A New Edition of European Journal of Human Genetics Is Now Available

January 3, 2022

European Journal of Human Genetics (vol. 29, no. 8, 2021) is available online by subscription only. 

Articles include: 

  • “Whole Exome Sequencing Reveals Putatively Novel Associations in Retinopathies and Drusen Formation” by Lance P. Doucette, et al. 
  • “Speech and Language Deficits are Central to SETBP1 Haploinsufficiency Disorder” by Angela Morgan, et al. 
  • “Pathogenic Variants in PIDD1 Lead to an Autosomal Recessive Neurodevelopmental Disorder with Pachygyria and Psychiatric Features” by Maha S. Zaki, et al. 
  • “Parent Clinical Trial Priorities for Fragile X Syndrome: A Best–Worst Scaling” by Erin Turbitt, et al. 
  • “Couples’ Experiences with Expanded Carrier Screening: Evaluation of a University Hospital Screening Offer” by Ivy van Dijke, et al. 
  • “Comprehensive Germline-Genomic and Clinical Profiling in 160 Unselected Children and Adolescents with Cancer” by Rabea Wagener, et al. 

 

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Posted in Clinical / Medical, Genetic Ethics, Healthcare, Journal Articles, Neuroethics, Pediatric, Pharma, Reproductive Ethics, Research Ethics

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