Naama Orenstein
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Explore the profile of Naama Orenstein including associated specialties, affiliations and a list of published articles.
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46
Citations
411
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Recent Articles
1.
Assia Batzir N, Orenstein N, Yaron Y, Kuzminsky A, Nevo Y, Konen O, et al.
J Neuromuscul Dis
. 2025 Feb;
:22143602241301658.
PMID: 39973406
encodes a calcium-activated skeletal muscle-specific protease. Pathogenic variants in are associated with autosomal recessive and dominant limb-girdle muscular dystrophy. We report on three children and one adult from four unrelated...
2.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Levy M, Lidzbarsky G, Batzir N, et al.
Genet Med Open
. 2024 Dec;
1(1):100813.
PMID: 39669250
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberately...
3.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger J, Audo I, et al.
Nat Commun
. 2024 Nov;
15(1):10096.
PMID: 39572588
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism....
4.
Brabbing-Goldstein D, Bazak L, Ruhrman-Shahar N, Lidzbarsky G, Orenstein N, Lifshiz-Kalis M, et al.
Prenat Diagn
. 2024 Sep;
44(12):1423-1434.
PMID: 39237446
Objective: To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants of unknown significance (VUS) if they were detected...
5.
Werren E, Peirent E, Jantti H, Guxholli A, Srivastava K, Orenstein N, et al.
Cell Death Dis
. 2024 May;
15(5):379.
PMID: 38816421
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central...
6.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
7.
Abu Shtaya A, Orenstein N, Bazak L, Lidzbarsky G, Kalis M, Amarilyo G, et al.
Pediatr Res
. 2024 May;
97(1):268-272.
PMID: 38734812
Background: Biological similarities between inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) have been described in humans and animal models suggesting a possible common genetic basis. FMF is caused...
8.
Riedhammer K, Nguyen T, Kosukcu C, Calzada-Wack J, Li Y, Assia Batzir N, et al.
Kidney Int
. 2023 Dec;
105(4):844-864.
PMID: 38154558
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive...
9.
Lehtokari V, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, et al.
Neuromuscul Disord
. 2023 Dec;
34:32-40.
PMID: 38142473
We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic...
10.
Steinberg-Shemer O, Yacobovich J, Noy-Lotan S, Dgany O, Krasnov T, Barg A, et al.
Br J Haematol
. 2023 Nov;
204(3):1067-1071.
PMID: 37984840
Biallelic pathogenic variants in CAD, that encode the multienzymatic protein required for de-novo pyrimidine biosynthesis, cause early infantile epileptic encephalopathy-50. This rare disease, characterized by developmental delay, intractable seizures and...