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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
82 RESULTS in 7765 msec
2021-04-13
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection.

B Ashraf , DJ Lawson

European Journal of Human Genetics (EJHG) , 2021

 
0 23
2021-04-12
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

BD Webb , H Hotchkiss , P Prasun , ... , L Satlin

European Journal of Human Genetics (EJHG) , 2021

 
0 8
2021-04-12
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

R Wagener , J Taeubner , C Walter , ... , T Brozou

European Journal of Human Genetics (EJHG) , 2021

 
0 32
2021-04-12
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications.

A O'Brien , WY Aw , HY Tee , ... , A Pandya

European Journal of Human Genetics (EJHG) , 2021

 
0 29
2021-04-12
What people really change after genetic testing (GT) performed in private labs: results from an Italian study.

S Oliveri , C Cincidda , G Ongaro , ... , G Pravettoni

European Journal of Human Genetics (EJHG) , 2021

 
0 40
2021-04-09
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

M Hausman-Kedem , L Ben-Sira , D Kidron , ... , A Fattal-Valevski

European Journal of Human Genetics (EJHG) , 2021

 
0 44
2021-04-09
Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.

O Gervais , K Ueno , Y Kawai , ... , M Nagasaki

European Journal of Human Genetics (EJHG) , 2021

 
0 41
2021-04-09
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.

I Maceda , MM Álvarez , G Athanasiadis , ... , O Lao

European Journal of Human Genetics (EJHG) , 2021

 
0 25
2021-04-07
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.

Q Lao , DP Merke

European Journal of Human Genetics (EJHG) , 2021

 
0 9
2021-04-07
Reply to Lao Q and Merke DP.

S Baumgartner-Parzer , M Witsch-Baumgartner , W Hoeppner

European Journal of Human Genetics (EJHG) , 2021

 
0 3
2 RESULTS in 1132 msec
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

L El Khattabi , F Guimiot , E Pipiras , ... , A Delahaye

European Journal of Human Genetics (EJHG)
2015 - VOLUME 23, ISSUE 8 pp 1010-1018.
 
8 54
2020-12-08
PubPeer Comment

Oxychilus Pilula

PubPeer
2020 - VOLUME 2020, ISSUE 12
  External CQC
0 0
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

NJ Boczek , K Hopp , L Benoit , ... , EW Klee

European Journal of Human Genetics (EJHG)
2018 - VOLUME 26, ISSUE 12 pp 1797-1809.
 
5 25
2020-06-03
PubPeer Comment

Engelhardia Spicata

PubPeer
2020 - VOLUME 2020, ISSUE 6
  External CQC
0 0