European Journal of Human Genetics

Journal

Publication Venue For

  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 2020
  • A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome 2020
  • 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
  • Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.  22:79-87. 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
  • Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.  17:454-466. 2009
  • 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
  • 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