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E

Evan E. Eichler

Howard Hughes Medical Institute
H指数:191
被引数:20.8万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Retroviral insertions contributed to the divergence of human and chimpanzee brains

反转录病毒插入促进了人类和黑猩猩大脑的分化

Science Advances
IF12.5
2026-10-230
OAAI
Patricia Gerdes; Ofelia Karlsson; Raquel Garza; Diahann A. M. Atacho; PingHsun Hsieh; Bharat Prajapati; DongAhn Yoo; Chandramouli Muralidharan; Anita Adami; Carrie Davis-Hansson; Emily M. Johansson; Yogita Sharma; Laura Castilla-Vallmanya; Wiktor West; Meghna Vinod; Lucian Domitrovic; Pia A. Johansson; Jenny Johansson; Christopher H. Douse; Chandrasekhar Kanduri; Patric Jern; Evan E. Eichler; Johan Jakobsson
Human acrocentric chromosome short-arm de novo mutation and recombination

人类近端着丝粒染色体短臂新生突变和重组

Cell
IF42.5
2026-08-060
OAAI
Jiadong Lin; F. Kumara Mastrorosa; Michelle D. Noyes; DongAhn Yoo; Arang Rhie; David Porubsky; Kendra Hoekzema; Katherine M. Munson; Nidhi Koundinya; W. Scott Watkins; Lynn B. Jorde; Aaron R. Quinlan; Deborah W. Neklason; Adam M. Phillippy; Evan E. Eichler
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
Genome Medicine
IF11.2
2026-07-220
OA
Christy W. LaFlamme; Chris Clarkson; Kristina Ibañez; Jin-Yuan Wang; Soham Sengupta; Jenny Lord; Virginia Valentine; Emily S. Bonkowski; Edith P. Almanza Fuerte; Athena R. Olszewski; Sourav Ghosh; Bharati Jadhav; Taralynn Mack; Jiadong Lin; Sophia B. Gibson; Johanna M. van Hagen; Mariëlle Alders; Alexandra Martin-Geary; Bida Gu; Mira Kharbanda; Siddharth Banka; Helen M. Stuart; Andrew R. Webster; Akimoto Hosokawa; Harriet Dashnow; Richa Bajpai; Shondra M. Pruett-Miller; Mark J.P. Chaisson; Danny E. Miller; Nicola Whiffin; Evan E. Eichler; Sanjay M. Sisodiya; Henry Houlden; Andrew J. Sharp; Bekim Sadikovic; Marc Valentine; Lynette G. Sadleir; Arianna Tucci; Heather C. Mefford
Evidence supporting the role of GIGYF2 in synapse development and autism

支持GIGYF2在突触发育和自闭症中作用的证据

Molecular Psychiatry
IF10.1
2026-06-150
PRE
Bin Yu; Shimeng Zhu; Linhu Xiao; Guodong Chen; Suixin Deng; Ziyang Wang; Ruijia Zhuang; Yongqing Lyu; Senwei Tan; Xiangbin Jia; Xinyue Liao; Yang Liao; Xiangyu Li; Ge Zhang; Qiumeng Zhang; Yizheng Jiang; Ting Bai; Pisheng Zhu; Lu Shen; Kendra Hoekzema; Konrad Platzer; Franziska Schnabel; Rami Abou Jamra; Hilde Peeters; Sophie Rondeau; Marlène Rio; Giulia Barcia; Rachel Fisher; Mark C. Hannibal; Olivia L. Kesler; Nathaniel H. Robin; Isabelle Thiffault; Vitoria K. Paolillo; Jonas Helbig; Ling Yuan; Zhengmao Hu; Jiada Li; Jieqiong Tan; Evan E. Eichler; Kun Xia; Hui Guo
A global map for introgressed structural variation and selection in humans

人类中渗入结构变异和选择的全球地图

Science
IF45.8
2026-06-110
PRE
PingHsun Hsieh; Natthapon Soisangwan; David S. Gordon; Athef Javidh; William T. Harvey; David Porubsky; Kendra Hoekzema; Carl Baker; Katherine M. Munson; Christopher Kinipi; Matthew Leavesley; Nicolas Brucato; Murray P. Cox; François‐X Ricaut; Irene Gallego Romero; Evan E. Eichler
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的人群差异对微缺失和倒位的差异化易感性

Nature Communications
IF15.7
2026-04-180
OAAI
David Porubsky; DongAhn Yoo; Nidhi Koundinya; Erika Souche; Philip C. Dishuck; Nicolas Dierckxsens; William T. Harvey; Katherine M. Munson; Kendra Hoekzema; Daniel D. Chan; Tiffany Y. Leung; Marta S. Santos; Senne Meynants; Ann Swillen; Jeroen Breckpot; Vasiliki Tsapalou; Patrick Hasenfeld; Jan O. Korbel; Peter M. Lansdorp; Joris R. Vermeesch; Evan E. Eichler
Using the linear references from the pangenome to discover missing autism variants

使用来自pangenome的线性参考来发现缺失的自闭症变体

Nature Communications
IF15.7
2026-01-230
OA
Yang Sui; Jiadong Lin; Michelle D. Noyes; Youngjun Kwon; Isaac Wong; Nidhi Koundinya; William T. Harvey; Mei Wu; Kendra Hoekzema; Katherine M. Munson; Gage H. Garcia; Jordan Knuth; Julie Wertz; Tianyun Wang; Kelsey Hennick; Druha Karunakaran; Rafael A. Polo Prieto; Rebecca Meyer-Schuman; Fisher Cherry; Davut Pehlivan; Bernhard Suter; Jonas A. Gustafson; Danny E. Miller; Hanna Berk-Rauch; Tomasz J. Nowakowski; Aravinda Chakravarti; Huda Y. Zoghbi; Evan E. Eichler
Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation

片段重复的不完全谱系排序在非洲大猩猩物种形成早期定义了人类染色体2的融合位点

Cell Genomics
IF9
2025-12-020
OAAI
Zikun Yang; Lu Zhang; Xinrui Jiang; Xiangyu Yang; Kaiyue Ma; DongAhn Yoo; Yong Lu; Shilong Zhang; Jieyi Chen; Yanhong Nie; Xinyan Bian; Junmin Han; Lianting Fu; Juan Zhang; Mario Ventura; Guojie Zhang; Qiang Sun; Evan E. Eichler; Yafei Mao
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications
IF15.7
2025-11-260
OA
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
GREGoR: accelerating genomics for rare diseases

GREGoR：加速罕见病基因组学研究

Nature
IF48.5
2025-11-120
PRE
Moez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
Author Correction: Complex genetic variation in nearly complete human genomes

作者更正：近完整人类基因组中的复杂遗传变异

Nature
IF48.5
2025-08-260
OAAI
Glennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
The Platinum Pedigree: a long-read benchmark for genetic variants

铂金血统：一种用于遗传变异的长读基准

Nature Methods
IF32.1
2025-08-040
OA
Zev Kronenberg; Cillian Nolan; David Porubsky; Tom Mokveld; William J. Rowell; Sangjin Lee; Egor Dolzhenko; Pi-Chuan Chang; James M. Holt; Christopher T. Saunders; Nathan D. Olson; Cody J. Steely; Sean McGee; Andrea Guarracino; Nidhi Koundinya; William T. Harvey; W. Scott Watkins; Katherine M. Munson; Kendra Hoekzema; Khi Pin Chua; Xiao Chen; Cairbre Fanslow; Christine Lambert; Harriet Dashnow; Erik Garrison; Joshua D. Smith; Peter M. Lansdorp; Justin M. Zook; Andrew Carroll; Lynn B. Jorde; Deborah W. Neklason; Aaron R. Quinlan; Evan E. Eichler; Michael A. Eberle
Complex genetic variation in nearly complete human genomes

几乎完整的人类基因组中的复杂遗传变异

Nature
IF48.5
2025-07-230
OA
Glennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
The Somatic Mosaicism across Human Tissues Network

人体组织网络中的体细胞镶嵌

Nature
IF48.5
2025-07-020
PRE
Tim H. H. Coorens; Ji Won Oh; Yujin Angelina Choi; Nam Seop Lim; Boxun Zhao; Adam Voshall; Alexej Abyzov; Lucinda Antonacci-Fulton; Samuel Aparicio; Kristin G. Ardlie; Thomas J. Bell; James T. Bennett; Bradley E. Bernstein; Thomas G. Blanchard; Alan P. Boyle; Jason D. Buenrostro; Kathleen H. Burns; Fei Chen; Rui Chen; Sangita Choudhury; Harsha V. Doddapaneni; Evan E. Eichler; Gilad D. Evrony; Melissa A. Faith; Thomas G. Fazzio; Robert S. Fulton; Manuel Garber; Nils Gehlenborg; Soren Germer; Gad Getz; Richard A. Gibbs; Raquel G. Hernandez; Fulai Jin; Jan O. Korbel; Dan A. Landau; Heather A. Lawson; Niall J. Lennon; Heng Li; Yan Li; Po-Ru Loh; Gabor Marth; Michael J. McConnell; Ryan E. Mills; Stephen B. Montgomery; Pradeep Natarajan; Peter J. Park; Rahul Satija; Fritz J. Sedlazeck; Diane D. Shao; Hui Shen; Andrew B. Stergachis; Hunter R. Underhill; Alexander E. Urban; Melissa W. VonDran; Christopher A. Walsh; Ting Wang; Tao P. Wu; Chenghang Zong; Eunjung Alice Lee; Flora M. Vaccarino
Conservation of dichromatin organization along regional centromeres

区域性着丝粒处二染色质的组织结构保守性

CELL GENOMICS
IF9
2025-04-010
OAAI
Dubocanin, Danilo; Hartley, Gabrielle A.; Cortes, Adriana E. Sedeno; Mao, Yizi; Hedouin, Sabrine; Ranchalis, Jane; Agarwal, Aman; Logsdon, Glennis A.; Munson, Katherine M.; Real, Taylor; Mallory, Benjamin J.; Eichler, Evan E.; Biggins, Sue; O'Neill, Rachel J.; Stergachis, Andrew B.
Integrated analysis of the complete sequence of a macaque genome

恒河猴基因组完整序列的整合分析

NATURE
IF48.5
2025-02-261
PRE
Zhang, Shilong; Xu, Ning; Fu, Lianting; Yang, Xiangyu; Ma, Kaiyue; Li, Yamei; Yang, Zikun; Li, Zhengtong; Feng, Yu; Jiang, Xinrui; Han, Junmin; Hu, Ruixing; Zhang, Lu; Lian, Da; de Gennaro, Luciana; Paparella, Annalisa; Ryabov, Fedor; Meng, Dan; He, Yaoxi; Wu, Dongya; Yang, Chentao; Mao, Yuxiang; Bian, Xinyan; Lu, Yong; Antonacci, Francesca; Ventura, Mario; Shepelev, Valery A.; Miga, Karen H.; Alexandrov, Ivan A.; Logsdon, Glennis A.; Phillippy, Adam M.; Su, Bing; Zhang, Guojie; Eichler, Evan E.; Lu, Qing; Shi, Yongyong; Sun, Qiang; Mao, Yafei
Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome

具有双特异性酪氨酸磷酸化调节激酶1A (DYRK1A) 综合征的个体的执行功能和相关行为的特征

FRONTIERS IN NEUROSCIENCE
IF3.2
2025-01-070
OAAI
Rea, Hannah M.; Webb, Sara Jane; Kurtz-Nelson, Evangeline C.; Hudac, Caitlin M.; Bernier, Raphael A.; Miles, Conor; Earl, Rachel; Whiting, Alana; Eayrs, Curtis; Johansson, Margaret; Wang, Tianyun; Eichler, Evan E.; Neuhaus, Emily

研究方向

暂未获取到该数据
R
Raphael Bernier
H 指数:76论文数:837被引数:2.4万
M
Mario Ventura
H 指数:57论文数:175被引数:1.2万
C
Carl Baker
H 指数:56论文数:132被引数:2.3万
K
Katherine M. Munson
H 指数:44论文数:125被引数:1.1万
K
Kendra Hoekzema
H 指数:42论文数:112被引数:8,638
B
Bradley P. Coe
H 指数:57论文数:134被引数:1.9万
H
Heather C. Mefford
H 指数:72论文数:401被引数:2.3万
C
Can Alkan
H 指数:69论文数:231被引数:7.8万
D
David Porubský
H 指数:46论文数:132被引数:1.4万
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.0万