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Page 1
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H. Marom D, et al. Among authors: segel r. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Michaelson-Cohen R, Salzer LS, Brabbing-Goldstein D, Yaron Y, Reches A, Yonath H, Regev M, Shani H, Altarescu G, Segel R, Sukenik-Halevy R, Daum H, Harel T, Meiner V, Basel-Salmon L, Sagi-Dain L, Maya I. Michaelson-Cohen R, et al. Among authors: segel r. Prenat Diagn. 2024 Apr;44(4):511-518. doi: 10.1002/pd.6535. Epub 2024 Feb 14. Prenat Diagn. 2024. PMID: 38353311
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: segel r. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
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. PMID: 37745357 Free PMC article. Preprint.
Angular Correlations in the β Decay of ^{8}B: First Tensor-Current Limits from a Mirror-Nucleus Pair.
Gallant AT, Scielzo ND, Savard G, Clark JA, Brodeur M, Buchinger F, Burdette DP, Burkey MT, Caldwell S, Crawford JE, Czeszumska A, Deibel CM, Greene J, Heslop D, Hirsh TY, Levand AF, Longfellow B, Morgan GE, Mueller P, Orford R, Padgett S, Paul N, Galván AP, Reimer A, Segel R, Sharma KS, Siegl K, Varriano L, Zabransky BJ. Gallant AT, et al. Among authors: segel r. Phys Rev Lett. 2023 May 12;130(19):192502. doi: 10.1103/PhysRevLett.130.192502. Phys Rev Lett. 2023. PMID: 37243659
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
Freund T, Baxter SK, Walsh T, Golan H, Kapelushnik J, Abramsohn-Goldenberg M, Benor S, Sarid N, Ram R, Alcalay Y, Segel R, Renbaum P, Stepensky P, King MC, Torgerson TR, Hagin D. Freund T, et al. Among authors: segel r. J Clin Immunol. 2023 Jan;43(1):151-164. doi: 10.1007/s10875-022-01358-7. Epub 2022 Sep 5. J Clin Immunol. 2023. PMID: 36063261
Improved Limit on Tensor Currents in the Weak Interaction from ^{8}Li β Decay.
Burkey MT, Savard G, Gallant AT, Scielzo ND, Clark JA, Hirsh TY, Varriano L, Sargsyan GH, Launey KD, Brodeur M, Burdette DP, Heckmaier E, Joerres K, Klimes JW, Kolos K, Laminack A, Leach KG, Levand AF, Longfellow B, Maaß B, Marley ST, Morgan GE, Mueller P, Orford R, Padgett SW, Pérez Galván A, Pierce JR, Ray D, Segel R, Siegl K, Sharma KS, Wang BS. Burkey MT, et al. Among authors: segel r. Phys Rev Lett. 2022 May 20;128(20):202502. doi: 10.1103/PhysRevLett.128.202502. Phys Rev Lett. 2022. PMID: 35657880
94 results