Joseph Ekstein
Overview
Explore the profile of Joseph Ekstein including associated specialties, affiliations and a list of published articles.
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9
Citations
116
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0
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Recent Articles
1.
Kitamura R, Maxwell K, Ye W, Kries K, Brown C, Augsornworawat P, et al.
JCI Insight
. 2022 Sep;
7(18).
PMID: 36134655
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Recent genetic and...
2.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
3.
Rabin R, Hirsch Y, Johansson M, Ekstein J, Ekstein A, Pappas J
Am J Med Genet A
. 2021 Mar;
185(5):1589-1597.
PMID: 33682303
THG1L-associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification. The product of THG1L is the tRNA-histidine guanylyltransferase 1-like enzyme that catalyzes...
4.
Lyon G, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, et al.
Cold Spring Harb Mol Case Stud
. 2019 Aug;
5(6).
PMID: 31387860
Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis...
5.
Rabin R, Hirsch Y, Johansson M, Ekstein J, Zeevi D, Keena B, et al.
Am J Med Genet A
. 2019 Jul;
179(10):2144-2151.
PMID: 31287223
Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and sensorineural...
6.
Tanaka A, Okumoto K, Tamura S, Abe Y, Hirsch Y, Deng L, et al.
Cold Spring Harb Mol Case Stud
. 2018 Nov;
5(1).
PMID: 30446579
Using clinical exome sequencing (ES), we identified an autosomal recessive missense variant, c.153C>A (p.F51L), in the peroxisome biogenesis factor 26 gene () in a 19-yr-old female of Ashkenazi Jewish descent...
7.
Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon G, Shanske A, et al.
Am J Hum Genet
. 2009 Dec;
86(1):93-7.
PMID: 20036350
Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal...
8.
Mor R, Kushnir I, Meyer J, Ekstein J, Ben-Dov I
Respir Care
. 2007 Nov;
52(12):1753-60.
PMID: 18028567
Objective: To determine whether breath sound distribution maps can differentiate between patients with pneumonia or pleural effusion versus healthy controls. Methods: We recorded breath sounds from 20 patients conventionally diagnosed...
9.
Bach G, Webb M, Bargal R, Zeigler M, Ekstein J
Hum Mutat
. 2005 Nov;
26(6):591.
PMID: 16287144
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population...