Literature DB >> 35094930

Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.

Jörg Schmidtke1, Michael Krawczak2.   

Abstract

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Year:  2022        PMID： 35094930     DOI： 10.1016/j.gim.2022.01.003

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  2 in total

1.  Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.

Authors:  Jörg Schmidtke; Michael Krawczak
Journal:  J Community Genet       Date:  2022-06-04

2.  Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Authors:  Paranchai Boonsawat; Anselm H C Horn; Katharina Steindl; Alessandra Baumer; Pascal Joset; Dennis Kraemer; Angela Bahr; Ivan Ivanovski; Elena M Cabello; Michael Papik; Markus Zweier; Beatrice Oneda; Pietro Sirleto; Tilo Burkhardt; Heinrich Sticht; Anita Rauch
Journal:  NPJ Genom Med       Date:  2022-07-29       Impact factor: 6.083
  2 in total

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