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ISSN  :   1018-4813 ( Print )   |   1476-5438 ( Online )   Active

European Journal of Human Genetics (EJHG)

Aim & Scope
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician and bridging the great diversity of facilities, resources and viewpoints in the genetics community in Europe and elsewhere. Key areas include: Monogenic and multifactorial disorders Development and malformation Hereditary cancer Gene mapping and functional studies Genotype-phenotype correlations Genetic variation and genome diversity Advances in diagnostics Therapy and prevention Animal models Genetic services Community genetics. [1]

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2021
90 RESULTS in 10 msec
2021-07-20
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.

P Mur , L Magraner-Pardo , S García-Mulero , ... , L Valle

European Journal of Human Genetics (EJHG) , 2021

 
0 13
2021-07-20
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

E Hay , LC Wilson , B Hoskins , ... , S Rahman

European Journal of Human Genetics (EJHG) , 2021

 
0 28
2021-07-19
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?

L Peck , K Borle , L Folkersen , J Austin

European Journal of Human Genetics (EJHG) , 2021

 
0 23
2021-07-19
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

DL Narayanan , D Udyawar , P Kaur , ... , A Shukla

European Journal of Human Genetics (EJHG) , 2021

 
0 15
2021-07-19
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.

N Kolosov , MJ Daly , M Artomov

European Journal of Human Genetics (EJHG) , 2021

 
0 34
2021-07-19
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases.

N Hurvitz , H Azmanov , A Kesler , Y Ilan

European Journal of Human Genetics (EJHG) , 2021

  Review
0 56
2021-07-19
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

A Pham , ML Sobrier , E Giabicani , ... , I Netchine

European Journal of Human Genetics (EJHG) , 2021

 
0 36
2021-07-15
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

E de Boer , CW Ockeloen , L Matalonga , ... , LELM Vissers

European Journal of Human Genetics (EJHG) , 2021

  Published Erratum
0 0
2021-07-15
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).

M Matic , M Nijenhuis , B Soree , ... , RHN van Schaik

European Journal of Human Genetics (EJHG) , 2021

 
0 44
2021-07-15
Allele frequency differentiation at height-associated SNPs among continental human populations.

M Chen , CWK Chiang

European Journal of Human Genetics (EJHG) , 2021

 
0 35