Featured
-
-
Article |
Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy
- Volker Ruppert
- , Thomas Meyer
- & Sabine Pankuweit
-
Article |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population
- Elena Aller
- , Lise Larrieu
- & José M Millán
-
Clinical Utility Gene Card |
Clinical utility gene card for: Haemochromatosis [HFE]
- Manfred Stuhrmann
- , Heinz Gabriel
- & Stephen Keeney
-
Clinical Utility Gene Card |
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
- Eberhard Schwinger
- , Koen Devriendt
- & Nicole Philip
-
Article |
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
- Cristina Gervasini
- , Federica Mottadelli
- & Lidia Larizza
-
Article |
Common genetic variation and performance on standardized cognitive tests
- Elizabeth T Cirulli
- , Dalia Kasperavičiūtė
- & David B Goldstein
-
Article |
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
- Claire Louise Susan Turner
- , Deborah M Mackay
- & I Karen Temple
-
Letter |
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration
- Naoshi Kondo
- , Hiroaki Bessho
- & Akira Negi
-
Article |
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
- Duncan B Sparrow
- , David Sillence
- & Sally L Dunwoodie
-
Article |
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
- Roxann G Ingersoll
- , Jacqueline Hetmanski
- & Terri H Beaty
-
Article |
Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis
- Antonio Alcina
- , Óscar Fernández
- & Fuencisla Matesanz
-
Article |
Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
- Frank Rauch
- , Liljana Lalic
- & Francis H Glorieux
-
Article |
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
- Amla Kuechler
- , Berthold P Hauffa
- & Jörg Gromoll
-
Article |
Genetic variants in the BDNF gene and therapeutic response to risperidone in schizophrenia patients: a pharmacogenetic study
- Mingqing Xu
- , Sheng Li
- & Lin He
-
Article |
Polymorphisms in the sialic acid-binding immunoglobulin-like lectin-8 (Siglec-8) gene are associated with susceptibility to asthma
- Pei-Song Gao
- , Kenichi Shimizu
- & Bruce S Bochner
-
Article |
An omnibus test for family-based association studies with multiple SNPs and multiple phenotypes
- Jessica Lasky-Su
- , Amy Murphy
- & Christoph Lange
-
Short Report |
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
- Muhammad Farooq
- , Jesper T Troelsen
- & Klaus W Kjaer
-
Article |
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
- Kathryn E McDougal
- , Deanna M Green
- & Garry R Cutting
-
Article |
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
- Luigi Bisceglia
- , Stefano Zoccolella
- & Vittoria Petruzzella
-
Article |
Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy
- Emmanuelle Bouzigon
- , Paola Forabosco
- & Cathryn M Lewis
-
Article |
A genome-wide association study for age-related hearing impairment in the Saami
- Lut Van Laer
- , Jeroen R Huyghe
- & Guy Van Camp
-
Article |
Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample
- Penelope A Lind
- , Michelle Luciano
- & Timothy C Bates
-
Article |
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression
- Andrzej B Popławski
- , Michał Jankowski
- & Jan P Dumanski
-
Article |
Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34
- Frauke Stanke
- , Colin Davenport
- & Burkhard Tümmler
-
Article |
Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages
- Fulvio Cruciani
- , Beniamino Trombetta
- & Rosaria Scozzari
Browse broader subjects
Browse narrower subjects
- Agricultural genetics
- Animal breeding
- Behavioural genetics
- Cancer genetics
- Cancer genomics
- Clinical genetics
- Consanguinity
- CRISPR-Cas systems
- Cytogenetics
- Development
- Epigenetics
- Epigenomics
- Eukaryote
- Evolutionary biology
- Functional genomics
- Gene expression
- Gene regulation
- Genetic association study
- Genetic hybridization
- Genetic interaction
- Genetic linkage study
- Genetic markers
- Genome
- Genomic instability
- Genomics
- Genotype
- Haplotypes
- Heritable quantitative trait
- Immunogenetics
- Inbreeding
- Medical genetics
- Microbial genetics
- Mutation
- Neurodevelopmental disorders
- Plant breeding
- Plant genetics
- Polyploidy
- Population genetics
- Prokaryote
- Quantitative trait
- RNA splicing
- RNAi
- Sequencing