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

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍

Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2

开发疾病特异性的、易于获取的转录特征作为2型眼动失用性共济失调的生物标志物

Ngo, Kathie J; Wong, Darice Y; Huang, Alden Y; Lee, Hane; Nelson, Stanley F; Fogel, Brent L

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

对RNA测序数据的重新分析结束了漫长的诊断历程,并扩展了先天性肌联蛋白病的表型谱。

McNamee, Lucy; Schoch, Kelly; Huang, Alden; Lee, Hane; Wang, Lee-Kai; Smith, Edward C; Lark, Robert K; Buckley, Anne F; Jobanputra, Vaidehi; Nelson, Stanley F; Shashi, Vandana

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

Genetic and functional analysis of a Pacific hagfish opioid system

太平洋盲鳗阿片系统的遗传和功能分析

Huang, Alden Y; Taylor, Anna M W; Ghogha, Atefeh; Pribadi, Mochtar; Wang, Qing; Kim, Tanya S J; Cahill, Catherine M; Coppola, Giovanni; Evans, Christopher J

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

用于发现未确诊病例中解释性变异的计算工作流程的共性

Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R; Liu, Pengfei; Wegner, Daniel J; Paul, Alexander J; Sunyaev, Shamil R; Kohane, Isaac S

Synaptic processes and immune-related pathways implicated in Tourette syndrome

图雷特综合征涉及的突触过程和免疫相关通路

Tsetsos, Fotis; Yu, Dongmei; Sul, Jae Hoon; Huang, Alden Y; Illmann, Cornelia; Osiecki, Lisa; Darrow, Sabrina M; Hirschtritt, Matthew E; Greenberg, Erica; Muller-Vahl, Kirsten R; Stuhrmann, Manfred; Dion, Yves; Rouleau, Guy A; Aschauer, Harald; Stamenkovic, Mara; Schlögelhofer, Monika; Sandor, Paul; Barr, Cathy L; Grados, Marco A; Singer, Harvey S; Nöthen, Markus M; Hebebrand, Johannes; Hinney, Anke; King, Robert A; Fernandez, Thomas V; Barta, Csaba; Tarnok, Zsanett; Nagy, Peter; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Budman, Cathy L; Rizzo, Renata; Lyon, Gholson J; McMahon, William M; Batterson, James R; Cath, Danielle C; Malaty, Irene A; Okun, Michael S; Berlin, Cheston; Woods, Douglas W; Lee, Paul C; Jankovic, Joseph; Robertson, Mary M; Gilbert, Donald L; Brown, Lawrence W; Coffey, Barbara J; Dietrich, Andrea; Hoekstra, Pieter J; Kuperman, Samuel; Zinner, Samuel H; Wagner, Michael; Knowles, James A; Jeremy Willsey, A; Tischfield, Jay A; Heiman, Gary A; Cox, Nancy J; Freimer, Nelson B; Neale, Benjamin M; Davis, Lea K; Coppola, Giovanni; Mathews, Carol A; Scharf, Jeremiah M; Paschou, Peristera; Barr, Cathy L; Batterson, James R; Berlin, Cheston; Budman, Cathy L; Cath, Danielle C; Coppola, Giovanni; Cox, Nancy J; Darrow, Sabrina; Davis, Lea K; Dion, Yves; Freimer, Nelson B; Grados, Marco A; Greenberg, Erica; Hirschtritt, Matthew E; Huang, Alden Y; Illmann, Cornelia; King, Robert A; Kurlan, Roger; Leckman, James F; Lyon, Gholson J; Malaty, Irene A; Mathews, Carol A; McMahon, William M; Neale, Benjamin M; Okun, Michael S; Osiecki, Lisa; Robertson, Mary M; Rouleau, Guy A; Sandor, Paul; Scharf, Jeremiah M; Singer, Harvey S; Smit, Jan H; Sul, Jae Hoon; Yu, Dongmei; Aschauer, Harald Aschauer Harald; Barta, Csaba; Budman, Cathy L; Cath, Danielle C; Depienne, Christel; Hartmann, Andreas; Hebebrand, Johannes; Konstantinidis, Anastasios; Mathews, Carol A; Müller-Vahl, Kirsten; Nagy, Peter; Nöthen, Markus M; Paschou, Peristera; Rizzo, Renata; Rouleau, Guy A; Sandor, Paul; Scharf, Jeremiah M; Schlögelhofer, Monika; Stamenkovic, Mara; Stuhrmann, Manfred; Tsetsos, Fotis; Tarnok, Zsanett; Wolanczyk, Tomasz; Worbe, Yulia; Brown, Lawrence; Cheon, Keun-Ah; Coffey, Barbara J; Dietrich, Andrea; Fernandez, Thomas V; Garcia-Delgar, Blanca; Gilbert, Donald; Grice, Dorothy E; Hagstrøm, Julie; Hedderly, Tammy; Heiman, Gary A; Heyman, Isobel; Hoekstra, Pieter J; Huyser, Chaim; Kim, Young Key; Kim, Young-Shin; King, Robert A; Koh, Yun-Joo; Kook, Sodahm; Kuperman, Samuel; Leventhal, Bennett L; Madruga-Garrido, Marcos; Mir, Pablo; Morer, Astrid; Münchau, Alexander; Plessen, Kerstin J; Roessner, Veit; Shin, Eun-Young; Song, Dong-Ho; Song, Jungeun; Tischfield, Jay A; Willsey, A Jeremy; Zinner, Samuel; Aschauer, Harald; Barr, Cathy L; Barta, Csaba; Batterson, James R; Berlin, Cheston; Brown, Lawrence; Budman, Cathy L; Cath, Danielle C; Coffey, Barbara J; Coppola, Giovanni; Cox, Nancy J; Darrow, Sabrina; Davis, Lea K; Depienne, Christel; Dietrich, Andrea; Dion, Yves; Fernandez, Thomas; Freimer, Nelson B; Gilbert, Donald; Grados, Marco A; Greenberg, Erica; Hartmann, Andreas; Hebebrand, Johannes; Heiman, Gary; Hirschtritt, Matthew E; Hoekstra, Pieter; Huang, Alden Y; Illmann, Cornelia; Jankovic, Joseph; King, Robert A; Kuperman, Samuel; Lee, Paul C; Lyon, Gholson J; Malaty, Irene A; Mathews, Carol A; McMahon, William M; Müller-Vahl, Kirsten; Nagy, Peter; Neale, Benjamin M; Nöthen, Markus M; Okun, Michael S; Osiecki, Lisa; Paschou, Peristera; Rizzo, Renata; Robertson, Mary M; Rouleau, Guy A; Sandor, Paul; Scharf, Jeremiah M; Schlögelhofer, Monika; Singer, Harvey S; Stamenkovic, Mara; Stuhrmann, Manfred; Sul, Jae Hoon; Tarnok, Zsanett; Tischfield, Jay; Tsetsos, Fotis; Willsey, A Jeremy; Woods, Douglas; Worbe, Yulia; Yu, Dongmei; Zinner, Samuel

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

对大量北美散发性和家族性额颞叶痴呆病例进行基因筛查

Ramos, Eliana Marisa; Dokuru, Deepika Reddy; Van Berlo, Victoria; Wojta, Kevin; Wang, Qing; Huang, Alden Y; Deverasetty, Sandeep; Qin, Yue; van Blitterswijk, Marka; Jackson, Jazmyne; Appleby, Brian; Bordelon, Yvette; Brannelly, Patrick; Brushaber, Danielle E; Dickerson, Bradford; Dickinson, Susan; Domoto-Reilly, Kimiko; Faber, Kelley; Fields, Julie; Fong, Jamie; Foroud, Tatiana; Forsberg, Leah K; Gavrilova, Ralitza; Ghoshal, Nupur; Goldman, Jill; Graff-Radford, Jonathan; Graff-Radford, Neill; Grant, Ian; Grossman, Murray; Heuer, Hilary W; Hsiung, Ging-Yuek R; Huey, Edward; Irwin, David; Kantarci, Kejal; Karydas, Anna; Kaufer, Daniel; Kerwin, Diana; Knopman, David; Kornak, John; Kramer, Joel H; Kremers, Walter; Kukull, Walter; Litvan, Irene; Ljubenkov, Peter; Lungu, Codrin; Mackenzie, Ian; Mendez, Mario F; Miller, Bruce L; Onyike, Chiadi; Pantelyat, Alexander; Pearlman, Rodney; Petrucelli, Len; Potter, Madeline; Rankin, Katherine P; Rascovsky, Katya; Roberson, Erik D; Rogalski, Emily; Shaw, Leslie; Syrjanen, Jeremy; Tartaglia, Maria Carmela; Tatton, Nadine; Taylor, Joanne; Toga, Arthur; Trojanowski, John Q; Weintraub, Sandra; Wong, Bonnie; Wszolek, Zbigniew; Rademakers, Rosa; Boeve, Brad F; Rosen, Howard J; Boxer, Adam L; Coppola, Giovanni

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

更正:GATAD2B相关神经发育障碍(GAND):对NuRD相关疾病的临床和分子见解

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M Jr; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark