Amelle Shillington
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Explore the profile of Amelle Shillington including associated specialties, affiliations and a list of published articles.
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21
Citations
86
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Recent Articles
1.
Liu V, Hanson E, Owens J, Hopkin R, Shillington A
Brain Behav
. 2025 Feb;
15(2):e70276.
PMID: 39915227
Purpose: This case discusses the limits of neurodevelopmental functioning attributable to Duchenne's Muscular Dystrophy (DMD) dysfunction. Method: A 3-year-old male presented with global developmental delay, growth failure, and dysmorphic facial...
2.
Zehr K, Buckley M, Owens J, Vanagunas T, Fernandez P, Hopkin R, et al.
Am J Med Genet A
. 2025 Jan;
e64000.
PMID: 39840454
Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first...
3.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
4.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
5.
Chang X, Li W, Matsui S, Huynh C, Cederquist G, Studer L, et al.
bioRxiv
. 2024 Oct;
PMID: 39464123
Despite the litany of pathogenic variants linked to neurodevelopmental disorders (NDD) including autism (ASD) and intellectual disability , our understanding of the underlying mechanisms caused by risk genes remain unclear....
6.
Rubadeux D, Owens J, Shillington A
Mol Syndromol
. 2024 Aug;
15(4):328-332.
PMID: 39119451
Introduction: Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of . Variants in this final exon of interrupt the regulatory PEST...
7.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, Lopez-Menendez C, Pose-Utrilla J, Castberg F, et al.
Genet Med
. 2024 Jul;
26(11):101219.
PMID: 39033379
Purpose: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising...
8.
Tauer K, Theile C, Owens J, Cecil K, Shillington A
Psychiatr Genet
. 2024 Jun;
34(4):86-90.
PMID: 38842011
X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small...
9.
Zappia K, Shillington A, Fosdick C, Erickson C, Lamy M, Dominick K
J Dev Behav Pediatr
. 2024 Mar;
45(2):e137-e142.
PMID: 38451868
Objective: Catatonia is a distinct and severe medical syndrome comprising motor, somatic, and psychiatric symptoms that is reported in upwards of 17% of young patients with autism spectrum disorders. Clinical...
10.
Sewani S, Azamian M, Mendelsohn B, Mau-Them F, Reda M, Nambot S, et al.
Am J Med Genet A
. 2023 Oct;
194(3):e63445.
PMID: 37872713
The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that...