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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Recent Articles
11.
Otero M, Kim J, Kushwaha Y, Rajewski A, Nonis F, Santiskulvong C, et al.
bioRxiv
. 2024 Feb;
PMID: 38352418
Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. encodes a resident-ER protein involved in trafficking lysosomal proteins...
12.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie M, Price E, et al.
Genet Med
. 2023 Nov;
26(2):101012.
PMID: 37924259
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. Methods: We prospectively enrolled 297 probands who met eligibility criteria...
13.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
HGG Adv
. 2023 Sep;
4(4):100236.
PMID: 37660254
Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
14.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
medRxiv
. 2023 Jul;
PMID: 37503210
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...
15.
Ungar W, Hayeems R, Marshall C, Gillespie M, Szuto A, Chisholm C, et al.
Clin Ther
. 2023 Jul;
45(8):702-709.
PMID: 37453830
Purpose: Although costly, genome-wide sequencing (GWS) detects an extensive range of variants, enhancing our ability to diagnose and assess risk for an increasing number of diseases. In addition to detecting...
16.
Guo L, Salian S, Xue J, Rath N, Rousseau J, Kim H, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1068-1085.
PMID: 37352860
ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a...
17.
Priestley J, Deshwar A, Murthy H, DAgostino M, Dupuis L, Gangaram B, et al.
Genet Med
. 2023 May;
25(8):100863.
PMID: 37125634
Purpose: Bone morphogenic proteins (BMPs) regulate gene expression that is related to many critical developmental processes, including osteogenesis for which they are named. In addition, BMP2 is widely expressed in...
18.
Deshwar A, Yuki K, Hou H, Liang Y, Khan T, Celik A, et al.
Am J Hum Genet
. 2023 Mar;
110(5):895-900.
PMID: 36990084
Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders. Although GS can enumerate most non-coding variation, determining which non-coding variants are disease-causing is challenging. RNA...
19.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
medRxiv
. 2023 Feb;
PMID: 36778397
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by and , respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
20.
Bourkas A, Pope E, Mendoza-Londono R, Kamath B, Lara-Corrales I
Pediatr Dermatol
. 2023 Jan;
40(4):710-712.
PMID: 36655593
Congenital ichthyosis is a genodermatosis characterized by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant comorbidities and associated mortality, with...