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

The contributions of rare inherited and polygenic risk to ASD in multiplex families

罕见遗传和多基因风险对多重家族自闭症谱系障碍的影响

Cirnigliaro, Matilde; Chang, Timothy S; Arteaga, Stephanie A; Pérez-Cano, Laura; Ruzzo, Elizabeth K; Gordon, Aaron; Bicks, Lucy K; Jung, Jae-Yoon; Lowe, Jennifer K; Wall, Dennis P; Geschwind, Daniel H

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

妊娠中期人类新皮层发育的单细胞转录组图谱

Polioudakis, Damon; de la Torre-Ubieta, Luis; Langerman, Justin; Elkins, Andrew G; Shi, Xu; Stein, Jason L; Vuong, Celine K; Nichterwitz, Susanne; Gevorgian, Melinda; Opland, Carli K; Lu, Daning; Connell, William; Ruzzo, Elizabeth K; Lowe, Jennifer K; Hadzic, Tarik; Hinz, Flora I; Sabri, Shan; Lowry, William E; Gerstein, Mark B; Plath, Kathrin; Geschwind, Daniel H

Schizophrenia genetics complements its mechanistic understanding

精神分裂症遗传学是对其机制理解的补充。

Ruzzo, Elizabeth K; Geschwind, Daniel H

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

未确诊遗传疾病的全外显子组测序:解读119个三联体

Zhu, Xiaolin; Petrovski, Slavé; Xie, Pingxing; Ruzzo, Elizabeth K; Lu, Yi-Fan; McSweeney, K Melodi; Ben-Zeev, Bruria; Nissenkorn, Andreea; Anikster, Yair; Oz-Levi, Danit; Dhindsa, Ryan S; Hitomi, Yuki; Schoch, Kelly; Spillmann, Rebecca C; Heimer, Gali; Marek-Yagel, Dina; Tzadok, Michal; Han, Yujun; Worley, Gordon; Goldstein, Jennifer; Jiang, Yong-Hui; Lancet, Doron; Pras, Elon; Shashi, Vandana; McHale, Duncan; Need, Anna C; Goldstein, David B

De novo mutations in epileptic encephalopathies

癫痫性脑病中的新生突变

Allen, Andrew S; Berkovic, Samuel F; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E; Epstein, Michael P; Glauser, Tracy; Goldstein, David B; Han, Yujun; Heinzen, Erin L; Hitomi, Yuki; Howell, Katherine B; Johnson, Michael R; Kuzniecky, Ruben; Lowenstein, Daniel H; Lu, Yi-Fan; Madou, Maura R Z; Marson, Anthony G; Mefford, Heather C; Esmaeeli Nieh, Sahar; O'Brien, Terence J; Ottman, Ruth; Petrovski, Slavé; Poduri, Annapurna; Ruzzo, Elizabeth K; Scheffer, Ingrid E; Sherr, Elliott H; Yuskaitis, Christopher J; Abou-Khalil, Bassel; Alldredge, Brian K; Bautista, Jocelyn F; Berkovic, Samuel F; Boro, Alex; Cascino, Gregory D; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P; Fiol, Miguel; Fountain, Nathan B; French, Jacqueline; Friedman, Daniel; Geller, Eric B; Glauser, Tracy; Glynn, Simon; Haut, Sheryl R; Hayward, Jean; Helmers, Sandra L; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E; Knowlton, Robert C; Kossoff, Eric H; Kuperman, Rachel; Kuzniecky, Ruben; Lowenstein, Daniel H; McGuire, Shannon M; Motika, Paul V; Novotny, Edward J; Ottman, Ruth; Paolicchi, Juliann M; Parent, Jack M; Park, Kristen; Poduri, Annapurna; Scheffer, Ingrid E; Shellhaas, Renée A; Sherr, Elliott H; Shih, Jerry J; Singh, Rani; Sirven, Joseph; Smith, Michael C; Sullivan, Joseph; Lin Thio, Liu; Venkat, Anu; Vining, Eileen P G; Von Allmen, Gretchen K; Weisenberg, Judith L; Widdess-Walsh, Peter; Winawer, Melodie R

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

天冬酰胺合成酶缺乏会导致先天性小头畸形和进行性脑病。

Ruzzo, Elizabeth K; Capo-Chichi, José-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Décarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J; Dobrzeniecka, Sylvia; Islam, Mohammad S; Hasnat, Abul; Samuels, Mark E; Aryal, Dipendra K; Rodriguiz, Ramona M; Jiang, Yong-Hui; Wetsel, William C; McNamara, James O; Rouleau, Guy A; Silver, Debra L; Lancet, Doron; Pras, Elon; Mitchell, Grant A; Michaud, Jacques L; Goldstein, David B

Modifier genetics in neuropsychiatric disease: challenges and opportunities

神经精神疾病中的修饰基因遗传学:挑战与机遇

Ruzzo, Elizabeth K; Pappas, Andrea L; Goldstein, David B

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

外显子组测序结合大规模基因分型未能识别出特发性全身性癫痫中具有显著影响的单个罕见变异。

Heinzen, Erin L; Depondt, Chantal; Cavalleri, Gianpiero L; Ruzzo, Elizabeth K; Walley, Nicole M; Need, Anna C; Ge, Dongliang; He, Min; Cirulli, Elizabeth T; Zhao, Qian; Cronin, Kenneth D; Gumbs, Curtis E; Campbell, C Ryan; Hong, Linda K; Maia, Jessica M; Shianna, Kevin V; McCormack, Mark; Radtke, Rodney A; O'Conner, Gerard D; Mikati, Mohamad A; Gallentine, William B; Husain, Aatif M; Sinha, Saurabh R; Chinthapalli, Krishna; Puranam, Ram S; McNamara, James O; Ottman, Ruth; Sisodiya, Sanjay M; Delanty, Norman; Goldstein, David B

Using ERDS to infer copy-number variants in high-coverage genomes

利用ERDS推断高覆盖度基因组中的拷贝数变异

Zhu, Mingfu; Need, Anna C; Han, Yujun; Ge, Dongliang; Maia, Jessica M; Zhu, Qianqian; Heinzen, Erin L; Cirulli, Elizabeth T; Pelak, Kimberly; He, Min; Ruzzo, Elizabeth K; Gumbs, Curtis; Singh, Abanish; Feng, Sheng; Shianna, Kevin V; Goldstein, David B

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

TECPR2基因突变揭示了自噬在遗传性痉挛性截瘫中的作用

Oz-Levi, Danit; Ben-Zeev, Bruria; Ruzzo, Elizabeth K; Hitomi, Yuki; Gelman, Amir; Pelak, Kimberly; Anikster, Yair; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Olender, Tsviya; Alkelai, Anna; Weiss, Meira; Ben-Asher, Edna; Ge, Dongliang; Shianna, Kevin V; Elazar, Zvulun; Goldstein, David B; Pras, Elon; Lancet, Doron