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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

SUPT16H相关神经发育障碍和神经嵴病:遗传和表型谱

Eunhye Lee,Seungmin Sim,Hee-Jung Choi,Eugene Y Liang,Carolyn Le,Roya Bina,Ryan Cohen,Elizabeth George,Soo Yeon Kim,Gifty Bhat,Erin Falsey,Richard Sidlow,Kristin Clinard,Shay Ben-Shachar,Eleina England,Beatriz Menendez,Isabella Herman,Shelly Nielsen,Jaya Punetha,Priya Bhola,J Austin Hamm,Megan A Keeney,Nike Sitzman,Sara Berger,Lakshmi Mehta,Alison J Conn,Lilian Downie,Myla Ashfaq,Hope Northrup,Ange-Line Bruel,Sylvie Odent,Justin O Szot,Noelia Nunez Martinez,Sunju Park,Julie Refkin,Jean-Marc Good,Fabienne Maurer,Cédric Le Caignec,David J Coman,Erin Anderson,Linda J Richards,Ryan J Dean,Caleb Yang,Chulwon Choi,Byung Joon Hwang,Jin Sook Lee,William B Dobyns,Murim Choi,Elliott H Sherr,Jong-Hee Chae,Yun Kee,Emanuela Argilli

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

拓展眼部先天性颅神经支配异常疾病的遗传学和表型研究

Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C; Matos Ruiz, Paola M; Pratt, Brandon M; England, Eleina M; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R; Foster, Emma E; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E; MacArthur, Daniel G; O'Donnell-Luria, Anne; Robson, Caroline D; Hunter, David G; Engle, Elizabeth C

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

利用人类测序、斑马鱼筛选和蛋白质结合微阵列技术鉴定眼部先天性颅神经运动神经元疾病的致病基因

Jurgens, Julie A; Matos Ruiz, Paola M; King, Jessica; Foster, Emma E; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M; Easterbrooks, Teresa; Mensching, Fiona M; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G; Robson, Caroline D; Bulyk, Martha L; Engle, Elizabeth C

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

由 lncRNA 基因 CHASERR 缺失引起的神经发育障碍

Ganesh, Vijay S; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C; Monin, Pauline; O'Leary, Melanie C; Goodrich, Julia K; Garimella, Kiran V; England, Eleina; Weisburd, Ben; Aguet, François; Bacino, Carlos A; Murdock, David R; Dai, Hongzheng; Rosenfeld, Jill A; Emrick, Lisa T; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisée; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; MacArthur, Daniel G; Ulitsky, Igor; Carvill, Gemma L; O'Donnell-Luria, Anne

“I’m worth saving”‐ a qualitative study of people with dementia considering treatment with lecanemab

“我值得被拯救”——一项针对考虑接受lecanemab治疗的痴呆症患者的定性研究

Argilli, Emanuela; Yang, Caleb; Le, Carolyn; Elashoff, Amanda M; Parks, Kendall C; Bakker, Clare; Skotko, Brian G; Pinnell, Nancy; Mahida, Sonal; Olson, Heather; Amburgey, Kimberly; Dowling, James J; Kalsner, Louisa; Rajan, Deepa S; Munro, Christine; Barnett, Christopher; Byrne, Alicia B; England, Eleina M; Aref-Eshghi, Erfan; Mullegama, Sureni V; Morrow, Michelle M; George, Elizabeth; Sherr, Elliott H; Thacker, Ayush; Parks, Anna L; Dohan, Daniel; Gomez, Liliana A Ramirez; Ritchie, Christine S; Paladino, Joanna; Shah, Sachin J

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

E3泛素连接酶底物识别亚基FEM1B中一个反复出现的错义变异会导致一种罕见的综合征性神经发育障碍。

François Lecoquierre ,A Mattijs Punt ,Frédéric Ebstein ,Ilse Wallaard ,Rob Verhagen ,Maja Studencka-Turski ,Yannis Duffourd ,Sébastien Moutton ,Frédédic Tran Mau-Them ,Christophe Philippe ,John Dean ,Stephen Tennant ,Alice S Brooks ,Marjon A van Slegtenhorst ,Julie A Jurgens ,Brenda J Barry ,Wai-Man Chan ,Eleina M England ,Mayra Martinez Ojeda ,Elizabeth C Engle ,Caroline D Robson ,Michelle Morrow ,A Micheil Innes ,Ryan Lamont ,Matthea Sanderson ,Elke Krüger ,Christel Thauvin ,Ben Distel ,Laurence Faivre ,Ype Elgersma ,Antonio Vitobello

Transition of care from pediatric to adult nephrology post-renal transplant: a review

肾移植术后从儿科肾脏病过渡到成人肾脏病护理:一项综述

Sreenivas, Adithya; Salgia, Eleina; Harish, Nikhil; Raina, Rupesh