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Christopher Gray

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Articles 43
Citations 800
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Recent Articles
1.
Iwata-Otsubo A, Rippert A, Balciuniene J, Fiordaliso S, Chen R, Markose P, et al.
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004465
KBG syndrome is a multisystem developmental disorder characterized by macrodontia of the upper permanent incisors, distinctive facial features, a short stature, developmental delay, variable intellectual disability, and behavioral issues. Heterozygous...
2.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun . 2025 Feb; 16(1):1703. PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
3.
Hamilton E, Puschner B, Olivier N, Gray C, OConnor A
J Vet Med Educ . 2024 Nov; 51(3):283-291. PMID: 39500504
The COVID-19 pandemic challenged critical services to maintain operations while facing a highly transmissible human pathogen. As public health officials worked to manage the crisis, initial guidelines focused on the...
4.
Muraresku C, McCormick E, Rockart L, Crowley T, Asher S, Back A, et al.
Genes (Basel) . 2024 Jul; 15(7). PMID: 39062646
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the...
5.
Sisroe T, Santos A, Rippert A, Gray C, Skraban C, Nelson B, et al.
Am J Med Genet A . 2024 Jul; 194(12):e63816. PMID: 39007708
RFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures....
6.
Mwandira W, Mavroulidou M, Timmermans M, Gunn M, Gray C, Pantoja-Munoz L, et al.
Environ Sci Pollut Res Int . 2024 Jul; 31(33):45818-45833. PMID: 38976195
We study the carbonic anhydrase (CA) pathway using autochthonous CA-producing bacteria as a means of inducing calcite precipitation, which acts as a biocement to improve the engineering soil properties. Forty...
7.
Deb W, Rosenfelt C, Vignard V, Papendorf J, Moller S, Wendlandt M, et al.
Am J Hum Genet . 2024 Jun; 111(7):1352-1369. PMID: 38866022
Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are...
8.
Harvey I, Chilewski S, Bhosale D, Tobia S, Gray C, Gleason C, et al.
Anal Chem . 2024 Apr; 96(16):6275-6281. PMID: 38600735
Concentration determination is a fundamental hallmark of protein reagent characterization, providing a means to ensure reproducibility and unify measurements from various assays. However, lot-to-lot differences in protein activity often still...
9.
Iwata-Otsubo A, Skraban C, Yoshimura A, Sakata T, Alves C, Fiordaliso S, et al.
Hum Genet . 2024 Mar; 143(3):437-453. PMID: 38520561
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate...
10.
Lo E, Blair J, Yamamoto N, Diaz-Miranda M, Bedoukian E, Gray C, et al.
Am J Med Genet A . 2024 Jan; 194(5):e63530. PMID: 38197511
MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants...