2026 David J. Amor: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	72	2124	2020	73	71	296	16972

Overview

David J. Amor is affiliated with the Murdoch Children's Research Institute in Australia. Their research spans multiple fields within biochemistry, genetics, molecular biology, and medicine, with a strong emphasis on genetics and neurodevelopmental disorders.

The primary fields of study encompassed in Amor's work include:

Biochemistry, Genetics and Molecular Biology
Medicine

Their subfields of study further specify the focus areas as:

Genetics
Molecular Biology
Pediatrics, Perinatology and Child Health
Cognitive Neuroscience
Developmental and Educational Psychology

Amor's research topics often address the following scientific domains:

Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics
Autism Spectrum Disorder Research
Congenital heart defects research
Epigenetics and DNA Methylation

Some of the recent papers authored or co-authored by Amor include:

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, 2020, JAMA
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy, 2020, Nature Genetics
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders, 2021, Human Genetics and Genomics Advances
Severe childhood speech disorder, 2020, Neurology
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study, 2021, The Lancet Oncology

Frequent co-authors collaborating with Amor include:

Angela Morgan
Jane Halliday
Emma K. Baker
Ruth Braden
Himanshu Goel

The scientist publishes regularly in specific venues, such as:

European Journal of Human Genetics
Genetics in Medicine
Developmental Medicine & Child Neurology
American Journal of Medical Genetics Part A
The American Journal of Human Genetics

Best Publications

Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Dong Chuan Guo;Hariyadarshi Pannu;Van Tran-Fadulu;Christina L. Papke

959
Citations
Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study

Jane Halliday;Jane Halliday;Kay Oke;Sue Breheny;Elizabeth Algar;Elizabeth Algar

451
Citations
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark;Tiong Y. Tan;Belinda Chong;Gemma R. Brett

378
Citations
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan;Oliver James Dillon;Zornitza Stark;Deborah Schofield;Deborah Schofield

373
Citations
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen

315
Citations
Neocentromeres: role in human disease, evolution, and centromere study.

David J. Amor;K.H. Andy Choo

312
Citations
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Elizabeth K. Bancroft;Elizabeth C. Page;Elena Castro;Hans Lilja

287
Citations
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

Nicole Revencu;Laurence M. Boon;Antonella Mendola;Maria Rosa Cordisco

287
Citations
A review of known imprinting syndromes and their association with assisted reproduction technologies

David J. Amor;Jane Halliday

287
Citations
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere;Nicole Revencu;Raphaël Helaers;Eleonore Pairet

284
Citations
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi;Haloom Rafehi;David J. Szmulewicz;Mark F. Bennett;Mark F. Bennett;Nara L.M. Sobreira

270
Citations
Human centromere repositioning “in progress”

David J. Amor;Karen Bentley;Jacinta Ryan;Jo Perry

267
Citations
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

Bruno Vaz;Marta Popovic;Joseph A. Newman;John Fielden

237
Citations
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Gabrielle Rosalie Anne-Ma Wilson;Joe Chou Hung Sim;Catriona Ann McLean;Maila Giannandrea

235
Citations
Building the centromere: from foundation proteins to 3D organization

David J. Amor;Paul Kalitsis;Huseyin Sumer;K.H. Andy Choo

232
Citations
The Genetic Landscape of Diamond-Blackfan Anemia.

Jacob C. Ulirsch;Jacob C. Ulirsch;Jeffrey M. Verboon;Jeffrey M. Verboon;Shideh Kazerounian;Michael H. Guo

224
Citations
Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdalena Harakalova;Jeske J T van Harssel;Paulien A Terhal;Stef van Lieshout

209
Citations
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel;Davor Lessel;Bruno Vaz;Swagata Halder;Swagata Halder;Paul J Lockhart

204
Citations
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Robert McFarland;Denise M. Kirby;Denise M. Kirby;Kerry J. Fowler;Kerry J. Fowler;Akira Ohtake

187
Citations
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system

Sebastian Lunke;Stefanie Eggers;Meredith Wilson;Chirag Patel

186
Citations

Frequent Co-Authors

Melanie Bahlo Walter and Eliza Hall Institute of Medical Research

Paul J. Lockhart Murdoch Children's Research Institute

Ravi Savarirayan Murdoch Children's Research Institute

Susan M. White University of Arizona

Zornitza Stark University of Melbourne

Robert I McLachlan Monash University

Ingrid E. Scheffer University of Melbourne

Lex W. Doyle University of Melbourne

Tony Roscioli University of New South Wales

Richard Saffery University of Melbourne

External Links

Personal website of David J. Amor

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