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

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder

CACNB1基因N端截短变异会导致一种新的先天性肌肉疾病。

Iturrate, Asier; Assia Batzir, Nurit; Jaron, Ranit; Garcia-Valentin, David; Nevado, Julian; Tenorio-Castano, Jair; Lapunzina, Pablo; Lee, Kamila; Greenberg, Rotem; Sassi, Dvora; Aharoni, Sharon; Kuzminsky, Alla; Basel-Salmon, Lina; Orenstein, Naama; Fellig, Yakov; Ben-Shachar, Shay; Marek-Yagel, Dina; Ruiz-Perez, Victor L

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

对患有费兰-麦克德米德综合征的以色列患者进行临床特征分析和医疗管理

Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

转录因子 FOXD2 功能障碍与肾脏和泌尿道综合征性先天性异常 (CAKUT) 的关系

Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, L

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

GPATCH11 变异会导致错误剪接和早发性视网膜营养不良,并伴有神经系统损伤

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E Roger, Isabelle Audo, Matthieu P Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylva

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

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

ZFHX3基因编码神经元发育的关键因子,其单倍体不足会导致综合征型智力障碍。

María Del Rocío Pérez Baca ,Eva Z Jacobs ,Lies Vantomme ,Pontus Leblanc ,Elke Bogaert ,Annelies Dheedene ,Laurenz De Cock ,Sadegheh Haghshenas ,Aidin Foroutan ,Michael A Levy ,Jennifer Kerkhof ,Haley McConkey ,Chun-An Chen ,Nurit Assia Batzir ,Xia Wang ,María Palomares ,Marieke Carels ,Bekim Sadikovic ,Björn Menten ,Bo Yuan ,Sarah Vergult ,Bert Callewaert

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas

先证者外显子组测序后,具有临床意义的偶然发现和继发性父母基因组学发现:收益与困境

Basel-Salmon, Lina; Ruhrman-Shahar, Noa; Orenstein, Naama; Levy, Michal; Lidzbarsky, Gabriel A; Batzir, Nurit A; Lifshitc-Kalis, Marina; Farage-Barhom, Sarit; Abel, Gali; Petasny, Mayra; Brabbing-Goldstein, Dana; Fellner, Avi; Bazak, Lily

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

对具有复发性基因组疾病缺失的个体基因组进行测序:一种表征常染色体隐性罕见病性状基因的方法

Bo Yuan ,Katharina V Schulze ,Nurit Assia Batzir ,Jefferson Sinson ,Hongzheng Dai ,Wenmiao Zhu ,Francia Bocanegra ,Chin-To Fong ,Jimmy Holder ,Joanne Nguyen ,Christian P Schaaf ,Yaping Yang ,Weimin Bi ,Christine Eng ,Chad Shaw ,James R Lupski ,Pengfei Liu

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia

KPNA3 显性突变导致婴儿发病的遗传性痉挛性截瘫

Claudia Schob, Maja Hempel, Dana Safka Brozkova, Huafang Jiang, Soo Yeon Kim, Nurit Assia Batzir, Naama Orenstein, Tatjana Bierhals, Jessika Johannsen, Anna Uhrova Meszarosova, Jong-Hee Chae, Pavel Seeman, Mathias Woidy, Fang Fang, Christian Kubisch, Stefan Kindler, Jonas Denecke

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

ACTG2基因中精氨酸的反复替换是内脏肌病疾病负担和严重程度的主要驱动因素。

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F