未登录Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews原发性补体成分2（C2）缺陷的临床与群体遗传学见解：阿什肯纳兹犹太人中的奠基者变异
Shamriz, Oded; Molho-Pessach, Vered; Benshushan, Stephanie; Simon, Amos J.; Orbaum-Harel, Odelia; Askenasy, Enosh; Slovik, Maya; Shaag, Avraham; Volovelsky, Oded; Shimonov, Amir; Berkun, Yacov; Tal, Yuval; Matza-Porges, Sigal .png)
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收藏Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotypeShalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J.; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna 分享 收藏 分享 收藏 Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within IsraelMiller, Danielle; Martin, Michael A.; Harel, Noam; Tirosh, Omer; Kustin, Talia; Meir, Moran; Sorek, Nadav; Gefen-Halevi, Shiraz; Amit, Sharon; Vorontsov, Olesya; Shaag, Avraham; Wolf, Dana; Peretz, Avi; Shemer-Avni, Yonat; Roif-Kaminsky, Diana; Kopelman, Naama M.; Huppert, Amit; Koelle, Katia; Stern, Adi 分享 收藏 Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell TransplantationNaserEddin, Adeeb; Dinur-Schejter, Yael; Shadur, Bella; Zaidman, Irina; Even-Or, Ehud; Averbuch, Diana; Shamriz, Oded; Tal, Yuval; Shaag, Avraham; Warnatz, Klaus; Elpeleg, Orly; Stepensky, Polina 分享 收藏 A mutation in POLR3E impairs antiviral immune response and RNA polymerase IIIPOLR3E中的突变会损害抗病毒免疫反应和RNA聚合酶IIIRamanathan, Aravind; Weintraub, Michael; Orlovetskie, Natalie; Serruya, Raphael; Mani, Dhivakar; Marcu, Orly; Stepensky, Polina; Weisblum, Yiska; Djian, Esther; Shaag, Avraham; Revel-Vilk, Shoshana; Fried, Iris; Kotler, Moshe; Rouvinski, Alex; Wolf, Dana; Elpeleg, Orly; Jarrous, Nayef 分享 收藏 Pathogenic Variants in NUP214 Cause Plugged'' Nuclear Pore Channels and Acute Febrile EncephalopathyFichtman, Boris; Harel, Tamar; Biran, Nitzan; Zagairy, Fadia; Applegate, Carolyn D.; Salzberg, Yuval; Gilboa, Tal; Salah, Somaya; Shaag, Avraham; Simanovsky, Natalia; Ayoubieh, Houriya; Sobreira, Nara; Punzi, Giuseppe; Pierri, Ciro Leonardo; Hamosh, Ada; Elpeleg, Orly; Harel, Amnon; Edvardson, Simon 分享 收藏 Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathyLAP1B和LAP1C的联合丢失导致早期发作的多系统核包膜病Fichtman, Boris; Zagairy, Fadia; Biran, Nitzan; Barsheshet, Yiftah; Chervinsky, Elena; Ben Neriah, Ziva; Shaag, Avraham; Assa, Michael; Elpeleg, Orly; Harel, Amnon; Spiegel, Ronen 分享 收藏 Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewZehavi, Yoav; Mandel, Hanna; Eran, Ayelet; Ravid, Sarit; Abu Rashid, Muhammad; Jansen, Erwin E. W.; Wamelink, Mirjam M. C.; Saada, Ann; Shaag, Avraham; Elpeleg, Orly; Spiegel, Ronen 分享 收藏 Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to ThriveEdvardson, Simon; Nicolae, Claudia M.; Noh, Grace J.; Burton, Jennifer E.; Punzi, Giuseppe; Shaag, Avraham; Bischetsrieder, Jessica; De Grassi, Anna; Pierri, Ciro Leonardo; Elpeleg, Orly; Moldovan, George-Lucian 分享 收藏 Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityTa-Shma, Asaf; Hjeij, Rim; Perles, Zeev; Dougherty, Gerard W.; Abu Zahira, Ibrahim; Letteboer, Stef J. F.; Antony, Dinu; Darwish, Alaa; Mans, Dorus A.; Spittler, Sabrina; Edelbusch, Christine; Cindric, Sandra; Noethe-Menchen, Tabea; Olbrich, Heike; Stuhlmann, Friederike; Aprea, Isabella; Pennekamp, Petra; Loges, Niki T.; Breuer, Oded; Shaag, Avraham; Rein, Azaria J. J. T.; Gulec, Elif Yilmaz; Gezdirici, Alper; Abitbul, Revital; Elias, Nael; Amirav, Israel; Schmidts, Miriam; Roepman, Ronald; Elpeleg, Orly; Omran, Heymut 分享 收藏 Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi DysfunctionMilev, Miroslav P.; Grout, Megan E.; Saint-Dic, Djenann; Cheng, Yong-Han Hank; Glass, Ian A.; Hale, Christopher J.; Hanna, David S.; Dorschner, Michael O.; Prematilake, Keshika; Shaag, Avraham; Elpeleg, Orly; Sacher, Michael; Doherty, Dan; Edvardson, Simon 分享 收藏 Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodEdvardson, Simon; Nicolae, Claudia M.; Agrawal, Pankaj B.; Mignot, Cyril; Payne, Katelyn; Prasad, Asuri Narayan; Prasad, Chitra; Sadler, Laurie; Nava, Caroline; Mullen, Thomas E.; Begtrup, Amber; Baskin, Berivan; Powis, Zoe; Shaag, Avraham; Keren, Boris; Moldovan, George-Lucian; Elpeleg, Orly 分享 收藏 Congenital valvular defects associated with deleterious mutations in the PLD1 geneTa-Shma, Asaf; Zhang, Kai; Salimova, Ekaterina; Zernecke, Alma; Sieiro-Mosti, Daniel; Stegner, David; Furtado, Milena; Shaag, Avraham; Perles, Zeev; Nieswandt, Bernhard; Rein, Azaria J. J. 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Sascha; Hershkovitz, Dov; Stein, Jerry; Unger, Susanne; Schachtrup, Kristina; Sigvardsson, Mikael; Kuperman, Amir A.; Shaag, Avraham; Schamel, Wolfgang W.; Elpeleg, Orly; Warnatz, Klaus; Stepensky, Polina 分享 收藏 分享 收藏 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationSpiegel, Ronen; Saada, Ann; Flannery, Padraig J.; Burte, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Veronica; Vladovski, Eugene; Taylor, Robert W.; Bindoff, Laurence A.; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A.; Elpeleg, Orly; Yu-Wai-Man, Patrick 分享 收藏 
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