Keyword Connections

exome

Journals

4

1 PloS one

2 American journal of human genetics

3 journal of autism and developmental disorders

4 Genetics in medicine : official journal of the American College of Medical Genetics

Research Groups

0

No Research Group Connected

Bibliographies

40

1 additional mechanisms conferring genetic susceptibility to alzheimer's disease

2 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

3 Isotopic reconstruction of the weaning process in the archaeological population of Canímar Abajo, Cuba: A Bayesian probability mixing model approach.

4 EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

5 VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects.

6 Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

7 A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

8 Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.

9 Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

10 Primary care physicians' understanding and utilization of pediatric exome sequencing results.

11 Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns

12 Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

13 Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

14 Criteria for reporting incidental findings in clinical exome sequencing - A focus group study on professional practices and perspectives in Belgian genetic centres

15 A linkage and exome study implicates rare variants of KANK4 and CAP2 in bipolar disorder in a multiplex family.

16 SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

17 Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

18 Whole Exome Sequencing Identifies a Novel Pathogenic Variation [p.(Gly194Valfs*7)] in SLC45A2 in the Homozygous State in Multiple Members of a Family in Southern India Affected with Oculocutaneous Albinism.

19 Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

20 Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.

21 Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.

22 the number of candidate variants in exome sequencing for mendelian disease under no genetic heterogeneity

23 affected kindred analysis of human x chromosome exomes to identify novel x-linked intellectual disability genes.

24 whole exome sequencing reveals severe thrombophilia in acute unprovoked idiopathic fatal pulmonary embolism

25 trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome: first case report in the balkans

26 a survey of computational tools to analyze and interpret whole exome sequencing data

27 identification of a case of srd5a3-congenital disorder of glycosylation (cdg1q) by exome sequencing

28 the exometabolome of two model strains of the roseobacter group: a marketplace of microbial metabolites

29 effect of next-generation exome sequencing depth for discovery of diagnostic variants

30 a combined linkage and exome sequencing analysis for electrocardiogram parameters in the erasmus rucphen family study

31 exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

32 dosage compléxométrique rapide du calcium dans les moûts et les vins

33 identification of a novel collagen type iv alpha-4 (col4a4) mutation in a chinese family with autosomal dominant alport syndrome using exome sequencing

34 balsa: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by gpu

35 thiamine pyrophosphokinase deficiency causes a leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

36 whole exome sequencing reveals compound heterozygosity for ethnically distinct pex7 mutations responsible for rhizomelic chondrodysplasia punctata, type 1

37 meta-analysis of exome array data identifies six novel genetic loci for lung function [version 3; referees: 2 approved]

38 exome sequencing for mucolipidosis iii: detection of a novel gnptab gene mutation in a patient with a very mild phenotype

39 an atypical presentation of acad9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach

40 failure of recommended in vitro tests to detect a leak in flexometallic endotracheal tube cuff system: are we really safe?