Roberto Mendoza-Londono
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Explore the profile of Roberto Mendoza-Londono including associated specialties, affiliations and a list of published articles.
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96
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2890
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Recent Articles
1.
Wener E, Cushing S, Papsin B, Stavropoulos D, Mendoza-Londono R, Quercia N, et al.
Otolaryngol Head Neck Surg
. 2025 Feb;
PMID: 40008839
Objective: To assess the added benefit of newborn genetic screening for GJB2 and SLC26A4 variants in conjunction with newborn hearing screening. Study Design: Retrospective cohort study. Methods: Children with known...
2.
Degeling K, Tagimacruz T, MacDonald K, Seeger T, Fooks K, Venkataramanan V, et al.
Appl Health Econ Health Policy
. 2024 Dec;
PMID: 39739296
Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic...
3.
Pipko N, Oh R, Kaplan A, Shugar A, Szuto A, Weinstein M, et al.
Br J Dermatol
. 2024 Nov;
PMID: 39579378
No abstract available.
4.
Ghasempour S, Warner N, Guan R, Rodari M, Ivanochko D, Whittaker Hawkins R, et al.
J Exp Med
. 2024 Nov;
221(12).
PMID: 39526957
Integrin heterodimers containing an Integrin alpha V subunit are essential for development and play critical roles in cell adhesion and signaling. We identified biallelic variants in the gene coding for...
5.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
6.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq
. 2024 Jun;
PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
7.
Yeung F, Smith J, Mendoza-Londono R, OConnor C, Howard A, Sorbara J, et al.
Child Abuse Negl
. 2024 May;
153:106828.
PMID: 38749147
Background: There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the...
8.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
9.
Oh R, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki K, et al.
HGG Adv
. 2024 Apr;
5(3):100299.
PMID: 38659227
Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology...
10.
Wener E, McLennan J, Papsin B, Cushing S, Stavropoulos D, Mendoza-Londono R, et al.
Laryngoscope
. 2024 Mar;
134(8):3832-3838.
PMID: 38426810
Objective: The objective of this study was to assess the prevalence of genetic variants associated with hearing loss in a large cohort of children in Canada using high throughput next...