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

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening

对数字基因助手在基因携带者筛查技术辅助遗传咨询中的应用进行评估

Yaron, Yuval; Ofen Glassner, Vered; Berkenstadt, Michal; Goldstein, Nurit; Reznik Wolf, Haike; Ries Levavi, Liat; Abo Gutstein, Liat; Furman, Yael; Anouchi, Mori; Delmar, Galit; Behar, Doron M; Pras, Elon; Reches, Adi; Kurolap, Alina; Baris Feldman, Hagit

The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition

CHAPLE 病患者体验:一项针对罕见病临床试验的访谈结果

Litcher-Kelly, Leighann; Ozen, Ahmet; Ollis, Sarah; Feldman, Hagit Baris; Yaworsky, Andrew; Medrano, Paolo; Chongsrisawat, Voranush; Perlee, Lorah; Walker, Marisa; Pradeep, Sharanya; Turner-Bowker, Diane M; Kurolap, Alina; Adiv, Orly Eshach; Lenardo, Michael J; Harari, Olivier A; Jalbert, Jessica J

Beyond endocrine resistance: estrogen receptor (ESR1) activating mutations mediate chemotherapy resistance through the JNK/c-Jun MDR1 pathway in breast cancer

超越内分泌耐药性:雌激素受体 (ESR1) 激活突变通过乳腺癌中的 JNK/c-Jun MDR1 通路介导化疗耐药性

Marwa Taya, Keren Merenbakh-Lamin, Asia Zubkov, Zohar Honig, Alina Kurolap, Ori Mayer, Noam Shomron, Ido Wolf, Tami Rubinek0

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic

单中心神经遗传诊所罕见运动障碍患者的高基因诊断率

Penn, Dvir; Amir, Yam; David, Gil Ben; Kurolap, Alina; Barel, Dalit; Hamiel, Uri; Bach, Michal; Elhanan, Emil; Barkan, Tali; Marom, Daphna; Mory, Adi; Simantov, Noga; Eshed, Gadi Maayan; Faust-Socher, Achinoam; Livneh, Vered; Thaler, Avner; Omer, Nurit; Shiner, Tamara; Giladi, Nir; Gurevich, Tanya; Feldman, Hagit Baris; Alcalay, Roy N; Yaron, Yuval; Ponger, Penina

National Rapid Genome Sequencing in Neonatal Intensive Care

新生儿重症监护中的国家快速基因组测序

Marom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Fleisher Sheffer, Vered; Falik-Zaccai, Tzipora C; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Baris Feldman, Hagit

Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health

心房利钠肽转化酶Corin完全缺失及CHAF-LA综合征:对利钠肽生理和左心房健康的影响

Kurolap, Alina; Chai Gadot, Chofit; Zahler, David; Ablin, Jacob N; Baris Feldman, Hagit

The d3GHR carrier epigenome in Druze clan longevity

德鲁兹族长寿中的 d3GHR 携带者表观基因组

Ghadeer Falah, Alina Kurolap, Tamar Paperna, Nina Ekhilevitch, Nivin Moustafa, Nadine Damouny-Naoum, Yam Amir, Lital Sharvit, Rihan Moghrabi, Gamal Hassoun, Fuad Fares, Hagit Baris Feldman, Gil Atzmon

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

DOCK4 杂合功能丧失变异导致神经发育迟缓和小头畸形

Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, Anna C E Hurst, Melissa A Kelly, Michael C Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R Mark, Markus Morawski, Mathilde N

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

DHX9 基因(编码 DExH-box 解旋酶 DHX9 的基因)的单等位基因变异是神经发育障碍和腓骨肌萎缩症的根本原因

Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis He

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

利用社区数据驱动的方法识别致病性创始人变异,用于泛种族携带者筛查。

Einhorn, Yaron; Einhorn, Moshe; Kurolap, Alina; Steinberg, Dror; Mory, Adi; Bazak, Lily; Paperna, Tamar; Grinshpun-Cohen, Julia; Basel-Salmon, Lina; Weiss, Karin; Singer, Amihood; Yaron, Yuval; Baris Feldman, Hagit