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Clinical Genetics Evidence Update

November 2016
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Latest Journal Table of Contents

The American Journal of Human Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Clinical Dysmorphology
Clinical Genetics
Current Opinion in Genetics & Development
European journal of human genetics : EJHG
European journal of medical genetics
Human Molecular Genetics
Journal of Genetic Counselling
Nature genetics
CDC Public Health Genomics Weekly Update
http://www.cdc.gov/genomics/update/current.htm
Scroll down for the “weekly scan” – are there any areas you would find particularly useful? Please let us know.

GeneReviews – What’s New
http://www.ncbi.nlm.nih.gov/books/NBK132722/
 
Orphanet - New genes
Noonan syndrome-like disorder with loose anagen hair caused by recurrent de novo missense mutations in PPP1CB in four patients
Am J Med Genet A. ; 170(9):2237-47 ; September 2016
 Consult the Pubmed abstract 
To read more about "Noonan syndrome-like disorder with loose anagen hair" in Orphanet
Severe infantile-onset encephalopathy associated with biallelic variants in UBA5
 Am J Hum Genet. ; 99(3):683-94; 695-703 ; September 2016
Consult the Pubmed abstracts 
To read more about "Undetermined early-onset epileptic encephalopathy"
Hypothalamic hamartomas with gelastic seizures due to somatic mutations in PRKACA, GLI3, SHH, IHH, SMO, CREBBP and GLI2
Am J Hum Genet. ; 99(2):423-9 ; August 2016
 Consult the Pubmed abstract 
To read more about "Hypothalamic hamartomas with gelastic seizures"
Craniosynostosis linked to mutations in CDC45
 Am J Hum Genet. ; 99(1):125-38 ; July 2016
 Consult the Pubmed abstract 
To read more about "Craniosynostosis"
Isolated complex I deficiency caused by mutations in TMEM126B
  Am J Hum Genet. ; 99(1):208-16; 217-27 ; July 2016
Consult the Pubmed abstracts 
To read more about "Isolated complex I deficiency"
X-linked osteogenesis imperfecta linked to mutations in MBTPS2  
Nat Commun. ; 7:11920 ; July 2016
 Consult the Pubmed abstract  
Primary intraosseous venous malformation caused by loss-of-function mutations in ELMO2 in five families
 Am J Hum Genet. ; 99(2):299-317 ; August 2016
Consult the Pubmed abstract 
To read more about "Primary intraosseous venous malformation"
Presynaptic congenital myasthenic syndrome with episodic apnea due to compound heterozygous and homozygous mutations in SLC5A7 in six unrelated families. 
Am J Hum Genet. ; 99(3):753-61 ; September 2016
 Consult the Pubmed abstract 
To read more about "Presynaptic congenital myasthenic syndromes"
Familial clubfoot with or without associated lower limb anomalies due to missense mutations in FLNB
Hum Genet. ; 135(10):1181-9 ; October 2016
 Consult the Pubmed abstract 
To read more about "Familial clubfoot with or without associated lower limb anomalies" 
Exfoliative ichthyosis linked to loss-of-function mutations in SERPINB8  Am J Hum Genet. ; 99(2):430-6 ; August 2016  .Consult the Pubmed abstract 
To read more about "Exfoliative ichthyosis"
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1
Am J Hum Genet. ; 99(2):470-80 ; August 2016
 Consult the Pubmed abstract 
To read more about "Retinitis pigmentosa"
Congenital diaphragmatic hernia due to de novo frameshift mutation in NR2F2
Am J Med Genet A. ; 170(9):2457-61 ; September 2016
Consult the Pubmed abstract 
To read more about "Congenital diaphragmatic hernia"
Familial isolated dilated cardiomyopathy linked to de novo RRAGC mutation
Hum Genet. ; 135(8):909-17 ; August 2016
Consult the Pubmed abstract  
To read more about "Familial isolated dilated cardiomyopathy"
Cardiospondylocarpofacial syndrome associated with heterozygous mutations in MAP3K7 in six individuals from four families
Am J Hum Genet. ; 99(2):407-13 ; August 2016
Consult the Pubmed abstract 
To read more about "Cardiospondylocarpofacial syndrome"
Frontometaphyseal dysplasia caused by mutations in MAP3K7
Am J Hum Genet. ; 99(2):392-406 ; August 2016
Consult the Pubmed abstract 
To read more about "Frontometaphyseal dysplasia"
Acinar dysplasia of the lungs due to mutations in TBX4
Am J Med Genet A. ; 170(9):2440-4 ; September 2016
Consult the Pubmed abstract 
Familial adenomatous polyposis linked to compound heterozygous loss-of-function germline mutations in MSH3 in two unrelated individuals
Am J Hum Genet. ; 99(2):337-51 ; August 2016
Consult the Pubmed abstract 
To read more about "Familial adenomatous polyposis"
Tufted angioma and kaposiform haemangioendothelioma caused by GNA14 somatic mutations.
Am J Hum Genet. ; 99(2):443-50 ; August 2016
Consult the Pubmed abstract 
To read more about "Kaposiform hemangioendothelioma"
To read more about "Tufted angioma"
Cystic fibrosis: IL8 gene as a germline modifier
Hum Genet. ; 135(8):881-94 ; August 2016
Consult the Pubmed abstract 
To read more about "Cystic fibrosis"
Chronic intestinal pseudoobstruction: RET as a candidate gene
Am J Med Genet A. ; 170(9):2400-3 ; September 2016
Consult the Pubmed abstract 
To read more about "Chronic intestinal pseudoobstruction"
Hepatocellular carcinoma: EPB41 as a susceptibility gene.
Am J Hum Genet. ; 99(2):275-86 ; August 2016
 Consult the Pubmed abstract 
To read more about "Hepatocellular carcinoma" in Orphanet
Leicester Publications

The clinical utility of genetic testing of tissues from pregnancy losses.

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

52 Genetic Loci Influencing Myocardial Mass.
 
**Links will not open from UHL Trust computers using older versions of Internet Explorer, please use an alternative browser**
Other Papers 

The Role of PIEZO2 in Human Mechanosensation

Phenotype is king, researchers say, after 20 family members have condition misdiagnosed


**Links will not open from UHL Trust computers using older versions of Internet Explorer, please use an alternative browser**
Are there any other sources we should include in this Evidence Update?   Would it be useful if we included new information from any of these, or provided a link to them?
Please let us know what you think.
Our mailing address is: keith.nockels@uhl-tr.nhs.uk
 
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