John A Phillips 3rd
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Explore the profile of John A Phillips 3rd including associated specialties, affiliations and a list of published articles.
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111
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3898
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Recent Articles
1.
Furuta Y, Tinker R, Dahlhauser R, Phillips 3rd J
Cureus
. 2025 Mar;
17(2):e78706.
PMID: 40062121
A nine-month-old male was referred with short stature, tortuosity in multiple arteries, pulmonary stenosis, and multiple fractures. Trio exome sequencing (ES) revealed a c.275_277delinsTT, p.(C92Ffs maternal variant c.1759G>T, p.(G587) paternal...
2.
Furuta Y, Tinker R, Hamid R, Cogan J, Ezell K, Oglesbee D, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):427.
PMID: 39543639
Background: The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS)....
3.
Furuta Y, Phillips 3rd J
Cureus
. 2024 Oct;
16(9):e70175.
PMID: 39463617
Evaluation of a single episode of exercise-induced myalgia, dark urine, and elevated creatine phosphokinase (CPK) levels relies primarily on clinical history and physical examinations. However, recurrent episodes necessitate further investigations...
4.
Geiger H, Furuta Y, van Wyk S, Phillips 3rd J, Tinker R
Genes (Basel)
. 2024 Oct;
15(10).
PMID: 39457364
Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of genetic diseases...
5.
Ezell K, Furuta Y, Oglesbee D, Pivnick E, Rinker D, Sheehan J, et al.
Mol Genet Metab Rep
. 2024 Oct;
41:101145.
PMID: 39435313
Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the gene. Most CDGs have an autosomal recessive (AR) mode of inheritance,...
6.
Borja N, Tinker R, Bivona S, Smith C, Locker T, Fernandes S, et al.
Am J Med Genet A
. 2024 Oct;
197(2):e63904.
PMID: 39400494
Rare diseases affect 6%-8% of the population and present diagnostic challenges, particularly for historically marginalized ethnic and racial groups. The Undiagnosed Diseases Network (UDN) aims to enhance diagnosis rates and...
7.
Gimeno A, Tinker R, Furuta Y, Phillips 3rd J
Am J Med Genet A
. 2024 Sep;
197(2):e63888.
PMID: 39333051
Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post-exome-sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of...
8.
Brakta S, Du Q, Chorich L, Hawkins Z, Sullivan M, Ko E, et al.
Mol Cell Endocrinol
. 2024 Apr;
589:112237.
PMID: 38599276
The molecular basis of mullerian aplasia, also known as Mayer-Rokitansky-Kuster Hauser (MRKH) or congenital absence of the uterus and vagina, is largely unknown. We applied a multifaceted genetic approach to...
9.
Jones A, Aquilino M, Tinker R, Duncan L, Jenkins Z, Carvill G, et al.
Am J Hum Genet
. 2024 Apr;
111(4):729-741.
PMID: 38579670
Glutamine synthetase (GS), encoded by GLUL, catalyzes the conversion of glutamate to glutamine. GS is pivotal for the generation of the neurotransmitters glutamate and gamma-aminobutyric acid and is the primary...
10.
Ezell K, Tinker R, Furuta Y, Gulsevin A, Bastarache L, Hamid R, et al.
Am J Med Genet A
. 2024 Mar;
194(7):e63597.
PMID: 38511854
The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12...