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OALib Journal期刊
ISSN: 2333-9721
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ISSN Print: 1476-5438

ISSN Online:

主页: https://www.nature.com/ejhg

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Reviewer recognition

Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively

Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

Haploinsufficiency of ARHGAP42 is associated with hypertension

Precision medicine for a man presented with diabetes at 2-month old

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

Trends in BRCA testing and socioeconomic deprivation

Implementation of public health genomics in Pakistan

The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Variants in DOCK3 cause developmental delay and hypotonia

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Mitochondrial DNA variability of the Polish population

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees

Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

Comparative perspectives: regulating insurer use of genetic information

A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

©2008-2020 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705