Publications by authors named "David Amor"

184Publications

Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis.

Laryngoscope 2020 Dec 31. Epub 2020 Dec 31.

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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December 2020

Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.

Eur J Hum Genet 2020 Dec 8. Epub 2020 Dec 8.

Murdoch Children's Research Institute, Melbourne, Australia.

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December 2020

First-trimester maternal serum biomarkers and the risk of cerebral palsy.

Dev Med Child Neurol 2021 Feb 18;63(2):183-189. Epub 2020 Nov 18.

Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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February 2021

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

JIMD Rep 2020 Nov 18;56(1):14-19. Epub 2020 Aug 18.

Department of Paediatrics University of Melbourne Melbourne Victoria Australia.

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November 2020

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.

Aust N Z J Obstet Gynaecol 2020 Nov 2. Epub 2020 Nov 2.

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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November 2020

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.

Transl Psychiatry 2020 10 29;10(1):362. Epub 2020 Oct 29.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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October 2020

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.

Genes (Basel) 2020 07 2;11(7). Epub 2020 Jul 2.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, Australia.

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July 2020

Genetics and pediatric hospital admissions, 1985 to 2017.

Genet Med 2020 Nov 19;22(11):1777-1785. Epub 2020 Jun 19.

Royal Children's Hospital, Melbourne, Australia.

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November 2020