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

June 25, 2021

European Journal of Human Genetics (vol. 28, no. 9, 2018) is available online by subscription only.

Articles include:

  • “Communicating Genetic Information to Family Members: Analysis of Consent Forms for Diagnostic Genomic Sequencing” by Amicia Phillips, et al.
  • “Assessing the Stability of Biobank Donor Preferences regarding Sample Use: Evidence Supporting the Value of Dynamic Consent” by Joel E. Pacyna, et al. 
  • “Quality of Life drives Patients’ Preferences for Secondary Findings from Genomic Sequencing” by Chloe Mighton, et al.
  • “Cognitive and Affective Outcomes of Genetic Counselling in the Netherlands at Group and Individual Level: A Personalized Approach seems Necessary” by Jan S. Voorwinden, et al.
  • “Who Ever Feard of 16p11.2 Deletion Syndrome? Parents’ Perspectives on a Susceptibility copy Number Variation Syndrome” by Lotte Kleinendorst, et al.
  • “Predictive Genetic Testing in Huntington’s Disease: Should a Neurologist be Involved?” by Mayke Oosterloo, et al.
  • “Management of Information within Portuguese Families with Huntington Disease: A Transgenerational Process for putting the Puzzle Together” by Carla Roma Oliveira, et al.
  • “A Dominant Vimentin Variant Causes a Rare Syndrome with Premature Aging” by Benjamin Cogné, et al.
  • “High Rate of HDR in Gene Editing of p.(Thr158Met) MECP2 Mutational Hotspot” by Susanna Croci, et al.
  • “Functional Biology of the Steel Syndrome Founder Allele and Evidence for Clan Genomics Derivation of COL27A1 Pathogenic Alleles Worldwide” by Claudia Gonzaga-Jauregui, et al.
  • “Association of Congenital Cardiovascular Malformation and Neuropsychiatric Phenotypes with 15q11.2 (BP1–BP2) Deletion in the UK Biobank” by Simon G. Williams, et al.
  • “Using an Integrative Machine Learning Approach Utilising Homology Modelling to Clinically Interpret Genetic Variants: CACNA1F as an Exemplar” by Shalaw R. Sallah, et al.
  • “The Exhaustive Genomic Scan Approach, with an Application to Rare-Variant Association Analysis” by George Kanoungi, et al.

 

Posted by

Posted in Clinical / Medical, Disability Ethics, Education, Genetic Ethics, Global Bioethics, Healthcare, Human Dignity, Informed Consent, Journal Articles, Mental Health, Neuroethics, Pediatric, Public Health, Research Ethics

Ad