Literature Highlights

Whole Exome Sequencing

July 2025

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report

Lance H. Rodan, MD; Joan Stoler, MD, FAAP; Emily Chen, MD, PhD; Timothy Geleske, MD, FAAP;, the Council on Genetics

AAP now recommends genome/exome testing as Tier 1 priority for intellectual disability — a major development for FOXP1 diagnosis.

AAP Diagnosis Genetics Policy Whole Exome Sequencing

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October 2018

Whole exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, MD, FACMG (2018)

Whole exome sequencing identifies FOXP1 variants linked to congenital anomalies of the kidney and urinary tract.

Diagnosis Genetics Kidney Whole Exome Sequencing

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