David B Goldstein
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Explore the profile of David B Goldstein including associated specialties, affiliations and a list of published articles.
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335
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Recent Articles
1.
Sampaio G, Ismaili T, Torkamani A, Breckenridge D, Katana A, Goldstein D, et al.
Hum Mol Genet
. 2025 Feb;
PMID: 39964066
Pathogenic mutations in the Transient Receptor Potential Vanilloid 4 (TRPV4) gene cause two classes of rare autosomal dominant disorders: peripheral neuropathies and skeletal dysplasias. Although most TRPV4 pathogenic mutations increase...
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.
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.
4.
Marques P, Moloney P, Ji C, Ali Q, Ramesh A, Goldstein D, et al.
Epilepsy Res
. 2024 Aug;
206:107425.
PMID: 39168079
Objective: We retrospectively explored patients with drug-resistant epilepsy (DRE) who previously underwent presurgical evaluation to identify correlations between surgical outcomes and pathogenic variants in epilepsy genes. Methods: Through an international...
5.
Pottinger T, Motelow J, Povysil G, Moreno C, Ren Z, Phatnani H, et al.
BMC Genomics
. 2024 Jul;
25(1):651.
PMID: 38951798
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening...
6.
Wattacheril J, Kleinstein S, Shea P, Wilson L, Subramanian G, Myers R, et al.
medRxiv
. 2024 Mar;
PMID: 38496563
Background And Aims: Nonalcoholic Fatty Liver Disease (NAFLD) is a complex human disease. Common genetic variation in the patatin-like phospholipase domain containing 3 () and transmembrane 6 superfamily member 2...
7.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
medRxiv
. 2024 Jan;
PMID: 38260255
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 gene...
8.
Pottinger T, Motelow J, Povysil G, Moreno C, Ren Z, Phatnani H, et al.
Res Sq
. 2024 Jan;
PMID: 38196621
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads...
9.
Kong X, Bogyo K, Kapoor S, Shea P, Groopman E, Thomas-Wilson A, et al.
Sci Rep
. 2023 Dec;
13(1):21540.
PMID: 38057357
Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed...
10.
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...