Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- Creator: Francis, David I. , Stark, Zornitza , Krzesinski, Emma I. , Vasudevan, Anand , Oertel, Ralph , Petrovic, Vida , Boys, Amber , Wei, Vivian , Burgess, Trent , Dun, Karen , Oliver, Karen L. , Baxter, Anne , Scheffer, Ingrid E. , Hackett, Anna , Ayres, S , Lunke, S , Kalitsis, P , Wall, M , Tan, Tiong Yang , Murali, Krithika , Gallacher, Lyndon , Amor, David J. , Goel, Himanshu , Downie, Lilian , Stutterd, Chloe A.
- Resource Type: journal article
- Date: 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , Mossman, Stuart , Mu, Weiyi , Patrikios, Peter , Perlman, Susan L. , Rosemergy, Ian , Storey, Elsdon , Watson, Shaun R. D. , Wilson, Michael A. , Zee, David S. , Valle, David , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Childhood Hearing Australasian Medical Professionals network: consensus guidelines on investigation and clinical management of childhood hearing loss
- Creator: Sung, Valerie , Downie, Lilian , Peacock, Kenneth , Roddick, Laurence , Rose, Elizabeth , Saunders, Kerryn , Amor, David J. , Paxton, Georgia A. , Liddle, Karen , Birman, Catherine S. , Chan, Wei Wei , Cottier, Carolyn , Harris, Alison , Hunter, Matthew , Peadon, Elizabeth
- Resource Type: journal article
- Date: 2019
Expansion of phenotype of DDX3X syndrome: six new cases
- Creator: Beal, Bryony , Hayes, Ian , Mcgaughran, Julie , Amor, David J. , Miteff, Christina , Jackson, Victoria , van Reyk, Olivia , Subramanian, Gopinath , Hildebrand, Michael S. , Morgan, Angela T. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
- Creator: Dagar, Vinod , Hutchison, Wendy , Muscat, Andrea , Krishnan, Anita , Hoke, David , Buckle, Ashley , Siswara, Priscillia , Amor, David J. , Mann, Jeffrey , Pinner, Jason , Colley, Alison , Wilson, Meredith , Sachdev, Rani , McGillivray, George , Edwards, Matthew , Kirk, Edwin , Collins, Felicity , Jones, Kristi , Taylor, Juliet , Hayes, Ian , Dudding-Byth, Tracey
- Resource Type: journal article
- Date: 2018