Publications by authors named "Rachel Stapleton"

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Rachel Stapleton

Eur J Hum Genet· December 2023

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Recurrent missense variants in can cause syndromic intellectual disability.
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hy Chung, Rachel Stapleton

J Med Genet· May 2022

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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Rachel Stapleton

Eur J Hum Genet· April 2022

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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol

Hum Genet· June 2021

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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Rachel Stapleton

Genet Med· December 2020

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung

Mol Genet Genomic Med· November 2020

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Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.
Shivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, Sebastian Lunke, Zornitza Stark

Pediatr Pulmonol· April 2020

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Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton

Genet Med· December 2018

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Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.
Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Rachel Stapleton

Semin Pediatr Neurol· July 2018

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Rachel Stapleton

Eur J Hum Genet· June 2017

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