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

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

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

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

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

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

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

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

Haploinsufficiency of ARHGAP42 is associated with hypertension

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Variants in DOCK3 cause developmental delay and hypotonia

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

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

Mitochondrial DNA variability of the Polish population

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

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

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

Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey

Reviewer recognition

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

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

A stroke gene panel for whole-exome sequencing

Skewed X-inactivation is common in the general female population

European guidelines for constitutional cytogenomic analysis

Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

The role of matrilineality in shaping patterns of Y chromosome and mtDNA sequence variation in southwestern Angola

Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile

©2008-2017 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705