Ayeshah Chaudhry

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Ayeshah Chaudhry, Abdul Noor, Bryan Degagne et al. · Clinical Genetics · 2014 · 70 citations

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne, Shuxiang Goh, Jade England et al. · Genetics in Medicine · 2020 · 35 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Rare Diseases +9

Heterozygous mutations in <i>ERF</i> cause syndromic craniosynostosis with multiple suture involvement

Ayeshah Chaudhry, Peter Sabatini, Liping Han et al. · American Journal of Medical Genetics Part A · 2015 · 29 citations

Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

Muhammad Rafiq, Ayeshah Chaudhry, Melanie Care et al. · American Journal of Medical Genetics Part A · 2017 · 18 citations