Benjamin W Darbro
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Explore the profile of Benjamin W Darbro including associated specialties, affiliations and a list of published articles.
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61
Citations
887
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Recent Articles
1.
Pinnaro C, Zimmerman B, Ryckman K, Darbro B, Norris A
Horm Res Paediatr
. 2024 Nov;
:1-9.
PMID: 39557026
Introduction: The cause of increased diabetes mellitus (DM) risk in individuals with Turner syndrome (TS) is poorly understood. Parent-of-origin effects related to whether the maternal or paternal X chromosome (Xchr)...
2.
Rojas Chavez R, Fili M, Han C, Rahman S, Bicar I, Gregory S, et al.
PLoS Comput Biol
. 2024 Jun;
20(6):e1012215.
PMID: 38857308
New sublineages of SARS-CoV-2 variants-of-concern (VOCs) continuously emerge with mutations in the spike glycoprotein. In most cases, the sublineage-defining mutations vary between the VOCs. It is unclear whether these differences...
3.
Mohar N, Cox E, Adelizzi E, Moore S, Mathews K, Darbro B, et al.
Int J Mol Sci
. 2024 May;
25(9).
PMID: 38732148
Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable...
4.
Kohlmeyer J, Lingo J, Kaemmer C, Scherer A, Warrier A, Voigt E, et al.
Clin Cancer Res
. 2023 Jul;
29(17):3484-3497.
PMID: 37410426
Purpose: Malignant peripheral nerve sheath tumors (MPNST) are lethal, Ras-driven sarcomas that lack effective therapies. We investigated effects of targeting cyclin-dependent kinases 4 and 6 (CDK4/6), MEK, and/or programmed death-ligand...
5.
Pinnaro C, Beck C, Major H, Darbro B
Hum Genet
. 2023 Mar;
142(4):523-530.
PMID: 36929416
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the second sex chromosome and exhibits phenotypic heterogeneity, even after accounting for mosaicism and karyotypic variation....
6.
Lansdon L, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, et al.
Am J Hum Genet
. 2022 Dec;
110(1):71-91.
PMID: 36493769
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to...
7.
Wetzel A, Darbro B
BMC Genom Data
. 2022 Nov;
23(1):82.
PMID: 36435749
Objective: The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. While the common...
8.
Waldrop M, Moore S, Mathews K, Darbro B, Medne L, Finkel R, et al.
Hum Mutat
. 2022 Feb;
43(4):511-528.
PMID: 35165973
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are...
9.
Green T, Motelow J, Bennett M, Ye Z, Bennett C, Griffin N, et al.
Hum Mol Genet
. 2022 Feb;
31(14):2307-2316.
PMID: 35137044
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue....
10.
Krasowski M, Dolezal A, Steussy B, Gailey M, Darbro B
Data Brief
. 2021 Dec;
39:107578.
PMID: 34877371
Paraneoplastic syndromes are rare conditions associated with characteristic autoantibodies produced by malignancy, although similar autoantibodies and clinical presentations may occur in the absence of any neoplasm. Testing for paraneoplastic syndromes...