日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

染色体微阵列和外显子组测序在临床诊断中检测到的拷贝数变异具有高度一致性

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.70079
Birnbaum, Rivka; Slovik, Maya; Zenvirt, Shamir; Livyatan, Ilana; Altman, Israel; Gershon, Shiri; Rips, Jonathan; Daum, Hagit; Rosenbluh, Chaggai; Elpeleg, Orly; Meiner, Vardiella; Frumkin, Ayala; Mor-Shaked, Hagar; Harel, Tamar
发表日期：2026
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A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI179438
Hastar Nurcan, Daum Hagit, Kardos-Török Nikoletta, Ganz Gael, Obendorf Leon, Vajkoczy Peter, Elpeleg Orly, Knaus Petra
其它
发表日期：2025
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'When Lightning Strikes Twice'-Preimplantation Genetic Testing for Two Indications in One Biopsy

“双重打击”——一次活检即可进行两种适应症的胚胎植入前基因检测

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.6779
Kremer, Einav; Daum, Hagit; Solnica, Amy; Krisher, Tamar; Ben Meir, Assaf; Esh-Broder, Efrat; Gilad, Mali Ketzinel; Mordechai, Talya Daniel; Imbar, Tal
发表日期：2025
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Lethal acantholytic epidermolysis bullosa- a report on the prenatal phenotype of two cases and a review of antenatal sonographic signs of congenital denuding skin diseases

致死性棘层松解性大疱性表皮松解症——两例产前表型报告及先天性剥脱性皮肤病产前超声征象回顾

期刊:BMC Pregnancy and Childbirth
影响因子:2.7
doi:10.1186/s12884-025-07380-y
Lehavi, Maya; Daum, Hagit; Hacohen, Nuphar; Gur, Michal; Rips, Jonathan; Salah, Somaya; Ofek-Shlomai, Noa; Porat, Shay
发表日期：2025
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RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

RNA分析能够解析和重新分类据报道为良性的同义变异

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14772
Fuchs, Adina; Kobal, Inbar; Popper, Dov; Porat, Shay; Rosenbloom, Joshua I; Slae, Mordechai; Yanovsky Dagan, Shira; Meiner, Vardiella; Molho-Pessach, Vered; Daum, Hagit; Harel, Tamar
发表日期：2025
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Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics

设想并阻止未来出现具有不同性特征的身体

期刊:Archives of Sexual Behavior
影响因子:
doi:10.1007/s10508-025-03261-9
Meoded Danon, Limor; Paperna, Tamar; Daum, Hagit; Zuckerman, Shachar
发表日期：2025
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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

SNF8基因的双等位基因变异会导致一系列疾病，从严重的脑发育和癫痫性脑病到综合征性视神经萎缩。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.02.005
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias
发育与干细胞
癫痫
SNF8
神经科学
发表日期：2024
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Exome sequencing for structurally normal fetuses-yields and ethical issues

对结构正常的胎儿进行外显子组测序——结果和伦理问题

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01169-9
Daum, Hagit; Harel, Tamar; Millo, Talya; Eilat, Avital; Fahham, Duha; Gershon-Naamat, Shiri; Basal, Adily; Rosenbluh, Chaggai; Yanai, Nili; Porat, Shay; Kabiri, Doron; Yagel, Simcha; Valsky, Dan V; Elpeleg, Orly; Meiner, Vardiella; Mor-Shaked, Hagar
发表日期：2023
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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Smith-Lemli-Opitz 综合征：DHCR7:c.964-1G>C 变异携带者夫妇的实际风险是多少？

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0577-0
Daum, Hagit; Meiner, Vardiella; Michaelson-Cohen, Rachel; Sukenik-Halevy, Rivka; Zalcberg, Michal Levy; Bar-Ziv, Anat; Weiden, A Tzvi; Scher, Sholem Y; Shohat, Mordechai; Zlotogora, Joël
发表日期：2020
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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

GNE变异导致常染色体隐性遗传性巨血小板减少症，但不伴有肌肉萎缩

期刊:Blood
影响因子:23.1
doi:10.1182/blood-2018-04-845545
Revel-Vilk, Shoshana; Shai, Ela; Turro, Ernest; Jahshan, Nivin; Hi-Am, Esti; Spectre, Galia; Daum, Hagit; Kalish, Yossef; Althaus, Karina; Greinacher, Andreas; Kaplinsky, Chaim; Izraeli, Shai; Mapeta, Rutendo; Deevi, Sri V V; Jarocha, Danuta; Ouwehand, Willem H; Downes, Kate; Poncz, Mortimer; Varon, David; Lambert, Michele P
血小板
发表日期：2018
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