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Most cited papers from Pronto Diagnostics (Israel)

What are the most cited papers from Pronto Diagnostics (Israel)?

The most cited paper from Pronto Diagnostics (Israel) is "Guidelines for the genetic diagnosis of hereditary recurrent fevers" (Yael Shinar et al., 2012), with 200 citations. Next come "A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome" (62) and "De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders" (50).

Showing 5 of 5 papers. Every paper is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Guidelines for the genetic diagnosis of hereditary recurrent fevers Yael Shinar et al. · Annals of the Rheumatic Diseases Open access 2 Jun 2012 200
2 A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome Lubov Blumkin, Sara Kivity, Dorit Lev et al. · Journal of Neurology 26 May 2012 62
3 De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders Marija Dulovic‐Mahlow et al. · The American Journal of Human Genetics Open access 20 Jun 2019 50
4 Pronto® ThromboRisk™—A novel primer‐extension ELISA based assay for the detection of mutations associated with increased risk for thrombophilia Noga Carmi, Dana Cohen, Eti Zvang et al. · Journal of Clinical Laboratory Analysis Open access 2004 5
5 Response to Choi et al. regarding the use of a Gaucher diagnostic kit Nir Navot, Aline Yakir, Amir Tchelet · Molecular Genetics and Metabolism 2 Mar 2010 0

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.