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E

Ellen J. Hoffman

Yale School of Medicine
H指数:23
被引数:4,898

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Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo

神经发育障碍风险基因在体内外转录组和表型趋同

Nature Neuroscience
IF20
2026-04-240
OAAI
Meilin Fernandez Garcia; Kayla Retallick-Townsley; April Pruitt; Elizabeth A. Davidson; Novin Balafkan; Jonathan Warrell; Tzu-Chieh Huang; Alfred Kibowen; Zhiyuan Chu; Yi Dai; Sarah E. Fitzpatrick; Ran Meng; Annabel Sen; Sophie Cohen; Olivia Livoti; Suha Khan; Charlotte Becker; Andre Luiz Teles e Silva; Jenny Liu; Grace Dossou; Jen Cheung; Susanna Liu; Sadaf Ghorbani; P. J. Michael Deans; Marisa DeCiucis; Prashant Emani; Huanyao Gao; Hongying Shen; Mark Gerstein; Zuoheng Wang; Laura M. Huckins; Ellen J. Hoffman; Kristen Brennand
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2024-06-251
PRE
DeSpenza Jr, Tyrone; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L.; Desmet, Nicole; Dang, Huy Q.; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y.; Dennis, Evan; Mehta, Neel H.; Duy, Phan Q.; Shimelis, Hermela; Walsh, Lauren K.; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M. R.; Constable, R. Todd; Hoffman, Ellen J.; Lifton, Richard P.; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L.; Jin, Sheng Chih; Kahle, Kristopher T.; Luikart, Bryan W.
High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
CELL REPORTS
IF6.9
2023-03-0116
OAAI
Mendes, Hellen Weinschutz; Neelakantan, Uma; Liu, Yunqing; Fitzpatrick, Sarah E.; Chen, Tianying; Wu, Weimiao; Pruitt, April; Jin, David S.; Jamadagni, Priyanka; Carlson, Marina; Lacadie, Cheryl M.; Enriquez, Kristen D.; Li, Ningshan; Zhao, Dejian; Ijaz, Sundas; Sakai, Catalina; Szi, Christina; Rooney, Brendan; Ghosh, Marcus; Nwabudike, Ijeoma; Gorodezky, Andrea; Chowdhury, Sumedha; Zaheer, Meeraal; McLaughlin, Sarah; Fernandez, Joseph M.; Wu, Jia; Eilbott, Jeffrey A.; Vander Wyk, Brent; Rihel, Jason; Papademetris, Xenophon; Wang, Zuoheng; Hoffman, Ellen J.
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
NATURE MEDICINE
IF50
2020-10-19100
OAAI
Jin, Sheng Chih; Dong, Weilai; Kundishora, Adam J.; Panchagnula, Shreyas; Moreno-De-Luca, Andres; Furey, Charuta G.; Allocco, August A.; Walker, Rebecca L.; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra; Lu, Qiongshi; Zeng, Xue; Sierant, Michael C.; Knight, James R.; Sullivan, William; Duy, Phan Q.; DeSpenza, Tyrone; Reeves, Benjamin C.; Karimy, Jason K.; Marlier, Arnaud; Castaldi, Christopher; Tikhonova, Irina R.; Li, Boyang; Pena, Helena Perez; Broach, James R.; Kabachelor, Edith M.; Ssenyonga, Peter; Hehnly, Christine; Ge, Li; Keren, Boris; Timberlake, Andrew T.; Goto, June; Mangano, Francesco T.; Johnston, James M.; Butler, William E.; Warf, Benjamin C.; Smith, Edward R.; Schiff, Steven J.; Limbrick, David D., Jr.; Heuer, Gregory; Jackson, Eric M.; Iskandar, Bermans J.; Mane, Shrikant; Haider, Shozeb; Guclu, Bulent; Bayri, Yasar; Sahin, Yener; Duncan, Charles C.; Apuzzo, Michael L. J.; DiLuna, Michael L.; Hoffman, Ellen J.; Sestan, Nenad; Ment, Laura R.; Alper, Seth L.; Bilguvar, Kaya; Geschwind, Daniel H.; Gunel, Murat; Lifton, Richard P.; Kahle, Kristopher T.
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism
BIOLOGICAL PSYCHIATRY
IF9
2020-06-0161
OAAI
Cappi, Carolina; Oliphant, Melody E.; Peter, Zsanett; Zai, Gwyneth; do Rosario, Maria Conceicao; Sullivan, Catherine A. W.; Gupta, Abha R.; Hoffman, Ellen J.; Virdee, Manmeet; Olfson, Emily; Abdallah, Sarah B.; Willsey, A. Jeremy; Shavitt, Roseli G.; Miguel, Euripedes C.; Kennedy, James L.; Richter, Margaret A.; Fernandez, Thomas V.

研究方向

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M
Matthew W. State
H 指数:90论文数:264被引数:4.7万
D
Devanand S. Manoli
H 指数:17论文数:52被引数:2,145
S
Sundas Ijaz
H 指数:6论文数:18被引数:593
J
Jason Rihel
H 指数:32论文数:102被引数:6,835
M
Marcus Ghosh
H 指数:10论文数:34被引数:1,184
K
Kristopher T. Kahle
H 指数:69论文数:366被引数:1.8万
S
Sheng Chih Jin
H 指数:38论文数:173被引数:8,328
A
Abha R. Gupta
H 指数:29论文数:297被引数:8,330
A
Antonio J. Giráldez
H 指数:46论文数:104被引数:1.5万
P
Phan Q. Duy
H 指数:25论文数:95被引数:2,097