Publications by authors named "David Amor"

184Publications

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Authors:

Sheng Chih Jin Sara A Lewis Somayeh Bakhtiari Xue Zeng Michael C Sierant Sheetal Shetty Sandra M Nordlie Aureliane Elie Mark A Corbett Bethany Y Norton Clare L van Eyk Shozeb Haider Brandon S Guida Helen Magee James Liu Stephen Pastore John B Vincent Janice Brunstrom-Hernandez Antigone Papavasileiou Michael C Fahey Jesia G Berry Kelly Harper Chongchen Zhou Junhui Zhang Boyang Li Hongyu Zhao Jennifer Heim Dani L Webber Mahalia S B Frank Lei Xia Yiran Xu Dengna Zhu Bohao Zhang Amar H Sheth James R Knight Christopher Castaldi Irina R Tikhonova Francesc López-Giráldez Boris Keren Sandra Whalen Julien Buratti Diane Doummar Megan Cho Kyle Retterer Francisca Millan Yangong Wang Jeff L Waugh Lance Rodan Julie S Cohen Ali Fatemi Angela E Lin John P Phillips Timothy Feyma Suzanna C MacLennan Spencer Vaughan Kylie E Crompton Susan M Reid Dinah S Reddihough Qing Shang Chao Gao Iona Novak Nadia Badawi Yana A Wilson Sarah J McIntyre Shrikant M Mane Xiaoyang Wang David J Amor Daniela C Zarnescu Qiongshi Lu Qinghe Xing Changlian Zhu Kaya Bilguvar Sergio Padilla-Lopez Richard P Lifton Jozef Gecz Alastair H MacLennan Michael C Kruer

Nat Genet 2021 Jan 11. Epub 2021 Jan 11.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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January 2021

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

Authors:

Lilian Downie David J Amor Jane Halliday Sharon Lewis Melissa Martyn Ilias Goranitis

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.

Authors:

Amanda Brignell Conway Gu Alison Holm Bronwyn Carrigg Daisy A Sheppard David J Amor Angela T Morgan

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.

Authors:

Monique Peris Susan M Reid Stephen Dobie Leo Bonacquisto Daisy A Shepherd David J Amor

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.

Authors:

Joy Yaplito-Lee Gautham Pai Winita Hardikar Kai M Hong James Pitt Justine Marum David J Amor

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

Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Authors:

Lilian Downie Jane Halliday Rachel Burt Sebastian Lunke Elly Lynch Melissa Martyn Zeffie Poulakis Clara Gaff Valerie Sung Melissa Wake Matthew F Hunter Kerryn Saunders Elizabeth Rose Sharon Lewis Anna Jarmolowicz Dean Phelan Heidi L Rehm David J Amor

Eur J Hum Genet 2020 Nov 9. Epub 2020 Nov 9.

Victorian Clinical Genetics Services, Melbourne, VIC, Australia.

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November 2020

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

Authors:

Giulia M Valente David J Amor Liane J Ioannou Alison D Archibald

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.

Authors:

Emma K Baker Merlin G Butler Samantha N Hartin Ling Ling Minh Bui David Francis Carolyn Rogers Michael J Field Jennie Slee Dinusha Gamage David J Amor David E Godler

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

Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain.

Authors:

Mathew Wallis Rachel Pope-Couston Julia Mansour David J Amor Paisu Tang Sharyn Stock-Myer

Am J Med Genet A 2021 01 27;185(1):150-156. Epub 2020 Oct 27.

Virtus Diagnostics, East Melbourne, Victoria, Australia.

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January 2021

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.

Authors:

Claudine M Kraan Emma K Baker Marta Arpone Minh Bui Ling Ling Dinusha Gamage Lesley Bretherton Carolyn Rogers Michael J Field Tiffany L Wotton David Francis Matt F Hunter Jonathan Cohen David J Amor David E Godler

Int J Mol Sci 2020 Oct 19;21(20). Epub 2020 Oct 19.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

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October 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Authors:

Sheng Chih Jin Sara A Lewis Somayeh Bakhtiari Xue Zeng Michael C Sierant Sheetal Shetty Sandra M Nordlie Aureliane Elie Mark A Corbett Bethany Y Norton Clare L van Eyk Shozeb Haider Brandon S Guida Helen Magee James Liu Stephen Pastore John B Vincent Janice Brunstrom-Hernandez Antigone Papavasileiou Michael C Fahey Jesia G Berry Kelly Harper Chongchen Zhou Junhui Zhang Boyang Li Hongyu Zhao Jennifer Heim Dani L Webber Mahalia S B Frank Lei Xia Yiran Xu Dengna Zhu Bohao Zhang Amar H Sheth James R Knight Christopher Castaldi Irina R Tikhonova Francesc López-Giráldez Boris Keren Sandra Whalen Julien Buratti Diane Doummar Megan Cho Kyle Retterer Francisca Millan Yangong Wang Jeff L Waugh Lance Rodan Julie S Cohen Ali Fatemi Angela E Lin John P Phillips Timothy Feyma Suzanna C MacLennan Spencer Vaughan Kylie E Crompton Susan M Reid Dinah S Reddihough Qing Shang Chao Gao Iona Novak Nadia Badawi Yana A Wilson Sarah J McIntyre Shrikant M Mane Xiaoyang Wang David J Amor Daniela C Zarnescu Qiongshi Lu Qinghe Xing Changlian Zhu Kaya Bilguvar Sergio Padilla-Lopez Richard P Lifton Jozef Gecz Alastair H MacLennan Michael C Kruer

Nat Genet 2020 10 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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October 2020

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Mol Genet Genomic Med 2020 11 23;8(11):e1508. Epub 2020 Sep 23.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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November 2020

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Eur J Hum Genet 2021 Jan 16;29(1):79-87. Epub 2020 Jul 16.

Murdoch Children's Research Institute, Parkville, VIC, Australia.

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January 2021

FMR1 mRNA from full mutation alleles is associated with ABC-C scores in males with fragile X syndrome.

Sci Rep 2020 07 16;10(1):11701. Epub 2020 Jul 16.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.

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July 2020

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.

Authors:

Daisy A Shepherd Niels Vos Susan M Reid David E Godler Angela Guzys Margarita Moreno-Betancur David J Amor

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

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Hum Mutat 2020 Sep 15;41(9):1615-1628. Epub 2020 Jul 15.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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September 2020

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:

Sebastian Lunke Stefanie Eggers Meredith Wilson Chirag Patel Christopher P Barnett Jason Pinner Sarah A Sandaradura Michael F Buckley Emma I Krzesinski Michelle G de Silva Gemma R Brett Kirsten Boggs David Mowat Edwin P Kirk Lesley C Adès Lauren S Akesson David J Amor Samantha Ayres Anne Baxendale Sarah Borrie Alessandra Bray Natasha J Brown Cheng Yee Chan Belinda Chong Corrina Cliffe Martin B Delatycki Matthew Edwards George Elakis Michael C Fahey Andrew Fennell Lindsay Fowles Lyndon Gallacher Megan Higgins Katherine B Howell Lauren Hunt Matthew F Hunter Kristi J Jones Sarah King Smitha Kumble Sarah Lang Maelle Le Moing Alan Ma Dean Phelan Michael C J Quinn Anna Richards Christopher M Richmond Jessica Riseley Jonathan Rodgers Rani Sachdev Simon Sadedin Luregn J Schlapbach Janine Smith Amanda Springer Natalie B Tan Tiong Y Tan Suzanna L Temple Christiane Theda Anand Vasudevan Susan M White Alison Yeung Ying Zhu Melissa Martyn Stephanie Best Tony Roscioli John Christodoulou Zornitza Stark

JAMA 2020 06;323(24):2503-2511

Australian Genomics Health Alliance, Parkville, Australia.

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June 2020

Genetics and pediatric hospital admissions, 1985 to 2017.

Authors:

Stephanie Gjorgioski Jane Halliday Merilyn Riley David J Amor Martin B Delatycki Agnes Bankier

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

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Genet Med 2020 Oct 5;22(10):1623-1632. Epub 2020 Jun 5.

Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.

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October 2020

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Am Heart J 2020 07 21;225:108-119. Epub 2020 Apr 21.

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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July 2020