Publications by authors named "Susan Arbuckle"

53Publications

The Role of the Placenta in Perinatal Stroke: A Systematic Review.

J Child Neurol 2020 Oct 9;35(11):773-783. Epub 2020 Jun 9.

Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
October 2020

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Am J Hum Genet 2019 09 22;105(3):573-587. Epub 2019 Aug 22.

Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW 2145, Australia. Electronic address:

View Article and Find Full Text PDF
September 2019

Pullthrough Operation for Hirschsprung's Disease: Importance of a Circumferential (Donut) Biopsy at the Level of the Anastomosis.

European J Pediatr Surg Rep 2019 Jan 15;7(1):e55-e57. Epub 2019 Jul 15.

Department of Anatomical Pathology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
January 2019

A Rare Cause of Neonatal Cholestasis Without Liver Dysfunction.

Gastroenterology 2019 06 18;156(8):e9-e11. Epub 2019 Jan 18.

Department of Gastroenterology and Hepatology, The Children's Hospital at Westmead.

View Article and Find Full Text PDF
June 2019

The structure and utility of the placental pathology report.

APMIS 2018 Jul;126(7):638-646

Faculty of Biological, Medical and Human Sciences, School of Medical Sciences, Maternal and Fetal Health Research Centre, University of Manchester, Manchester, UK.

View Article and Find Full Text PDF
July 2018

Reduced angiogenic factor expression in intrauterine fetal growth restriction using semiquantitative immunohistochemistry and digital image analysis.

J Obstet Gynaecol Res 2018 May 1;44(5):861-872. Epub 2018 Feb 1.

The University of Sydney, Westmead Clinical School, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
May 2018

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

View Article and Find Full Text PDF
May 2016

Congenital Mesoblastic Nephroma Presenting With Hematuria in a Neonate: A Case Report.

Urology 2016 Feb 23;88:189-91. Epub 2015 Nov 23.

Department of Paediatric Surgery and Urology, Children's Hospital at Westmead, Sydney, New South Wales, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
February 2016

Placental inflammation is associated with rural and remote residence in the Northern Territory, Australia: a cross-sectional study.

BMC Pregnancy Childbirth 2015 Feb 14;15:32. Epub 2015 Feb 14.

School of Public Health, University of Sydney, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
February 2015

Diagnosis of fetal growth restriction in perinatal deaths using brain to liver weight ratios.

Pathology 2015 Jan;47(1):51-7

1NSW Biostatistical Officer Training Program, NSW Ministry of Health, Sydney 2Centre for Epidemiology and Evidence, NSW Ministry of Health, Sydney 3Department of Histopathology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article and Find Full Text PDF
January 2015

Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

JIMD Rep 2014 26;17:67-70. Epub 2014 Sep 26.

T.Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article and Find Full Text PDF
November 2014