Trent Burgess

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

David I Francis, Zornitza Stark, Ingrid E Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J Amor, Himanshu Goel, Lilian Downie, Chloe A Stutterd, Emma I Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L Oliver, Anne Baxter, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic co..

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Nicola Jane Flowers, Trent Burgess, Olivia Giouzeppos, Grace Shi, Clare Jane Love, Clare Elizabeth Hunt, Katrina Louise Scarff, Alison Dalton Archibald, Mark Domenic Pertile

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Balanced reciprocal translocation carriers are at increased risk of producing gametes with unbalanced forms of the transl..

Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

Michael T Gabbett, Johanna Laporte, Renuka Sekar, Adayapalam Nandini, Pauline McGrath, Yadav Sapkota, Peiyong Jiang, Haiqiang Zhang, Trent Burgess, Grant W Montgomery, Rossa Chiu, Nicholas M Fisk

Journal article  |  2019  |  NEW ENGLAND JOURNAL OF MEDICINE

Sesquizygotic multiple pregnancy is an exceptional intermediate between monozygotic and dizygotic twinning. We report a monochorio..

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Anand K Ramineni, Trent Burgess, Penny Cruickshanks, David Coman

Journal article  |  2019  |  CLINICAL CASE REPORTS

We report a novel 9q31.2q32 (chr9: 109195179-113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short statur..

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan

Journal article  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speec..

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child

Brooke E Harcourt, Denise VR Bullen, Kung-Ting Kao, Daniella Tassoni, Erin J Alexander, Trent Burgess, Susan M White, Matthew A Sabin

Journal article  |  2018  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Childhood obesity is a significant world health problem. Understanding the genetic and environmental factors contributing to the d..

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

Jean Lillian Paul, Rachel Pope-Couston, Samantha Wake, Trent Burgess, Tiong Yang Tan

Journal article  |  2017  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Letter-writing is an integral practice for genetic health professionals. In Victoria, Australia, patients with a chromosomal varia..

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves

A Faure, A Bouty, G Caruana, L Williams, T Burgess, MN Wong, PA James, M O'Brien, A Walker, JF Bertram, Y Heloury

Journal article  |  2016  |  JOURNAL OF PEDIATRIC UROLOGY

INTRODUCTION: Posterior urethral valves (PUV) are among the most common urological causes of chronic kidney disease (CKD) in child..

Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions

Megan Cotter, Alison D Archibald, Belinda J McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2016  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An audit was conducted of laboratory/clinical databases of genetic tests performed between January 2003 and December 2009, and for..

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Melanie Leffler, Sanna Puusepp, Olga Zilina, Ying Zhu, Kati Kuuse, Nicole Bain, Trent Burgess, Katrin Ounap, Michael Field

Journal article  |  2016  |  EUROPEAN JOURNAL OF MEDICAL GENETICS

Terminal duplications of 15q26.3 are associated with an overgrowth phenotype, distinct facial features and intellectual disability..