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Jeremiah Martino

Explore the profile of Jeremiah Martino including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 377
Followers 0
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Recent Articles
1.
Wooden B, Beenken A, Martinelli E, Saida K, Knob A, Ke J, et al.
J Am Soc Nephrol . 2024 Oct; 36(2):274-289. PMID: 39352759
No abstract available.
2.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science . 2024 May; 384(6695):584-590. PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
3.
Gupta Y, Friedman D, McNulty M, Khan A, Lane B, Wang C, et al.
Nat Commun . 2023 Nov; 14(1):7836. PMID: 38036523
African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene...
4.
Martino J, Liu Q, Vukojevic K, Ke J, Lim T, Khan A, et al.
Genet Med . 2023 Sep; 25(12):100983. PMID: 37746849
Purpose: Previous work identified rare variants in DSTYK associated with human congenital anomalies of the kidney and urinary tract (CAKUT). Here, we present a series of mouse and human studies...
5.
Gupta Y, Friedman D, McNulty M, Khan A, Lane B, Wang C, et al.
medRxiv . 2023 Aug; PMID: 37577628
Black Americans have a significantly higher risk of developing chronic kidney disease (CKD), especially focal segmental glomerulosclerosis (FSGS), than European Americans. Two coding variants (G1 and G2) in the gene...
6.
Weng P, Majmundar A, Khan K, Lim T, Shril S, Jin G, et al.
Am J Hum Genet . 2021 Jan; 108(2):357-367. PMID: 33508234
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by...
7.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, et al.
Nat Genet . 2019 Mar; 51(4):764. PMID: 30816350
In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the...
8.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, et al.
Nat Genet . 2018 Dec; 51(1):117-127. PMID: 30578417
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases...
9.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly H, et al.
Am J Hum Genet . 2017 Dec; 101(6):1034. PMID: 29220675
No abstract available.
10.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly H, et al.
Am J Hum Genet . 2017 Nov; 101(5):789-802. PMID: 29100090
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified...