Literature DB >> 28759672

High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders.

Johannes R Lemke1.   

Abstract

Mesh：

Year:  2017        PMID： 28759672     DOI： 10.1001/jamapediatrics.2017.1970

Source DB:  PubMed          Journal:  JAMA Pediatr        ISSN： 2168-6203            Impact factor:   16.193


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  3 in total

1.  Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Authors:  Alexandra Bower; Apolline Imbard; Jean-François Benoist; Samia Pichard; Odile Rigal; Olivier Baud; Manuel Schiff
Journal:  Sci Rep       Date:  2019-10-01       Impact factor: 4.379

2.  Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Authors:  Skadi Beblo; Bernt Popp; Julia Klau; Rami Abou Jamra; Maximilian Radtke; Henry Oppermann; Johannes R Lemke
Journal:  Eur J Hum Genet       Date:  2021-10-25       Impact factor: 5.351

Review 3.  From public health genomics to precision public health: a 20-year journey.

Authors:  Muin J Khoury; M Scott Bowen; Mindy Clyne; W David Dotson; Marta L Gwinn; Ridgely Fisk Green; Katherine Kolor; Juan L Rodriguez; Anja Wulf; Wei Yu
Journal:  Genet Med       Date:  2017-12-14       Impact factor: 8.822
  3 in total

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