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Stapleton, Rachel
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1

Case report of unaffected male with int22h1/int22h2-mediate..:

Stapleton, Rachel ; Prince, Matthew ; Drake, Kylie...
Pathology.  55 (2023)  - p. S92 , 2023
Link: https://doi.org/10.1016/..
 
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2

Correction: Clinical findings and a DNA methylation signatu..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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3

Digital droplet PCR (ddPCR) to investigate parental mosaici..:

Stapleton, Rachel ; Prince, Matthew ; Reid, Hannah..
Pathology.  55 (2023)  - p. S92 , 2023
Link: https://doi.org/10.1016/..
 
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4

Clinical findings and a DNA methylation signature in kindre..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics.  30 (2022)  4 - p. 420-427 , 2022
Link: https://doi.org/10.1038/..
 
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5

A recurrent missense variant in EYA3 gene is associated wit..:

Tingaud-Sequeira, Angèle ; Trimouille, Aurélien ; Salaria, Manju...
Human Genetics.  140 (2021)  6 - p. 933-944 , 2021
Link: https://doi.org/10.1007/..
 
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6

Evaluating systematic reanalysis of clinical genomic data i..:

Tan, Natalie B. ; Stapleton, Rachel ; Stark, Zornitza...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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7

Use of ultra‐rapid whole‐exome sequencing to diagnose conge..:

Shanthikumar, Shivanthan ; Kevat, Ajay ; Stapleton, Rachel...
Pediatric Pulmonology.  55 (2020)  4 - p. 855-857 , 2020
Link: https://doi.org/10.1002/..
 
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8

A cost-effectiveness analysis of genomic sequencing in a pr..:

Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y....
Genetics in Medicine.  22 (2020)  12 - p. 1986-1993 , 2020
Link: https://doi.org/10.1038/..
 
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9

Meeting the challenges of implementing rapid genomic testin..:

Stark, Zornitza ; Lunke, Sebastian ; Brett, Gemma R....
Genetics in Medicine.  20 (2018)  12 - p. 1554-1563 , 2018
Link: https://doi.org/10.1038/..
 
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10

A pilot study of exome sequencing in a diverse New Zealand ..:

McKeown, Colina ; Connors, Samantha ; Stapleton, Rachel...
Journal of the Royal Society of New Zealand.  48 (2018)  4 - p. 262-279 , 2018
Link: https://doi.org/10.1080/..
 
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11

Rapid genomic testing in acute paediatric care: Is it worth..:

Stark, Zornitza ; Lunke, Sebastian ; Brett, Gemma R....
Pathology.  50 (2018)  - p. S59 , 2018
Link: https://doi.org/10.1016/..
 
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12

Genetic, Radiologic, and Clinical Variability in Brown-Vial..:

Woodcock, Ian R. ; Menezes, Manoj P. ; Coleman, Lee...
Seminars in Pediatric Neurology.  26 (2018)  - p. 2-9 , 2018
Link: https://doi.org/10.1016/..
 
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13

Haploinsufficiency for ANKRD11-flanking genes makes the dif..:

Novara, Francesca ; Rinaldi, Berardo ; Sisodiya, Sanjay M...
European Journal of Human Genetics.  25 (2017)  6 - p. 694-701 , 2017
Link: https://doi.org/10.1038/..
 
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14

Iconoclasm: the breaking and making of images:

Stapleton, Rachel F ; Viselli, Antonio , 2019
Link: https://search.ebscohost..
 
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15

A recurrent missense variant in EYA3 gene is associated wit..:

TINGAUD-SEQUEIRA, Angele ; TRIMOUILLE, Aurelien ; SALARIA, Manju...
0340-6717 (print) 1432-1203 (online).  , 2021
Link: https://oskar-bordeaux.f..
 
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