Keyword Connections

exome sequencing

Journals

9

1 kennedy institute of ethics journal

2 Cells

3 Journal of genetic counseling

4 the journal of pathology

5 bipolar disorders

6 american journal of medical genetics part a

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

8 the journal of allergy and clinical immunology

9 families, systems & health : the journal of collaborative family healthcare

Research Groups

0

No Research Group Connected

Bibliographies

38

1 Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.

2 Direct primary care-Where does integrated behavioral health fit?

3 Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

4 Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance.

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

6 When is the Promotion of Prenatal Testing for Selective Abortion Wrong?

7 Ethical Concerns with Applied Behavior Analysis for Autism Spectrum "Disorder".

8 Contextual Injustice.

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

10 a chinese family with axenfeld-rieger syndrome: report of the clinical and genetic findings

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

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

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

14 fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate

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

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

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

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

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

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

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

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

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

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

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

26 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.

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

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

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

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

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

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

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

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