Benjamin Darbro
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Explore the profile of Benjamin Darbro including associated specialties, affiliations and a list of published articles.
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20
Citations
223
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Recent Articles
1.
Petrin A, Machado-Paula L, Hinkle A, Hovey L, Awotoye W, Chimenti M, et al.
Cleft Palate Craniofac J
. 2025 Jan;
:10556656241306202.
PMID: 39819101
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings...
2.
Pietan L, Phillippi E, Melo M, El-Shanti H, Smith B, Darbro B, et al.
medRxiv
. 2024 Dec;
PMID: 39677430
The COVID-19 pandemic has caused substantial worldwide disruptions in health, economy, and society, manifesting symptoms such as loss of smell (anosmia) and loss of taste (ageusia), that can result in...
3.
Awotoye W, Machado-Paula L, Hovey L, Keen H, Chimenti M, Darbro B, et al.
medRxiv
. 2024 Nov;
PMID: 39606391
Background: Disturbances in the intricate processes that control craniofacial morphogenesis can result in birth defects, most common of which are orofacial clefts (OFCs). Nonsyndromic cleft lip (nsCL), one of the...
4.
Vaughn H, Major H, Kadera E, Keck K, Dunham T, Qian Q, et al.
Int J Mol Sci
. 2024 Jul;
25(14).
PMID: 39062773
Functional copy-number alterations (fCNAs) are DNA copy-number changes with concordant differential gene expression. These are less likely to be bystander genetic lesions and could serve as robust and reproducible tumor...
5.
Pietan L, Vaughn H, Howe J, Bellizzi A, Smith B, Darbro B, et al.
Int J Mol Sci
. 2023 Dec;
24(24).
PMID: 38139230
Determining neuroendocrine tumor (NET) primary sites is pivotal for patient care as pancreatic NETs (pNETs) and small bowel NETs (sbNETs) have distinct treatment approaches. The diagnostic power and prioritization of...
6.
Bayanbold K, Younger G, Darbro B, Sidhu A
Case Rep Genet
. 2023 Nov;
2023:1692422.
PMID: 37946714
Bromodomain and PHD finger containing 1 ()-related neurodevelopmental disorder is characterized by intellectual disability, developmental delay, hypotonia, dysmorphic facial features, ptosis, and blepharophimosis. Both and inherited pathogenic variants have been...
7.
Tung M, Chandra B, Kotlarek J, Melo M, Phillippi E, Justice C, et al.
Genes (Basel)
. 2022 Sep;
13(9).
PMID: 36140816
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3...
8.
Brockman Q, Scherer A, McGivney G, Gutierrez W, Voigt A, Isaacson A, et al.
JCI Insight
. 2022 Sep;
7(20).
PMID: 36066973
The histone methyltransferase PRC2 plays a complex role in cancer. Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas with frequent loss-of-function mutations in PRC2 that are associated with poor...
9.
Dawes K, Philibert W, Darbro B, Simons R, Philibert R
Genes (Basel)
. 2022 Apr;
13(4).
PMID: 35456489
Type 2 diabetes mellitus (T2D) has a complex genetic and environmental architecture that underlies its development and clinical presentation. Despite the identification of well over a hundred genetic variants and...
10.
Beaudry S, Shchelochkov O, Trapane P, Darbro B, Nagy J
Clin Case Rep
. 2021 May;
9(4):2340-2344.
PMID: 33936691
Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify...