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OALib Journal期刊
ISSN: 2333-9721
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ISSN Print: 1530-0366

ISSN Online:

主页: https://www.nature.com/gim

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Research participants’ preferences for receiving genetic risk information: a discrete choice experiment

Genomic education for the next generation of health-care providers

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Including the blind community in precision medicine research: findings from a national survey and recommendations

CRISPR in the North American popular press

Variant classification changes over time in BRCA1 and BRCA2

Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party

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

Genotype–phenotype associations among panel-based TP53+ subjects

Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result

Sequencing as a first-line methodology for cystic fibrosis carrier screening

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

Estimating the burden and economic impact of pediatric genetic disease

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review

A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community

Cancer communication research in the era of genomics and precision medicine: a scoping review

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Experiences and perspectives on the return of secondary findings among genetic epidemiologists

Qualitative study of system-level factors related to genomic implementation

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Secondary research uses of residual newborn screening dried bloodspots: a scoping review

Ethnic identity and engagement with genome sequencing research

Atypical cerebral palsy: genomics analysis enables precision medicine

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

©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