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Article

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2016

de Goede Christian, Yue Wyatt W, Yan Guanhua, Ariyaratnam Shyamala, Chandler Kate E, Downes Laura, Khan Nasaim, Mohan Meyyammai, Lowe Martin, Banka Siddharth

Abstract excerpt

INTRODUCTION: Next Generation Sequencing (NGS) is a useful tool in diagnosis of rare disorders but the interpretation of data can be challenging in clinical settings. We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant. METHODS AND...

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Source

Identifiers

PMID: 26748598
DOI: 10.1016/j.ejpn.2015.11.012

Genes

RABL6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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