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

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

由编码磷酸二酯酶 1B 的 PDE1B 基因双等位基因变异引起的早发性运动障碍综合征

Poleg, Tomer; Hadar, Noam; Kristal, Eyal; Roberts, Nicola Y; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan; Freund, Ofek; Sheridan, Eamonn G; Poulter, James A; Thompson, Michelle L; Algoos, Yusra; Al-Qahtani, Salma; AlAbdi, Lama; Maddirevula, Sateesh; Hartill, Verity; Houlden, Henry; Maroofian, Reza; Nahum, Amit; Birk, Ohad S

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure

以色列贝都因人肾衰竭中的遗传性末端补体缺陷

Chowers, 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

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation

通过IGV解读揭示先前难以捉摸的Rett综合征病例中的MECP2结构变异

Poleg, Tomer; Hadar, Noam; Heimer, Gali; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan M; Freund, Ofek; Kaur, Simran; Christodoulou, John; Ben-Zeev, Bruria; Birk, Ohad S

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

以色列透析人群中 APOL1 G1 和 G2 变体的多民族患病率

Ben-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, Berar Yanay Noa, 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

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

SLC30A5 变异影响 ZnT5 锌转运蛋白的功能,导致新生儿严重肌张力低下。

Dolgin, Vadim; Chabosseau, Pauline; Bistritzer, Jacob; Noyman, Iris; Staretz-Chacham, Orna; Wormser, Ohad; Hadar, Noam; Eskin-Schwartz, Marina; Kanengisser-Pines, Bibi; Narkis, Ginat; Abramsky, Ramy; Shany, Eilon; Rutter, Guy A; Marks, Kyla; Birk, Ohad S

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice

THBS2 杂合致病变异会导致人类和小鼠出现以显著血管特征为特征的埃勒斯-当洛斯综合征。

Hadar, Noam; Porgador, Omri; Cohen, Idan; Levi, Hilla; Dolgin, Vadim; Yogev, Yuval; Sued-Hendrickson, Sufa; Shelef, Ilan; Didkovsky, Elena; Eskin-Schwartz, Marina; Birk, Ohad S

GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries

GeniePool 2.0:通过 CHM13-T2T、AlphaMissense、gnomAD V4 整合和变异共现查询推进变异分析

Weintraub, Grisha; Hadar, Noam; Gudes, Ehud; Dolev, Shlomi; Birk, Ohad S

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications

STRavinsky STR数据库和PGTailor PGT工具表明,在基于STR的应用中,CHM13-T2T优于hg38和hg19。

Hadar, Noam; Narkis, Ginat; Amar, Shirly; Varnavsky, Marina; Palti, Glenda Calniquer; Safran, Amit; Birk, Ohad S

TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

TSHB R75G 是一种创始变异,也是印度犹太人中 TSH 水平低下或检测不到的常见原因。

Shaki, David; Eskin-Schwartz, Marina; Hadar, Noam; Bosin, Emily; Carmon, Lior; Refetoff, Samuel; Hershkovitz, Eli; Birk, Ohad S; Haim, Alon

PSMC1 variant causes a novel neurological syndrome

PSMC1 变异体导致一种新的神经系统综合征

Aharoni, Sarit; Proskorovski-Ohayon, Regina; Krishnan, Ramesh Kumar; Yogev, Yuval; Wormser, Ohad; Hadar, Noam; Bakhrat, Anna; Alshafee, Ismael; Gombosh, Maya; Agam, Nadav; Gradstein, Libe; Shorer, Zamir; Zarivach, Raz; Eskin-Schwartz, Marina; Abdu, Uri; Birk, Ohad S