Olaf Bodamer
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Explore the profile of Olaf Bodamer including associated specialties, affiliations and a list of published articles.
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68
Citations
1528
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Recent Articles
1.
Baldovino S, Sciascia S, Carta C, Salvatore M, Cellai L, Ferrari G, et al.
Front Public Health
. 2025 Mar;
13:1510818.
PMID: 40078755
Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although...
2.
van Gool R, Al-Hertani W, Bodamer O, Upadhyay J
Trends Pharmacol Sci
. 2025 Mar;
PMID: 40055076
No abstract available.
3.
Pandey R, Brennan N, Trachana K, Katsandres S, Bodamer O, Belmont J, et al.
Genet Med
. 2025 Mar;
:101398.
PMID: 40022598
Purpose: To systematically evaluate the diagnostic yield and clinical utility of genome and exome sequencing (GS and ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases....
4.
Mertens M, Khalife L, Ma X, Bodamer O
Expert Opin Drug Discov
. 2025 Jan;
20(2):253-265.
PMID: 39862154
Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the and genes....
5.
Delgado-Vega A, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, et al.
Nat Genet
. 2024 Oct;
56(11):2287-2294.
PMID: 39433890
No abstract available.
6.
Potter S, Zhang L, Kotliar M, Wu Y, Schafer C, Stefan K, et al.
Front Immunol
. 2024 May;
15:1341745.
PMID: 38765012
Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following...
7.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai L, Ferrari G, et al.
Front Public Health
. 2023 Oct;
11:1248260.
PMID: 37822540
Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different...
8.
Wu C, Caha M, Smoot L, Harris D, Roberts A, Sacharow S, et al.
Mol Genet Metab
. 2023 Jun;
139(3):107626.
PMID: 37354892
Sengers syndrome (OMIM# 212350) is a rare autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the AGK gene, which encodes the acylglycerol kinase enzyme. The syndrome was originally...
9.
Jung Y, Hung C, Choi J, Lee E, Bodamer O
Hum Mol Genet
. 2023 Apr;
32(13):2251-2261.
PMID: 37043208
Kabuki syndrome (KS) is a rare, multisystem disorder with a variable clinical phenotype. The majority of KS is caused by dominant loss-of-function mutations in KMT2D (lysine methyltransferase 2D). KMT2D mediates...
10.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai L, Ferrari G, et al.
Front Public Health
. 2023 Mar;
11:1079601.
PMID: 36935719
Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging...