Tippi C MacKenzie
Overview
Explore the profile of Tippi C MacKenzie including associated specialties, affiliations and a list of published articles.
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Articles
77
Citations
1309
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Recent Articles
1.
Borges B, Canepa E, Chang I, Herzeg A, Lianoglou B, Kishnani P, et al.
Am J Med Genet C Semin Med Genet
. 2025 Feb;
:e32132.
PMID: 39891377
The expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by...
2.
Chu S, Soupene E, Sharma D, Sinha R, McCreary T, Hernandez B, et al.
Cell Rep
. 2025 Jan;
44(1):115141.
PMID: 39754719
The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the...
3.
Herzeg A, Borges B, Diafos L, Gupta N, MacKenzie T, Sanders S
Prenat Diagn
. 2024 Sep;
44(11):1354-1366.
PMID: 39218781
Recent advances in gene therapy, particularly for single-gene disorders (SGDs), have led to significant progress in developing innovative precision medicine approaches that hold promise for treating conditions such as primary...
4.
Swartzrock L, Dib C, Denis M, Willner H, Ho K, Haslett E, et al.
Blood Adv
. 2024 Jul;
8(17):4554-4558.
PMID: 38991119
No abstract available.
5.
Borges B, Varthaliti A, Schwab M, Clarke M, Pivetti C, Gupta N, et al.
Mol Ther Methods Clin Dev
. 2024 Jun;
32(2):101263.
PMID: 38827250
Prenatal somatic cell gene therapy (PSCGT) could potentially treat severe, early-onset genetic disorders such as spinal muscular atrophy (SMA) or muscular dystrophy. Given the approval of adeno-associated virus serotype 9...
6.
Chu S, Soupene E, Wienert B, Yin H, Sharma D, McCreary T, et al.
bioRxiv
. 2024 May;
PMID: 38766216
Alpha-thalassemia is an autosomal recessive disease with increasing worldwide prevalence. The molecular basis is due to mutation or deletion of one or more duplicated α-globin genes, and disease severity is...
7.
Clarke M, Remesal L, Lentz L, Tan D, Young D, Thapa S, et al.
Mol Ther
. 2024 Feb;
32(4):935-951.
PMID: 38327047
Angelman syndrome (AS), an early-onset neurodevelopmental disorder characterized by abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of the UBE3A gene is disrupted, since the paternal allele...
8.
Herzeg A, Borges B, Lianoglou B, Gonzalez-Velez J, Canepa E, Munar D, et al.
Prenat Diagn
. 2023 Nov;
43(13):1638-1649.
PMID: 37955580
Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those...
9.
Lowther C, Valkanas E, Giordano J, Wang H, Currall B, OKeefe K, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1454-1469.
PMID: 37595579
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have...
10.
Cohen J, Chakraborty P, Fung-Kee-Fung K, Schwab M, Bali D, Young S, et al.
N Engl J Med
. 2022 Nov;
387(23):2150-2158.
PMID: 36351280
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy...