Matthew G Sampson
Overview
Explore the profile of Matthew G Sampson including associated specialties, affiliations and a list of published articles.
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82
Citations
3368
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Recent Articles
1.
Gupta A, Jayasinghe K, Majmundar A, Mann N, Sinha R, Sampson M, et al.
Pediatr Nephrol
. 2025 Feb;
PMID: 40019555
Kidney genetic services are being created worldwide, revolutionising the way in which we manage families with suspected monogenic kidney disease. There is potential to learn from one another, whether one...
2.
Gupta A, Jayasinghe K, Majmundar A, Mann N, Sinha R, Sampson M, et al.
Pediatr Nephrol
. 2025 Feb;
PMID: 39945861
Genetic and genomic testing has transformed the practice of clinical nephrology. Yet nephrologists have identified genetic literacy and access to kidney genetic care models as critical barriers to utilising this...
3.
Simeone C, McNulty M, Gupta Y, Genovese G, Sampson M, Sanna-Cherchi S, et al.
G3 (Bethesda)
. 2024 Dec;
15(2).
PMID: 39658338
Black Americans are 3-4 times more likely to develop nondiabetic kidney disease than other populations. Exclusively found in people of recent African (AFR) ancestry, risk variants in Apolipoprotein L1 (APOL1)...
4.
French C, Andrews N, Beggs A, Boone P, Brownstein C, Chopra M, et al.
NPJ Genom Med
. 2024 Dec;
9(1):60.
PMID: 39622807
Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital...
5.
Stark Z, Byrne A, Sampson M, Lennon R, Mallett A
Nat Rev Nephrol
. 2024 Oct;
21(2):115-126.
PMID: 39443743
The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although...
6.
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.
7.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, et al.
medRxiv
. 2024 Apr;
PMID: 38562757
In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in ,...
8.
Duan J, Wen P, Zhao Y, van de Leemput J, Lai Yee J, Fermin D, et al.
bioRxiv
. 2024 Apr;
PMID: 38559272
Alport syndrome is a hereditary chronic kidney disease, attributed to rare pathogenic variants in either of three collagen genes () with most localized in . Trimeric type IV Collagen α3α4α5...
9.
Gbadegesin R, Martinelli E, Gupta Y, Friedman D, Sampson M, Pollak M, et al.
Glomerular Dis
. 2024 Mar;
4(1):43-48.
PMID: 38495868
No abstract available.
10.
Modi Z, Zhai Y, Yee J, Desmond H, Hao W, Sampson M, et al.
Pediatr Nephrol
. 2024 Jan;
39(9):2555-2568.
PMID: 38233720
Primary glomerular diseases are rare entities. This has hampered efforts to better understand the underlying pathobiology and to develop novel safe and effective therapies. NEPTUNE is a rare disease network...