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Ohad S. Birk

Ben-Gurion University of the Negev

42H指数
167论文数
5.7K被引数
收录论文 80
发表时间
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Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine InvolvementXq26.2连续基因缺失涉及FRMD7和IGSF1：高外显率的婴儿型眼球震颤伴有可变的内分泌参与
errGenes
IF2.8
err2026-09-01
err0
errOAAI
errTomer Poleg; Lior Carmon; Elad Brav; Noam Hadar; Vadim Dolgin; Shirly Amar; Ginat Narkis; Ohad S. Birk; Libe Gradstein
err分享
err收藏
A lethal form of ASCC3 disease: severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism and micropenis一种致命的ASCC3疾病形式：严重的全球性发育迟缓、轴向肌张力减退、胼胝体发育不全、甲状腺功能减退和 micropenis
errHuman Genetics and Genomics Advances
IF3.6
err2026-06-24
err0
errOAAI
errGinat Narkis; Vadim Dolgin; Sufa Sued-Hendrickson; Juman Zahran; Bibi Kanengisser-Pines; Gil Smooha-Schechter; Lior Carmon; Zamir Shorer; Analia Michaelovsky; Ohad S. Birk
err分享
err收藏
FACS-based Dual Fluorescence Reporter Assay Demonstrates Efficacy of Antisense Oligonucleotide Therapy of Novel PRPF3 Intronic Splice Variant基于FACS的双荧光报告基因检测法证明了新型PRPF3内含子剪接变异的反义寡核苷酸疗法的有效性
errMolecular Therapy Nucleic Acids
IF6.1
err2026-05-08
err0
errOAAI
errVadim Dolgin; Ekaterina Eremenko; Ginat Narkis; Masha Mazor Oring; Libe Gradstein; Ohad S. Birk
err分享
err收藏
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant由双等位5’-UTR失活型CEP83变异引起的Joubert综合征与口-面-指综合征合并的纤毛病
errnpj Genomic Medicine
IF4.8
err2025-10-10
err0
errOAAI
errMatan M. Jean; Anan Yunis; Tzofit Elbaz-Biton; Vadim Dolgin; Ginat Narkis; Analia Michaelovsky; Marina Eskin-Schwartz; Alexandra A. Tsitrina; Nadav Agam; Tomer Poleg; Amit Safran; Ofek Freund; Noam Hadar; Dan Levy; Ilan Shelef; Khalil El Amour; Hagit Flusser; Ohad S. Birk
err分享
err收藏
Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry内含子和编码遗传变异在具有阿拉伯半岛血统的以色列贝都因人群中的常染色体隐性多囊肾病
errAmerican Journal of Kidney Diseases
IF8.2
err2025-08-13
err0
PREAI
errNadav Agam; Ohad Wormser; Ari Biller; Noam Hadar; Vadim Dolgin; Ofek Freund; Matan M. Jean; Amit Safran; Tomer Poleg; Bibi Kanengisser-Pines; Rebekka Kebesch-Assi; Masha Mazor-Oring; Osnat Cohen-Zontag; Michal Zmudjak-Olevson; Shlomit Ben-Menachem; Dror Ben-Ruby; Omer Shlomovitz; Asaf Vivante; Benjamin Dekel; Ohad S. Birk; Ruth Schreiber
err分享
err收藏
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociZNF142基因的双等位基因失活变异与一种强烈的DNA甲基化特征相关，该特征影响有限的基因组位点。
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-05-23
err0
PREAI
errHildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, Marco
err分享
err收藏
Mitral Valve Prolapse Caused by TLL1 Gain-of-Function MutationTLL1功能获得性突变导致的二尖瓣脱垂
errCANADIAN JOURNAL OF CARDIOLOGY
IF5.3
err2025-01-01
err1
errOAAI
errAgam, Nadav; Dolgin, Vadim; Star, Artyom; Freund, Ofek; Jean, Matan M.; Safran, Amit; Poleg, Tomer; Zahger, Doron; Birk, Ohad S.
err分享
err收藏
Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure以色列贝都因人中肾功能衰竭患者的遗传性终末补体缺乏症
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2025-01-01
err0
errOAAI
errChowers, Guy; Ben-Ruby, Dror; Atias-Varon, Danit; Shlomovitz, Omer; Slabodnik-Kaner, Keren; Kagan, Maayan; Avayou, Shany; Romanjuk, Elvira; Rogachev, Boris; Haviv, Yosef S.; Birk, Ohad S.; Hadar, Noam; Bathish, Younes; Barshack, Iris; Volkov, Alexander; Avivi, Camila; Pavlovsky, Anna; Haskin, Orly; Simon, Amos J.; Glick-Saar, Efrat; Ostrovsky, Alina; Assi, Mawada; Schreiber, Ruth; Levin, Dana; Yagil, Yoram; Awawdeh, Mohammad; Skorecki, Karl; Dominissini, Dan; Shnaider, Alla; Vivante, Asaf
err分享
err收藏
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries
errDATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
IF3.6
err2024-12-27
err0
errOAAI
errWeintraub, Grisha; Hadar, Noam; Gudes, Ehud; Dolev, Shlomi; Birk, Ohad S.
err分享
err收藏
Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population
errCLINICAL KIDNEY JOURNAL
IF4.6
err2024-12-06
err0
errOAAI
errBen-Ruby, Dror; Atias-Varon, Danit; Kagan, Maayan; Chowers, Guy; Shlomovitz, Omer; Slabodnik-Kaner, Keren; Mano, Neta; Avayou, Shany; Atsmony, Yariv; Levin, Dana; Dotan, Edo; Calderon-Margalit, Ronit; Shnaider, Alla; Haviv, Yosef S.; Birk, Ohad S.; Hadar, Noam; Anikster, Yair; Yanay, Noa Berar; Chernin, Gil; Kruzel-Davila, Etty; Beckerman, Pazit; Rozen-Zvi, Benaya; Doctor, Gabriel T.; Stanescu, Horia C.; Shemer, Revital; Pras, Elon; Reznik-Wolf, Haike; Nahum, Ayelet Hashahar; Dominissini, Dan; Skorecki, Karl; Vivante, Asaf
err分享
err收藏
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-11-05
err0
PREAI
errEskin-Schwartz, Marina; Seraidy, Shaikah; Paz, Eyal; Molhem, Maism; Ranza, Emmanuelle; Antonarakis, Stylianos E.; Blanc, Xavier; Herman, Kristin; Benko, William S.; Libzon, Stephanie; Ben Sira, Liat; Fattal-Valevski, Aviva; Dolgin, Vadim; Birk, Ohad S.; Kessel, Amit; Bross, Peter; Weiss, Celeste; Azem, Abdussalam; Zerem, Ayelet
err分享
err收藏
Tissue-aware interpretation of genetic variants advances the etiology of rare diseases
errMOLECULAR SYSTEMS BIOLOGY
IF7.7
err2024-09-16
err0
errOAAI
errArgov, Chanan M.; Shneyour, Ariel; Jubran, Juman; Sabag, Eric; Mansbach, Avigdor; Sepunaru, Yair; Filtzer, Emmi; Gruber, Gil; Volozhinsky, Miri; Yogev, Yuval; Birk, Ohad; Chalifa-Caspi, Vered; Rokach, Lior; Yeger-Lotem, Esti
err分享
err收藏
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-07-25
err0
PREAI
errGombosh, Maya; Proskorovski-Ohayon, Regina; Yogev, Yuval; Eskin-Schwartz, Marina; Hadar, Noam; Aharoni, Sarit; Dolgin, Vadim; Cohen, Eugen; Birk, Ohad S.
err分享
err收藏
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
errHUMAN GENETICS
IF3.6
err2024-04-12
err5
PREAI
errHadar, Noam; Dolgin, Vadim; Oustinov, Katya; Yogev, Yuval; Poleg, Tomer; Safran, Amit; Freund, Ofek; Agam, Nadav; Jean, Matan M.; Proskorovski-Ohayon, Regina; Wormser, Ohad; Drabkin, Max; Halperin, Daniel; Eskin-Schwartz, Marina; Narkis, Ginat; Sued-Hendrickson, Sufa; Aminov, Ilana; Gombosh, Maya; Aharoni, Sarit; Birk, Ohad S.
err分享
err收藏
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
errGENETICS IN MEDICINE
IF6.2
err2024-04-01
err2
PREAI
errRips, Jonathan; Halstuk, Orli; Fuchs, Adina; Lang, Ziv; Sido, Tal; Gershon-Naamat, Shiri; Abu-Libdeh, Bassam; Edvardson, Simon; Salah, Somaya; Breuer, Oded; Hadhud, Mohamad; Eden, Sharon; Simon, Itamar; Slae, Mordechai; Damseh, Nadirah S.; Abu-Libdeh, Abdulsalam; Eskin-Schwartz, Marina; Birk, Ohad S.; Varga, Julia; Schueler-Furman, Ora; Rosenbluh, Chaggai; Elpeleg, Orly; Yanovsky-Dagan, Shira; Mor-Shaked, Hagar; Harel, Tamar
err分享
err收藏
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-03-04
err7
errOAAI
errHadar, Noam; Porgador, Omri; Cohen, Idan; Levi, Hilla; Dolgin, Vadim; Yogev, Yuval; Sued-Hendrickson, Sufa; Shelef, Ilan; Didkovsky, Elena; Eskin-Schwartz, Marina; Birk, Ohad S.
err分享
err收藏
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma
errJOURNAL OF MEDICAL VIROLOGY
IF4.6
err2024-02-21
err1
PREAI
errYogev, Yuval; Schaffer, Moshe; Shlapobersky, Mark; Jean, Matan M.; Wormser, Ohad; Drabkin, Max; Halperin, Daniel; Kassem, Riad; Livoff, Alejandro; Tsitrina, Alexandra A.; Asna, Noam; Birk, Ohad S.
err分享
err收藏
ZNF142 mutation causes sex-dependent neurologic disorder
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-01-31
err2
PREAI
errProskorovski-Ohayon, Regina; Eskin-Schwartz, Marina; Shorer, Zamir; Kadir, Rotem; Halperin, Daniel; Drabkin, Max; Yogev, Yuval; Aharoni, Sarit; Hadar, Noam; Cohen, Hagit; Eremenko, Ekaterina; Perez, Yonatan; Birk, Ohad S.
err分享
err收藏
SMARCA4 mutation causes human otosclerosis and a similar phenotype in miceSMARCA4突变导致人类耳硬化症和小鼠的相似表型
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-06-30
err3
PREAI
errDrabkin, Max; Jean, Matan M.; Noy, Yael; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Proskorovski-Ohayon, Regina; Dolgin, Vadim; Levaot, Noam; Brumfeld, Vlad; Ovadia, Shira; Kishner, Mor; Kazenell, Udi; Avraham, Karen B.; Shelef, Ilan; Birk, Ohad S.
err分享
err收藏
GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture
errDATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
IF3.6
err2023-06-13
err3
errOAAI
errHadar, Noam; Weintraub, Grisha; Gudes, Ehud; Dolev, Shlomi; Birk, Ohad S.
err分享
err收藏

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