David J Amor
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Explore the profile of David J Amor including associated specialties, affiliations and a list of published articles.
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246
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4891
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Recent Articles
1.
Xifaras R, Amor D, Turbitt E, Kraan C
J Dev Behav Pediatr
. 2025 Feb;
46(1):e4-e9.
PMID: 39960782
Objective: Wearable technology has potential benefits for clinical measurement with children who have neurodevelopmental disorders (NDDs). However, this cohort may experience sensory processing disorder, behavioral dysregulation, and cognitive challenges. For...
2.
Baker E, St John M, Braden R, Morison L, Forbes E, Lelik F, et al.
Dev Med Child Neurol
. 2025 Jan;
PMID: 39846212
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes...
3.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med
. 2024 Dec;
27(3):101348.
PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
4.
Kraan C, Bui M, Archibald A, Davison S, Cvejic R, Metcalfe S, et al.
Genet Med Open
. 2024 Dec;
1(1):100829.
PMID: 39669254
Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an premutation (PM) is needed for counseling and primary healthcare. Methods:...
5.
Atkinson C, Lee Y, Lauretta M, Jarmolowicz A, Amor D, Morgan A
Eur J Hum Genet
. 2024 Dec;
PMID: 39653744
Rare and typically severe motor speech disorders such as childhood apraxia of speech (CAS) and dysarthria affect about 1 in 1000 children. The genetic basis of these speech disorders is...
6.
Cortese A, Beecroft S, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, et al.
Nat Commun
. 2024 Oct;
15(1):8955.
PMID: 39419991
No abstract available.
7.
Gokoolparsadh A, Bourne M, McEwen A, Amor D, Turbitt E
Disabil Health J
. 2024 Oct;
18(2):101718.
PMID: 39406643
Background: Conversations about prognosis for genetic neurodevelopmental conditions are becoming more frequent; however, there is a lack of evidence and guidance on how to approach these conversations and frame the...
8.
Alshawsh M, Wake M, Gecz J, Corbett M, Saffery R, Pitt J, et al.
Epigenomics
. 2024 Oct;
16(18):1203-1214.
PMID: 39365098
This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening...
9.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
10.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...