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

Identification of pathological CD133+ endothelial cells in venous malformations

静脉畸形中病理性CD133+内皮细胞的鉴定

Shawber, Carrie J; Clapp, Averill; Shapiro-Franklin, Noa; Yang, Shirley; Harvill, Mason G; Iaconetti, Emma; Schonning, Michael J; Zeiler, Andrew I; Perez, Meghan; Koh, Seung; Alkelai, Anna; Wu, June K

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Yoo-Jin Jiny Ha ,Ashna Nisal,Isaac Tang,Chanjae Lee,Ishani Jhamb,Cassidy Wallace,Robyn Howarth,Sarah Schroeder,Keng Ioi Vong,Naomi Meave,Fiza Jiwani,Chelsea Barrows,Sangmoon Lee,Nan Jiang,Arzoo Patel,Krisha Bagga,Niyati Banka,Liana Friedman,Francisco A Blanco,Seyoung Yu,Soeun Rhee,Hui Su Jeong ,Isaac Plutzer,Michael B Major,Béatrice Benoit,Christian Poüs,Caleb Heffner,Zoha Kibar,Gyang Markus Bot,Hope Northrup,Kit Sing Au,Madison Strain,Allison E Ashley-Koch,Richard H Finnell,Joan T Le,Hal S Meltzer,Camila Araujo,Helio R Machado,Roger E Stevenson,Anna Yurrita,Sara Mumtaz,Awais Ahmed,Mulazim Hussain Khara,Osvaldo M Mutchinick,José Ramón Medina-Bereciartu,Friedhelm Hildebrandt,Gia Melikishvili,Ahmed I Marwan,Valeria Capra,Mahmoud M Noureldeen,Aida M S Salem,Mahmoud Y Issa,Maha S Zaki,Libin Xu,Ji Eun Lee,Donghyuk Shin,Anna Alkelai,Alan R Shuldiner,Stephen F Kingsmore,Stephen A Murray,Heon Yung Gee,W Todd Miller,Kimberley F Tolias,John B Wallingford  ; Spina Bifida Sequencing Consortium; Sangwoo Kim ,Joseph G Gleeson

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance

对塞浦路斯遗传性心肌病患者进行大规模平行DNA测序,并提示双基因或寡基因遗传模式

Koutsofti, Constantina; Ioannides, Marios; Polydorou, Christiana; Papagregoriou, Gregory; Malatras, Apostolos; Michael, George; Hadjiioannou, Irene; Pieri, Stylianos; Loizidou, Eleni M; Eftychiou, Christos; Papasavvas, Elias; Christophides, Theodoros; Alkelai, Anna; Kapoor, Manav; Shuldiner, Alan R; Avraamides, Panayiotis; Deltas, Constantinos

Identification and functional validation of rare coding variants in genes linked to monogenic obesity.

鉴定和功能验证与单基因肥胖相关的基因中的罕见编码变异

Köroğlu Çiğdem, Traurig Michael, Muller Yunhua L, Day Samantha E, Piaggi Paolo, Wiedrich Kim, Vazquez Laura, Hanson Robert L, Van Hout Cristopher V, Alkelai Anna, Shuldiner Alan R, Bogardus Clifton, Baier Leslie J

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

对基因组数据进行同步双重分析可增强诊断:未确诊疾病网络中两个临床中心的经验

Spillmann, Rebecca C; Tan, Queenie K-G; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T; Bernstein, Jonathan A; Shashi, Vandana

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

蛋白磷酸酶 1 调节亚基 3F (PPP1R3F) 的半合子变异与神经发育障碍有关,其特征是发育迟缓、智力障碍和自闭症

Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer,

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

对德鲁兹人的全面基因分析为携带者筛查提供了见解

Avnat, Eden; Shapira, Guy; Shoval, Shelly; Israel-Elgali, Ifat; Alkelai, Anna; Shuldiner, Alan R; Gonzaga-Jauregui, Claudia; Zidan, Jamal; Maray, Taiseer; Shomron, Noam; Friedman, Eitan

Investigation into the genetics of fetal congenital lymphatic anomalies

胎儿先天性淋巴异常的遗传学研究

Rogerson, Daniella; Alkelai, Anna; Giordano, Jessica; Pantrangi, Madhulatha; Hsiao, Meng-Chang; Nhan-Chang, Chia-Ling; Motelow, Joshua E; Aggarwal, Vimla; Goldstein, David; Wapner, Ron; Shawber, Carrie J