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Page 1
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E. Aran A, et al. Among authors: segel r. Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29. Neurology. 2016. PMID: 27164683 Free PMC article.
Clinical actionability of genetic findings in cerebral palsy.
Lewis SA, Chopra M, Cohen JS, Bain J, Aravamuthan B, Carmel JB, Fahey MC, Segel R, Wintle RF, Zech M, May H, Haque N, Fehlings D, Srivastava S, Kruer MC. Lewis SA, et al. Among authors: segel r. medRxiv [Preprint]. 2023 Sep 11:2023.09.08.23295195. doi: 10.1101/2023.09.08.23295195. medRxiv. 2023. Update in: JAMA Pediatr. 2024 Dec 2. doi: 10.1001/jamapediatrics.2024.5059 PMID: 37745357 Free PMC article. Updated. Preprint.
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y. Belostotsky R, et al. Among authors: segel r. Am J Hum Genet. 2011 Feb 11;88(2):193-200. doi: 10.1016/j.ajhg.2010.12.010. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255763 Free PMC article.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Navon Elkan P, et al. Among authors: segel r. N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552285 Free article.
Mutant ADA2 in vasculopathies.
Segel R, King MC, Levy-Lahad E. Segel R, et al. N Engl J Med. 2014 Jul 31;371(5):481. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25083540 No abstract available.
Copy number variations in cryptogenic cerebral palsy.
Segel R, Ben-Pazi H, Zeligson S, Fatal-Valevski A, Aran A, Gross-Tsur V, Schneebaum-Sender N, Shmueli D, Lev D, Perlberg S, Blumkin L, Deutsch L, Levy-Lahad E. Segel R, et al. Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817843
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. Jaron R, et al. Among authors: segel r. Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2. Clin Genet. 2016. PMID: 26925547
95 results