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Evan E. Eichler

University of Washington School of Medicine

191H-index
864Paper Count
20.8WCitation Count
Published Papers 374
Publication Date
Human acrocentric chromosome short-arm de novo mutation and recombination
errCell
IF42.5
err2026-08-06
err0
errOAAI
errJiadong 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
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Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
err2026-07-22
err0
errOAAI
errChristy 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
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Evidence supporting the role of GIGYF2 in synapse development and autism
err2026-06-15
err0
PREAI
errBin 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
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A global map for introgressed structural variation and selection in humans
errScience
IF45.8
err2026-06-11
err0
PREAI
errPingHsun 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
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Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion
err2026-04-18
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errOAAI
errDavid 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
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Using the linear references from the pangenome to discover missing autism variants
err2026-01-23
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errOAAI
errYang 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
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Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
err2025-12-02
err0
errOAAI
errZikun 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
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
err2025-11-26
err0
errOAAI
errSébastien 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
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GREGoR: accelerating genomics for rare diseases
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez 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
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Locityper enables targeted genotyping of complex polymorphic genes
err2025-10-17
err0
errOAAI
errTimofey Prodanov; Elizabeth G. Plender; Guiscard Seebohm; Sven G. Meuth; Evan E. Eichler; Tobias Marschall
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Author Correction: Complex genetic variation in nearly complete human genomes
errNature
IF48.5
err2025-08-26
err0
errOAAI
errGlennis 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
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Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
err2025-08-22
err0
errOAAI
errPhilip C. Dishuck; Katherine M. Munson; Alexandra P. Lewis; Max L. Dougherty; Jason G. Underwood; William T. Harvey; PingHsun Hsieh; Tomi Pastinen; Evan E. Eichler
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The Platinum Pedigree: a long-read benchmark for genetic variants
err2025-08-04
err0
errOAAI
errZev 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
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Complex genetic variation in nearly complete human genomes
errNature
IF48.5
err2025-07-23
err0
errOAAI
errGlennis 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
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The Somatic Mosaicism across Human Tissues Network
errNature
IF48.5
err2025-07-02
err0
PREAI
errTim 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
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A near telomere-to-telomere phased reference assembly for the male mountain gorilla
err2025-05-22
err0
errOAAI
errNelson, David R.; Muvunyi, Richard; Hazzouri, Khaled M.; Tumushime, Jean-Claude; Nzayisenga, Gaspard; Julius, Nziza; Meert, Wim; Karim, Latifa; Coppieters, Wouter; Munson, Katherine M.; Yoo, DongAhn; Eichler, Evan E.; Salehi-Ashtiani, Kourosh; Twizere, Jean-Claude
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Conservation of dichromatin organization along regional centromeres
err2025-04-01
err0
errOAAI
errDubocanin, 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.
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Integrated analysis of the complete sequence of a macaque genome
errNATURE
IF48.5
err2025-02-26
err1
PREAI
errZhang, 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
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Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome
err2025-01-07
err0
errOAAI
errRea, 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
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Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society
err2025-01-05
err0
errOAAI
errFlores-Aguilar, Lisi; Hamlett, Eric D.; Araya, Paula; Barone, Eugenio; Bhattacharyya, Anita; Carmona-Iragui, Maria; Chan, Li; Christian, Brad; Costa, Alberto C. S.; Costanzo, Floriana; Del Hoyo Soriano, Laura; Dierssen, Mara; Eichler, Evan E.; Fisher, Elizabeth; Galbraith, Matthew; Ghosh, Sujay; Gimenez, Sandra; Guedj, Faycal; Guidi, Sandra; Iulita, Maria Florencia; Mobley, William; Pelleri, Maria Chiara; Potier, Marie-Claude; Rabin, Karen R.; Rachubinski, Angela; Rebillat, Anne-Sophie; Rubenstein, Eric; Saternos, Hannah; Sordo, Lorena; Strydom, Andre; Valle-Tamayo, Natalia; Waugh, Katherine A.; Yu, Eugene; Zeldich, Ella; Busciglio, Jorge; Head, Elizabeth
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