European Journal of Human Genetics

Journal

Publication Venue For

  • Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.  30:1423-1431. 2022
  • A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection.  30:889-898. 2022
  • Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.  30:271-281. 2022
  • Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.  30:291-297. 2022
  • Mapping pleiotropic loci using a fast-sequential testing algorithm.  29:1762-1773. 2021
  • Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities.  29:1438-1445. 2021
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.  29:271-279. 2021
  • A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.  28:1422-1431. 2020
  • De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.  26:1635-1647. 2018
  • Haplotype-based stratification of Huntington's disease.  25:1202-1209. 2017
  • A new mutation in GFAP widens the spectrum of Alexander disease.  23:1-2. 2015
  • Brain tumor risk according to germ-line variation in the MLLT10 locus.  23:132-134. 2015
  • Correction for multiple testing in a gene region.  22:414-418. 2014
  • A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domain.  22:594-601. 2014
  • The phenotype associated with a large deletion on MECP2.  20:921-927. 2012
  • Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome.  20:618-625. 2012
  • Characterization of autosomal copy-number variation in African Americans: The HyperGEN Study.  19:1271-1275. 2011
  • Variable selection in logistic regression for detecting SNP-SNP interactions: The rheumatoid arthritis example.  16:735-741. 2008
  • Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.  13:52-58. 2005
  • The deleted in colorectal carcinoma (DCC) gene 201 R→G polymorphism: No evidence for genetic association with autoimmune disease.  11:840-844. 2003
  • Combined analysis of genomewide scans for adult height: Results from the NHLBI family blood pressure program.  11:271-274. 2003
  • Is DFNA5 a susceptibility gene for age-related hearing impairment?.  10:883-886. 2002
  • A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.  10:334-338. 2002
  • Genomic structure of the gene for the human p1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.  8:163-166. 2000
  • Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2).  6:534-541. 1998
  • Refined genetic and physical mapping of BPES type II.  4:34-38. 1996

    • International Standard Serial Number (issn)

  • 1018-4813

    • Electronic International Standard Serial Number (eissn)

  • 1476-5438