late- but not earl… (10.1038/hgv.2014.28)	Abstract ORCID	62.76	17
26	Novel rare variations of the oxytocin receptor (OXTR) gene i… (10.1038/hgv.2015.24)	Abstract ORCID	60.21	15
27	NAT2 genetic variations among South Indian populations (10.1038/hgv.2014.14)	Abstract ORCID	58.80	14
28	Novel WISP3 mutations causing progressive pseudorheumatoid d… (10.1038/hgv.2016.41)	Abstract ORCID	55.70	12
29	PCS/MVA syndrome caused by an Alu insertion in the BUB1B gen… (10.1038/hgv.2017.21)	Abstract ORCID	55.70	12
30	Cold sore susceptibility gene-1 genotypes affect the express… (10.1038/hgv.2014.24)	Abstract ORCID	53.96	11
31	Predominant cerebellar phenotype in spastic paraplegia 7 (SP… (10.1038/hgv.2015.12)	Abstract ORCID	53.96	11
32	A novel FOXC2 mutation in spinal extradural arachnoid cyst (10.1038/hgv.2015.32)	Abstract ORCID	53.96	11
33	A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplicatio… (10.1038/hgv.2015.38)	Abstract ORCID	53.96	11
34	A homozygous deletion of exon 1 in WISP3 causes progressive… (10.1038/hgv.2015.49)	Abstract ORCID	53.96	11
35	Distribution of two OCA2 polymorphisms associated with pigme… (10.1038/hgv.2015.58)	Abstract ORCID	53.96	11
36	A novel homozygous missense mutation in BHLHA9 causes mesoax… (10.1038/hgv.2017.54)	Abstract ORCID	53.96	11
37	Novel and recurrent RNF213 variants in Japanese pediatric pa… (10.1038/hgv.2017.60)	Abstract ORCID	53.96	11
38	Phenotypic differences of patients with fibrodysplasia ossif… (10.1038/hgv.2015.55)	Abstract ORCID	52.07	10
39	Novel heterozygous mutation in the extracellular domain of F… (10.1038/hgv.2016.34)	Abstract ORCID	52.07	10
40	Genome-first approach diagnosed Cabezas syndrome via novel C… (10.1038/hgv.2016.45)	Abstract ORCID	52.07	10
41	Combined approach for finding susceptibility genes in DISH/c… (10.1038/hgv.2017.41)	Abstract ORCID	52.07	10
42	iJGVD: an integrative Japanese genome variation database bas… (10.1038/hgv.2015.50)	ORCID	50.11	100
43	Novel variation at chr11p13 associated with cystic fibrosis… (10.1038/hgv.2016.20)	Abstract ORCID	50.00	9
44	Mutations in phosphodiesterase 6 identified in familial case… (10.1038/hgv.2016.36)	Abstract ORCID	50.00	9
45	Three novel BMPR2 mutations associated with advanced pulmona… (10.1038/hgv.2017.10)	Abstract ORCID	50.00	9
46	A novel PEX1 mutation in a Moroccan family with Zellweger sp… (10.1038/hgv.2017.9)	Abstract ORCID	50.00	9
47	A novel PITX2 mutation causing iris hypoplasia (10.1038/hgv.2014.5)	Abstract ORCID	47.71	8
48	Molecular analysis of the PAX6 gene for aniridia and congeni… (10.1038/hgv.2014.8)	Abstract ORCID	47.71	8
49	A novel frameshift mutation of CHD7 in a Japanese patient wi… (10.1038/hgv.2016.4)	Abstract ORCID	47.71	8
50	Syndromic disorder of sex development due to a novel hemizyg… (10.1038/hgv.2017.12)	Abstract ORCID	47.71	8