Kendra Hoekzema - Publications, H-index & Citations

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Kendra Hoekzema

University of Washington School of Medicine

42H-index

112Paper Count

8.6KCitation Count

Published Papers 40

Publication Date

Human acrocentric chromosome short-arm de novo mutation and recombination

Cell

IF42.5

2026-08-06

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

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A global map for introgressed structural variation and selection in humans

Science

IF45.8

2026-06-11

PREAI

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

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Author Correction: Complex genetic variation in nearly complete human genomes

Nature

IF48.5

2025-08-26

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

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The Platinum Pedigree: a long-read benchmark for genetic variants

Nature Methods

IF32.1

2025-08-04

OAAI

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

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Complex genetic variation in nearly complete human genomes

Nature

IF48.5

2025-07-23

OAAI

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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

GENOME RESEARCH

IF5.5

2024-10-02

PREAI

Gustafson, Jonas A.; Gibson, Sophia B.; Damaraju, Nikhita; Zalusky, Miranda P. G.; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A.; Richmond, Phillip A.; De Coster, Wouter; Olson, Nathan D.; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L.; Goffena, Joy; Anderson, Zachary B.; Storz, Sophie H. R.; Ward, Sydney A.; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E.; Basile, Anna O.; Corvelo, Andre; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E.; Paschal, Cate R.; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D.; Robb, Esther; McCombie, William Richard; Sedlazeck, Fritz J.; Zook, Justin M.; Montgomery, Stephen B.; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C.; McLaughlin Jr, Richard N.; Dashnow, Harriet; Zody, Michael C.; Loose, Matt; Jain, Miten; Eichler, Evan E.; Miller, Danny E.

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Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

GENOME RESEARCH

IF5.5

2024-08-06

OAAI

Guitart, Xavi; Porubsky, David; Yoo, Dongahn; Dougherty, Max L.; Dishuck, Philip C.; Munson, Katherine M.; Lewis, Alexandra P.; Hoekzema, Kendra; Knuth, Jordan; Chang, Stephen; Pastinen, Tomi; Eichler, Evan E.

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Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms

MOLECULAR AUTISM

IF5.5

2024-05-25

OAAI

Courchesne, Eric; Taluja, Vani; Nazari, Sanaz; Aamodt, Caitlin M.; Pierce, Karen; Duan, Kuaikuai; Stophaeros, Sunny; Lopez, Linda; Barnes, Cynthia Carter; Troxel, Jaden; Campbell, Kathleen; Wang, Tianyun; Hoekzema, Kendra; Eichler, Evan E.; Nani, Joao V.; Pontes, Wirla; Sanchez, Sandra Sanchez; Lombardo, Michael V.; de Souza, Janaina S.; Hayashi, Mirian A. F.; Muotri, Alysson R.

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Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

GENOME RESEARCH

IF5.5

2023-12-07

OAAI

Harvey, William T.; Ebert, Peter; Ebler, Jana; Audano, Peter A.; Munson, Katherine M.; Hoekzema, Kendra; Porubsky, David; Beck, Christine R.; Marschall, Tobias; Garimella, Kiran; Eichler, Evan E.

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Pangenome graph construction from genome alignments with Minigraph-Cactus

NATURE BIOTECHNOLOGY

IF41.7

2023-05-10

OAAI

Hickey, Glenn; Monlong, Jean; Ebler, Jana; Novak, Adam M.; Eizenga, Jordan M.; Gao, Yan; Marschall, Tobias; Li, Heng; Paten, Benedict; Abel, Haley J.; Antonacci-Fulton, Lucinda L.; Asri, Mobin; Baid, Gunjan; Baker, Carl A.; Belyaeva, Anastasiya; Billis, Konstantinos; Bourque, Guillaume; Buonaiuto, Silvia; Carroll, Andrew; Chaisson, Mark J. P.; Chang, Pi-Chuan; Chang, Xian H.; Cheng, Haoyu; Chu, Justin; Cody, Sarah; Colonna, Vincenza; Cook, Daniel E.; Cook-Deegan, Robert M.; Cornejo, Omar E.; Diekhans, Mark; Doerr, Daniel; Ebert, Peter; Ebler, Jana; Eichler, Evan E.; Eizenga, Jordan M.; Fairley, Susan; Fedrigo, Olivier; Felsenfeld, Adam L.; Feng, Xiaowen; Fischer, Christian; Flicek, Paul; Formenti, Giulio; Frankish, Adam; Fulton, Robert S.; Gao, Yan; Garg, Shilpa; Garrison, Erik; Garrison, Nanibaa' A.; Giron, Carlos Garcia; Green, Richard E.; Groza, Cristian; Guarracino, Andrea; Haggerty, Leanne; Hall, Ira M.; Harvey, William T.; Haukness, Marina; Haussler, David; Heumos, Simon; Hickey, Glenn; Hoekzema, Kendra; Hourlier, Thibaut; Howe, Kerstin; Jain, Miten; Jarvis, Erich D.; Ji, Hanlee P.; Kenny, Eimear E.; Koenig, Barbara A.; Kolesnikov, Alexey; Korbel, Jan O.; Kordosky, Jennifer; Koren, Sergey; Lee, HoJoon; Lewis, Alexandra P.; Liao, Wen-Wei; Lu, Shuangjia; Lu, Tsung-Yu; Lucas, Julian K.; Hugo, Magalhaes; Santiago, Marco-Sola; Marijon, Pierre; Markello, Charles; Marschall, Tobias; Martin, Fergal J.; McCartney, Ann; McDaniel, Jennifer; Miga, Karen H.; Mitchell, Matthew W.; Monlong, Jean; Mountcastle, Jacquelyn; Munson, Katherine M.; Mwaniki, Moses Njagi; Nattestad, Maria; Novak, Adam M.; Nurk, Sergey; Olsen, Hugh E.; Olson, Nathan D.; Pesout, Trevor; Phillippy, Adam M.; Popejoy, Alice B.; Porubsky, David; Prins, Pjotr; Puiu, Daniela; Rautiainen, Mikko; Regier, Allison A.; Rhie, Arang; Sacco, Samuel; Sanders, Ashley D.; Schneider, Valerie A.; Schultz, Baergen, I; Shafin, Kishwar; Sibbesen, Jonas A.; Siren, Jouni; Smith, Michael W.; Sofia, Heidi J.; Abou Tayoun, Ahmad N.; Thibaud-Nissen, Francoise; Tomlinson, Chad; Tricomi, Francesca Floriana; Villani, Flavia; Vollger, Mitchell R.; Wagner, Justin; Walenz, Brian; Wang, Ting; Wood, Jonathan M. D.; Zimin, Aleksey, V; Zook, Justin M.

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A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years

MOLECULAR PSYCHIATRY

IF10.1

2022-10-20

OAAI

Bao, Bokan; Zahiri, Javad; Gazestani, Vahid H.; Lopez, Linda; Xiao, Yaqiong; Kim, Raphael; Wen, Teresa H.; Chiang, Austin W. T.; Nalabolu, Srinivasa; Pierce, Karen; Robasky, Kimberly; Wang, Tianyun; Hoekzema, Kendra; Eichler, Evan E.; Lewis, Nathan E.; Courchesne, Eric

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GIGYF1 disruption associates with autism and impaired IGF-1R signaling

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2022-10-03

OAAI

Chen, Guodong; Yu, Bin; Tan, Senwei; Tan, Jieqiong; Jia, Xiangbin; Zhang, Qiumeng; Zhang, Xiaolei; Jiang, Qian; Hua, Yue; Han, Yaoling; Luo, Shengjie; Hoekzema, Kendra; Bernier, Raphael A.; Earl, Rachel K.; Kurtz-Nelson, Evangeline C.; Idleburg, Michaela J.; Madan-Khetarpal, Suneeta; Clark, Rebecca; Sebastian, Jessica; Fernandez-Jaen, Alberto; Alvarez, Sara; King, Staci D.; Ramos, Luiza L. P.; Santos, Mara Lucia S. F.; Martin, Donna M.; Brooks, Dan; Symonds, Joseph D.; Cutcutache, Ioana; Pan, Qian; Hu, Zhengmao; Yuan, Ling; Eichler, Evan E.; Xia, Kun; Guo, Hui

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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

SCIENCE ADVANCES

IF12.5

2022-08-19

OAAI

Jia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J.; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; McMillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A.; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G.; Morrow, Michelle M.; Eichler, Evan E.; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, Hui

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Familial long-read sequencing increases yield of de novo mutations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-04-01

OAAI

Noyes, Michelle D.; Harvey, William T.; Porubsky, David; Sulovari, Arvis; Li, Ruiyang; Rose, Nicholas R.; Audano, Peter A.; Munson, Katherine M.; Lewis, Alexandra P.; Hoekzema, Kendra; Mantere, Tuomo; Graves-Lindsay, Tina A.; Sanders, Ashley D.; Goodwin, Sara; Kramer, Melissa; Mokrab, Younes; Zody, Michael C.; Hoischen, Alexander; Korbel, Jan O.; McCombie, W. Richard; Eichler, Evan E.

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Alpha Satellite Insertion Close to an Ancestral Centromeric Region

MOLECULAR BIOLOGY AND EVOLUTION

IF5.3

2021-08-31

OAAI

Giannuzzi, Giuliana; Logsdon, Glennis A.; Chatron, Nicolas; Miller, Danny E.; Reversat, Julie; Munson, Katherine M.; Hoekzema, Kendra; Bonnet-Dupeyron, Marie-Noelle; Rollat-Farnier, Pierre-Antoine; Baker, Carl A.; Sanlaville, Damien; Eichler, Evan E.; Schluth-Bolard, Caroline; Reymond, Alexandre

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Targeted long-read sequencing identifies missing disease-causing variation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-08-01

137

OAAI

Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E.

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Recent ultra-rare inherited variants implicate new autism candidate risk genes

NATURE GENETICS

IF31.8

2021-07-26

OAAI

Wilfert, Amy B.; Turner, Tychele N.; Murali, Shwetha C.; Hsieh, PingHsun; Sulovari, Arvis; Wang, Tianyun; Coe, Bradley P.; Guo, Hui; Hoekzema, Kendra; Bakken, Trygve E.; Winterkorn, Lara H.; Evani, Uday S.; Byrska-Bishop, Marta; Earl, Rachel K.; Bernier, Raphael A.; Zody, Michael C.; Eichler, Evan E.

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Accelerated Diversification Explains the Exceptional Species Richness of Tropical Characoid Fishes

SYSTEMATIC BIOLOGY

IF5.7

2021-06-07

OAAI

Melo, Bruno F.; Sidlauskas, Brian L.; Near, Thomas J.; Roxo, Fabio F.; Ghezelayagh, Ava; Ochoa, Luz E.; Stiassny, Melanie L. J.; Arroyave, Jairo; Chang, Jonathan; Faircloth, Brant C.; MacGuigan, Daniel J.; Harrington, Richard C.; Benine, Ricardo C.; Burns, Michael D.; Hoekzema, Kendra; Sanches, Natalia C.; Maldonado-Ocampo, Javier A.; Castro, Ricardo M. C.; Foresti, Fausto; Alfaro, Michael E.; Oliveira, Claudio

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-11-01

OAAI

Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

NATURE COMMUNICATIONS

IF15.7

2020-10-21

OAAI

Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.

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Research Directions