H
Heidi Carmen Howard
Researcher at Uppsala University
Publications - 92
Citations - 3243
Heidi Carmen Howard is an academic researcher from Uppsala University. The author has contributed to research in topics: Genetic testing & Health care. The author has an hindex of 30, co-authored 87 publications receiving 2692 citations. Previous affiliations of Heidi Carmen Howard include Université de Montréal & Lund University.
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Journal ArticleDOI
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Wybo Dondorp,Guido de Wert,Yvonne Bombard,Diana W. Bianchi,Carsten Bergmann,Pascal Borry,Lyn S. Chitty,Florence Fellmann,Francesca Forzano,Alison Hall,Lidewij Henneman,Heidi Carmen Howard,Anneke Lucassen,Kelly E. Ormond,Borut Peterlin,Dragica Radojkovic,Wolf Rogowski,Maria Soller,Aad Tibben,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Carla G. van El,Martina C. Cornel +22 more
TL;DR: This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects.
Journal ArticleDOI
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Heidi Carmen Howard,David B. Mount,David B. Mount,Daniel Rochefort,Nellie Byun,Nicolas Dupré,Jianming Lu,Xuemo Fan,Luyan Song,Jean Baptiste Rivière,Claude Prévost,Jürgen Horst,Alessandro Simonati,Beate Lemcke,Richard Welch,Roger England,Frank Q. Zhan,Adriana Mercado,Adriana Mercado,William B. Siesser,Alfred L. George,Michael P. McDonald,Jean-Pierre Bouchard,Jean Mathieu,Eric Delpire,Guy A. Rouleau +25 more
TL;DR: These findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC 12A6 in the development and maintenance of the nervous system.
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Responsible implementation of expanded carrier screening
Lidewij Henneman,Pascal Borry,Davit Chokoshvili,Davit Chokoshvili,Martina C. Cornel,Carla G. van El,Francesca Forzano,Alison Hall,Heidi Carmen Howard,Sandra Janssens,Hülya Kayserili,Phillis Lakeman,Anneke Lucassen,Sylvia A Metcalfe,Lovro Vidmar,Guido de Wert,Wybo Dondorp,Borut Peterlin +17 more
TL;DR: The challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in thecontext of existing screening criteria are discussed.
Journal ArticleDOI
Preconceptional genetic carrier testing and the commercial offer directly-to-consumers
Pascal Borry,Pascal Borry,Lidewij Henneman,Phillis Lakeman,Leo P. ten Kate,Martina C. Cornel,Heidi Carmen Howard +6 more
TL;DR: The article discusses the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and theneed for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources.
Journal ArticleDOI
Legislation on direct-to-consumer genetic testing in seven European countries
Pascal Borry,Pascal Borry,Rachèl E. van Hellemondt,Dominique Sprumont,Camilla Fittipaldi Duarte Jales,Emmanuelle Rial-Sebbag,Tade Matthias Spranger,Liam Curren,Jane Kaye,Herman Nys,Heidi Carmen Howard +10 more
TL;DR: The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned.