Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01970-5
Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02014-8
Missing heritability of complex diseases: case solved?
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02034-4
An update on the genetics of ocular coloboma
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02019-3
The genetic landscape of the human solute carrier (SLC) transporter superfamily
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02081-x
Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01988-9
LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01969-y
Long-read sequencing in deciphering human genetics to a greater depth
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02064-y
DNA damage in aging, the stem cell perspective
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02047-z
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02062-0
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01993-y
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02022-8
OpenMendel: a cooperative programming project for statistical genetics
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02001-z
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02005-9
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02052-2
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01972-3
Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02090-w
Mind the gap: resources required to receive, process and interpret research-returned whole genome data
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02033-5
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02015-7
Correction to: Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02051-3
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02083-9
A powerful fine-mapping method for transcriptome-wide association studies
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02098-2
Personalized medicine: going to the dogs?
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02020-w
Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02009-5
Arteriovenous malformation associated with a HRAS mutation
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02072-y
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02003-x
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02042-4
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01997-8
Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02025-5
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01991-0
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01986-x
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02036-2
Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02041-5
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02077-7
A different view on fine-scale population structure in Western African populations
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02069-7
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02038-0
Expanded carrier screening: counseling and considerations
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02080-y
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02032-6
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02013-9
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02024-6
Exploring the interactions between the human and viral genomes
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02089-3
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02075-9
Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01981-2
The Four Horsemen of the ‘Omicsalypse’: ontology, replicability, probability and epistemology
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02007-7
The rare 13q33–q34 microdeletions: eight new patients and review of the literature
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02048-y
Maternal genetic diseases: potential concerns for mother and baby
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02086-6
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
来源期刊:Human GeneticsDOI:10.1007/s00439-019-01992-z
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02066-w
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02068-8
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
来源期刊:Human GeneticsDOI:10.1007/s00439-019-02076-8