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G

Gheona Altarescu

hebrew university of jerusalem

33H指数
205论文数
4.9K被引数
收录论文 80
发表时间
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IVF outcomes and aneuploidy rates in BRCA pathogenic variant carriers undergoing preimplantation genetic testingIVF结局及BRCA致病性变异携带者行植入前遗传学检测的染色体非整倍体率
errFertility and Sterility
IF7
err2026-09-17
err0
errOAAI
errRachel Michaelson-Cohen; Heli Alexandroni; Naama Srebnik; Dalit May; Shlomit Jessel; Noa Shuster; Gheona Altarescu; Ido Ben-Ami
err分享
err收藏
Improved cycle outcomes using the HaploSeek comprehensive PGT-A and PGT-M combined analysis in monogenic-diseaseaffected couples利用HaploSeek综合PGT-A和PGT-M联合分析改善单基因病受影响夫妇的周期结局
errReproductive Biomedicine Online
IF3.5
err2026-08-01
err0
PREAI
errYoungster, Michal; Granot, Irit; Eizenman, Einat; Sharon, Nataly; Kedem, Alon; Maman, Ettie; Renbaum, Paul; Zeevi, David A.; Altarescu, Gheona; Hochberg, Alyssa; Hourvitz, Ariel; Baum, Micha
err分享
err收藏
Phenotypic Variability of Kidney Involvement in Fabry Disease—Lessons from a Family Study法布里病肾脏受累的表型变异性——来自一项家族研究的启示
errLife
IF3.4
err2026-05-22
err0
errOAAI
errElena-Emanuela Rusu; Ruxandra-Oana Jurcut; Mihaela Gherghiceanu; Filip Muresan; Gheona Altarescu; Bogdan Stanciulescu; Robert Adam; Alexandru Procop; Cristina Stoica; Bogdan Marian Sorohan; Vlad Stefanescu; Gener Ismail
err分享
err收藏
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease
errMolecular Genetics and Metabolism
IF3.5
err2026-02-03
err0
PREAI
errKatarina Trebusak Podkrajsek; Nika Breznik; Kaja Balant Marin; Tisa Podkrajsek; Tinka Hovnik; Bojan Vujkovac; Albina Nowak; João-Paulo Oliveira; Gabriela Dostalova; Aleš Linhart; Marketa Safarikova; Gheona Altarescu; Tina Levstek
err分享
err收藏
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry diseaseSHROOM3中的一种非编码信号与法布里病肾脏疾病的进展相关
errMolecular Genetics and Metabolism
IF3.5
err2026-01-01
err0
errOAAI
errLevstek, Tina; Breznik, Nika; Marin, Kaja Balant; Podkrajsek, Tisa; Vujkovac, Bojan; Nowak, Albina; Oliveira, Joao-Paulo; Dostalova, Gabriela; Linhart, Ales; Safarikova, Marketa; Altarescu, Gheona; Podkrajsek, Katarina Trebusak
err分享
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Markedly Low Prevalence of Fatty Liver despite Obesity in Prader-Willi Syndrome: A Search for Protective Genetic MarkersPrader-Willi综合征中脂肪肝患病率显著降低，尽管存在肥胖：对保护性遗传标记物的探索
errclinical and experimental pediatrics
IF3.2
err2025-08-22
err0
PREAI
errOmer Murik; Varda Gross-Tsur; Tzvia Mann; David A. Zeevi; Saja Baraghithy; Gheona Altarescu; Joseph Tam; Harry J. Hirsch; Eyal Shteyer
err分享
err收藏
Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing利用全外显子组测序鉴定与法布里肾病进展相关的遗传变异
errMolecular Genetics and Metabolism
IF3.5
err2025-07-11
err0
PREAI
errTina Levstek; Bojan Vujkovac; Albina Nowak; João-Paulo Oliveira; Gabriela Dostálová; Aleš Linhart; Markéta Šafaříková; Gheona Altarescu; Katarina Trebušak Podkrajšek
err分享
err收藏
Cycle outcomes using Haploseek combining PGT-M and PGT-A compared to PGT-M only in patients tested for monogenic diseases使用Haploseek结合PGT-M和PGT-A的周期结局，与仅使用PGT-M在单基因疾病检测患者中的比较
errHUMAN REPRODUCTION
IF6.1
err2025-06-01
err0
errOAAI
errYoungster, M.; Sharon, N.; Granot, I; Kedem, A.; Fridman, E. Aizenman; Renbaum, P.; Zeevi, D.; Baum, M.; Altarescu, G.; Maman, E.; Hourvitz, A.
err分享
err收藏
Preimplantation genetic testing (PGT) to reduce the risk for GBArelated Parkinson disease: Expanding of applications for embryo selection
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errAltarescu, Gheona; Zimran, Ari; Zuckerman, Shachar; Revel-Vilk, Shoshana
err分享
err收藏
The new face of cystic fibrosis in the era of population genetic carrier screening
errJOURNAL OF CYSTIC FIBROSIS
IF6
err2024-07-01
err0
PREAI
errDotan, Miri; Blau, Hannah; Singer, Amihood; Stafler, Patrick; Prais, Dario; Cohen-Cymberknoh, Malena; Reiter, Joel; Efrati, Ori; Dagan, Adi; Bentur, Lea; Gur, Michal; Livnat, Galit; Yaacoby-Bianu, Karin; Aviram, Micha; Tripto, Inbal Golan; Bar-On, Ophir; Matar, Reut; Hagit, Shani; Malcov, Mira; Altarescu, Gheona; Segev, Hanna; Feldman, Baruch; Kerem, Eitan; Mei-Zahav, Meir
err分享
err收藏
Aneuploidy in Oocytes From Women of Advanced Maternal Age: Analysis of the Causal Meiotic Errors and Impact on Embryo Development
errOBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
err2024-03-01
err0
PREAI
errVerdyck, P.; Altarescu, G.; Santos-Ribeiro, S.; Vrettou, C.; Koehler, U.; Griesinger, G.; Goossens, V.; Magli, C.; Albanese, C.; Parriego, M.; Coll, L.; Ron-El, R.; Sermon, K.; Traeger-Synodinos, J.
err分享
err收藏
Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errGermain, Dominique P.; Al Murshedi, Fathiya; Al Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C.; Ezgu, Fatih; Laney, Dawn A.; Moiseev, Sergey; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Sunbul, Rawda; Steeds, Rick; Yu, Wen-Chung; West, Michael L.; Maski, Manish; Maksimova, Irina
err分享
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Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errAuray-Blais, Christiane; Lavoie, Pamela; Martineau, Tristan; Ntumba, Georges Kabala; Gamrani, Mohamed; Khan, Aneal; Altarescu, Gheona; Lehman, Anna; Goker-Alpan, Ozlem; Nowak, Albina; West, Michael L.; Bichet, Daniel G.
err分享
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Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2023-11-01
err2
errOAAI
errWerfel, Lina; Martens, Helge; Hennies, Imke; Gjerstad, Ann Christin; Froede, Kerstin; Altarescu, Gheona; Banerjee, Sushmita; Palafoll, Irene Valenzuela; Geffers, Robert; Kirschstein, Martin; Christians, Anne; Bjerre, Anna; Haffner, Dieter; Weber, Ruthild G.
err分享
err收藏
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
errSCIENTIFIC REPORTS
IF3.9
err2023-10-21
err3
errOAAI
errBackenroth, Daniel; Altarescu, Gheona; Zahdeh, Fouad; Mann, Tzvia; Murik, Omer; Renbaum, Paul; Segel, Reeval; Zeligson, Sharon; Hakam-Spector, Elinor; Carmi, Shai; Zeevi, David A.
err分享
err收藏
Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors andimpact on embryo development高龄产妇卵母细胞的非整倍性: 对胚胎发育的因果减数分裂错误和影响的分析
errHUMAN REPRODUCTION
IF6.1
err2023-10-10
err11
PREAI
errVerdyck, P.; Altarescu, G.; Santos-Ribeiro, S.; Vrettou, C.; Koehler, U.; Griesinger, G.; Goossens, V; Magli, C.; Albanese, C.; Parriego, M.; Coll, L.; Ron-El, R.; Sermon, K.; Traeger-Synodinos, J.
err分享
err收藏
Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2023-06-21
err3
errOAAI
errTolkin, Lior; Klein, Vanessa; Frankel, Meir; Altarescu, Gheona; Beeri, Rachel; Munter, Gabriel
err分享
err收藏
Whole blood transcriptomic profiling in the interpretation of variable phenotype presentation in Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errAltarescu, Gheona; Murik, Omer; Jurcut, Ruxandra; Rusu, Elena E.; Mursa, Adriana; Mann, Tzvia; Eldar-Yedidia, Yifat; Zeevi, David A.
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An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-09-01
err60
errOAAI
errGermain, Dominique P.; Altarescu, Gheona; Barriales-Villa, Roberto; Mignani, Renzo; Pawlaczyk, Krzysztof; Pieruzzi, Federico; Terryn, Wim; Vujkovac, Bojan; Ortiz, Alberto
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Polygenic embryo screening: four clinical considerations warrant further attention多基因胚胎筛查: 四个临床考虑值得进一步关注
errHUMAN REPRODUCTION
IF6.1
err2022-05-23
err11
errOAAI
errPereira, S.; Carmi, S.; Altarescu, G.; Austin, J.; Barlevy, D.; Hershlag, A.; Juengst, E.; Kostick-Quenet, K.; Kovanci, E.; Lathi, R. B.; Mukherjee, M.; Van den Veyver, I; Zuk, O.; Lazaro-Munoz, G.; Lencz, T.
err分享
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