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Year Number of Results
2014 1
2015 1
2016 2
2017 1
2018 3
2019 4
2020 1
2021 2
2022 6
2023 2
2024 1

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19 results

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Page 1
ESR1 mutant breast cancers show elevated basal cytokeratins and immune activation.
Li Z, McGinn O, Wu Y, Bahreini A, Priedigkeit NM, Ding K, Onkar S, Lampenfeld C, Sartorius CA, Miller L, Rosenzweig M, Cohen O, Wagle N, Richer JK, Muller WJ, Buluwela L, Ali S, Bruno TC, Vignali DAA, Fang Y, Zhu L, Tseng GC, Gertz J, Atkinson JM, Lee AV, Oesterreich S. Li Z, et al. Among authors: bahreini a. Nat Commun. 2022 Apr 19;13(1):2011. doi: 10.1038/s41467-022-29498-9. Nat Commun. 2022. PMID: 35440136 Free PMC article.
Hotspot ESR1 Mutations Are Multimodal and Contextual Modulators of Breast Cancer Metastasis.
Li Z, Wu Y, Yates ME, Tasdemir N, Bahreini A, Chen J, Levine KM, Priedigkeit NM, Nasrazadani A, Ali S, Buluwela L, Arnesen S, Gertz J, Richer JK, Troness B, El-Ashry D, Zhang Q, Gerratana L, Zhang Y, Cristofanilli M, Montanez MA, Sundd P, Wallace CT, Watkins SC, Fumagalli C, Guerini-Rocco E, Zhu L, Tseng GC, Wagle N, Carroll JS, Jank P, Denkert C, Karsten MM, Blohmer JU, Park BH, Lucas PC, Atkinson JM, Lee AV, Oesterreich S. Li Z, et al. Among authors: bahreini a. Cancer Res. 2022 Apr 1;82(7):1321-1339. doi: 10.1158/0008-5472.CAN-21-2576. Cancer Res. 2022. PMID: 35078818 Free PMC article.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Among authors: bahreini a. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, Ng BG, Noroozi Asl S, Akhondian J, Bahreini A, Yaghini O, Uapinyoying P, Bonnemann C, Freeze HH, Dissanayake VHW, Sirisena ND, Schmidts M, Houlden H, Moreno-De-Luca A, Maroofian R. Nagy S, et al. Among authors: bahreini a. Clin Genet. 2022 Dec;102(6):530-536. doi: 10.1111/cge.14208. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35932216 Free PMC article.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Kerby C Oberg, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: bahreini a. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. PMID: 38405817 Free PMC article. Preprint.
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG, Gyanchandani R, Shah OS, Gurda GT, Lucas PC, Hartmaier RJ, Brufsky AM, Puhalla S, Bahreini A, Kota K, Wald AI, Nikiforov YE, Nikiforova MN, Oesterreich S, Lee AV. Smith NG, et al. Among authors: bahreini a. Breast Cancer Res. 2019 Feb 8;21(1):22. doi: 10.1186/s13058-019-1102-7. Breast Cancer Res. 2019. PMID: 30736836 Free PMC article.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Among authors: bahreini a. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
Frequent ESR1 and CDK Pathway Copy-Number Alterations in Metastatic Breast Cancer.
Basudan A, Priedigkeit N, Hartmaier RJ, Sokol ES, Bahreini A, Watters RJ, Boisen MM, Bhargava R, Weiss KR, Karsten MM, Denkert C, Blohmer JU, Leone JP, Hamilton RL, Brufsky AM, Elishaev E, Lucas PC, Lee AV, Oesterreich S. Basudan A, et al. Among authors: bahreini a. Mol Cancer Res. 2019 Feb;17(2):457-468. doi: 10.1158/1541-7786.MCR-18-0946. Epub 2018 Oct 24. Mol Cancer Res. 2019. PMID: 30355675 Free PMC article.
19 results