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A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea 一种新型纯合BMP15突变导致卵巢发育不良和原发性闭经 Cohen, Amitay; Rossetti, Raffaella; Florsheim, Natan; Samson, Abraham O.; Renbaum, Paul; Carbone, Erika; Persani, Luca; Levy-Lahad, Ephrat; Abu-Libdeh, Abdulsalam; Zangen, David 分享 收藏
Discovering predisposing genes for hereditary breast cancer using deep learning Passi, Gal; Lieberman, Sari; Zahdeh, Fouad; Murik, Omer; Renbaum, Paul; Beeri, Rachel; Linial, Michal; May, Dalit; Levy-Lahad, Ephrat; Schneidman-Duhovny, Dina 分享 收藏
Using multi-scale genomics to associate poorly annotated genes with rare diseases 使用多尺度基因组学将低注释基因与罕见疾病相关联 Canavati, Christina; Sherill-Rofe, Dana; Kamal, Lara; Bloch, Idit; Zahdeh, Fouad; Sharon, Elad; Terespolsky, Batel; Allan, Islam Abu; Rabie, Grace; Kawas, Mariana; Kassem, Hanin; Avraham, Karen B.; Renbaum, Paul; Levy-Lahad, Ephrat; Kanaan, Moien; Tabach, Yuval 分享 收藏
Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis DNA损伤反应基因FIGNL1的功能丧失导致人类卵巢发育不全 Florsheim, Natan; Naugolni, Larisa; Zahdeh, Fouad; Lobel, Orit; Terespolsky, Batel; Michaelson-Cohen, Rachel; Gold, Merav Y.; Goldberg, Michal; Renbaum, Paul; Levy-Lahad, Ephrat; Zangen, David 分享 收藏
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline Sessa, C.; Balmana, J.; Bober, S. L.; Cardoso, M. J.; Colombo, N.; Curigliano, G.; Domchek, S. M.; Evans, D. G.; Fischerova, D.; Harbeck, N.; Kuhl, C.; Lemley, B.; Levy-Lahad, E.; Lambertini, M.; Ledermann, J. A.; Loibl, S.; Phillips, K. -A.; Paluch-Shimon, S. 分享 收藏
BRCA mutational status shapes the stromal microenvironment of pancreatic cancer linking clusterin expression in cancer associated fibroblasts with HSF1 signaling BRCA突变状态塑造了胰腺癌的基质微环境，将癌症相关成纤维细胞中的簇蛋白表达与HSF1信号联系起来 Shaashua, Lee; Ben-Shmuel, Aviad; Pevsner-Fischer, Meirav; Friedman, Gil; Levi-Galibov, Oshrat; Nandakumar, Subhiksha; Barki, Debra; Nevo, Reinat; Brown, Lauren E.; Zhang, Wenhan; Stein, Yaniv; Lior, Chen; Kim, Han Sang; Bojmar, Linda; Jarnagin, William R.; Lecomte, Nicolas; Mayer, Shimrit; Stok, Roni; Bishara, Hend; Hamodi, Rawand; Levy-Lahad, Ephrat; Golan, Talia; Porco, John A., Jr.; Iacobuzio-Donahue, Christine A.; Schultz, Nikolaus; Tuveson, David A.; Lyden, David; Kelsen, David; Scherz-Shouval, Ruth 分享 收藏
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Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews 埃塞俄比亚犹太人的常见创始人BRCA2致病变异和乳腺癌特征 Lieberman, S.; Chen-Shtoyerman, R.; Levi, Z.; Shkedi-Rafid, S.; Zuckerman, S.; Bernstein-Molho, R.; Levi, G. Reznick; Shachar, S. S.; Flugelman, A.; Libman, V.; Kedar, I.; Naftaly-Nathan, S.; Lagovsky, I.; Peretz, T.; Karminsky, N.; Carmi, S.; Levy-Lahad, E.; Goldberg, Y. 分享 收藏
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The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects 欧洲人群常染色体隐性致病变异的景观揭示了表型特异性效应 Fridman, Hila; Yntema, Helger G.; Magi, Reedik; Andreson, Reidar; Metspalu, Andres; Mezzavila, Massimo; Tyler-Smith, Chris; Xue, Yali; Carmi, Shai; Levy-Lahad, Ephrat; Gilissen, Christian; Brunner, Han G. 分享 收藏
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NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion NKX2-2突变导致先天性糖尿病和婴儿肥胖，并伴有反常的葡萄糖诱导的Ghrelin分泌 Auerbach, Adi; Cohen, Amitay; Shlomai, Noa Ofek; Weinberg-Shukron, Ariella; Gulsuner, Suleyman; King, Mary-Claire; Hemi, Rina; Levy-Lahad, Ephrat; Abulibdeh, Abdulsalam; Zangen, David 分享 收藏
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD HSD17B3基因中新建立者纯合V225M突变导致异常剪接和xy-dsd Levy-Khademi, Floris; Zeligson, Sharon; Lavi, Eran; Klopstock, Tehila; Chertin, Boris; Avnon-Ziv, Carmit; Abulibdeh, Abdulsalam; Renbaum, Paul; Rosen, Tzvia; Perlberg-Bengio, Shira; Zahdeh, Fouad; Behar, Doron M.; Levy-Lahad, Ephrat; Zangen, David; Segel, Reeval 分享 收藏
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