Search

Author/Creator Stapleton, Rachel

1. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. (December 2018)

Authors:
Stark, Zornitza; Lunke, Sebastian; Brett, Gemma; Tan, Natalie; Stapleton, Rachel; Kumble, Smitha; Yeung, Alison; Phelan, Dean; Chong, Belinda; Fanjul-Fernandez, Miriam; Marum, Justine; Hunter, Matthew; Jarmolowicz, Anna; Prawer, Yael; Riseley, Jessica; Regan, Matthew; Elliott, Justine; Martyn, Me...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1554
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020)

Authors:
Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020)

Authors:
Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Issue 4 (2nd October 2018)

Authors:
McKeown, Colina; Connors, Samantha; Stapleton, Rachel; Morgan, Tim; Hayes, Ian; Neas, Katherine; Dixon, Joanne; Gibson, Kate; Markie, David M.; Tsai, Peter; Blenkiron, Cherie; Fitzgerald, Sandra; Shields, Paula; Yap, Patrick; Lawrence, Ben; Print, Cristin; Robertson, Stephen P.
Journal:
Journal of the Royal Society of New Zealand
Issue:
Volume 48:Issue 4(2018)
Page Start:
262
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021)

Authors:
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 5(2022)
Page Start:
511
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗