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Page 1
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Among authors: segel r. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 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.
Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Zeharia A, et al. Among authors: segel r. Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. Am J Hum Genet. 2009. PMID: 19732863 Free PMC article.
A safety trial of high dose glyceryl triacetate for Canavan disease.
Segel R, Anikster Y, Zevin S, Steinberg A, Gahl WA, Fisher D, Staretz-Chacham O, Zimran A, Altarescu G. Segel R, et al. Mol Genet Metab. 2011 Jul;103(3):203-6. doi: 10.1016/j.ymgme.2011.03.012. Epub 2011 Mar 15. Mol Genet Metab. 2011. PMID: 21474353 Clinical Trial.
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
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.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: segel r. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: segel r. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, Lev D, Shmueli D, Blumkin L, Lahad A, King MC, Levy EL, Segel R. Yechieli M, et al. Among authors: segel r. J Med Genet. 2022 Aug;59(8):759-767. doi: 10.1136/jmedgenet-2021-107884. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321325
95 results