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K

Katherine M. Munson

university of washington school of medicine
H指数:44
被引数:1.1万

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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

利用IsoRanker进行长读长转录组分析以识别单基因疾病中的致病变异

American Journal of Human Genetics
IF8.1
2026-08-250
PRE
Yong-Han Hank Cheng; Adriana E. Sedeño-Cortés; Jane E. Ranchalis; Katherine M. Munson; Mitchell R. Vollger; Elsa Balton; Casie A. Genetti; Jenny L. Wilson; Monica H. Wojcik; Alan H. Beggs; Michael J. Bamshad; Chia-Lin Wei; Katrina M. Dipple; Runjun D. Kumar; Mark D. Fleming; Ian A. Glass; Elizabeth E. Blue; Gail Jarvik; Jessica X. Chong; Daniela M. Witten
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
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
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
Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery

近完整的中东基因组精化了自交同型性分析，并增强了致病变异和人群特异性变异的发现。

NATURE GENETICS
IF0
2025-05-050
OA
Ghorbani, Mohammadmersad; Moosa, Shabir; Siddig, Zenab; Farhad, Radi; Naeem, Haroon; Harvey, William T.; Mastrorosa, Francesco Kumara; Munson, Katherine M.; Razali, Rozaimi Mohamad; Aliyev, Elbay; Diboun, Ilhame; Abouelhassan, Rawan; Tauro, Melissa; Hassan, Sondoss; Mathew, Rebecca; Al Hashmi, Muna; Mathew, Lisa S.; Wang, Kun; Salhab, Abdul Rahman; Vempalli, Fazulur Rehaman; El Khouly, Ahmed; Alazwani, Iman; Tomei, Sara; Fakhro, Khalid A.; Satti, Alia; Benini, Ruba; Rhie, Arang; Eichler, Evan E.; Mokrab, Younes
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.
The complete sequence and comparative analysis of ape sex chromosomes
Nature
IF48.5
2024-05-290
OAAI
Kateryna D. Makova; Brandon D. Pickett; Robert S. Harris; Gabrielle A. Hartley; Monika Cechova; Karol Pal; Sergey Nurk; DongAhn Yoo; Qiuhui Li; Prajna Hebbar; Barbara C. McGrath; Francesca Antonacci; Margaux Aubel; Arjun Biddanda; Matthew Borchers; Erich Bornberg-Bauer; Gerard G. Bouffard; Shelise Y. Brooks; Lucia Carbone; Laura Carrel; Andrew Carroll; Pi-Chuan Chang; Chen-Shan Chin; Daniel E. Cook; Sarah J. C. Craig; Luciana de Gennaro; Mark Diekhans; Amalia Dutra; Gage H. Garcia; Patrick G. S. Grady; Richard E. Green; Diana Haddad; Pille Hallast; William T. Harvey; Glenn Hickey; David A. Hillis; Savannah J. Hoyt; Hyeonsoo Jeong; Kaivan Kamali; Sergei L. Kosakovsky Pond; Troy M. LaPolice; Charles Lee; Alexandra P. Lewis; Yong-Hwee E. Loh; Patrick Masterson; Kelly M. McGarvey; Rajiv C. McCoy; Paul Medvedev; Karen H. Miga; Katherine M. Munson; Evgenia Pak; Benedict Paten; Brendan J. Pinto; Tamara Potapova; Arang Rhie; Joana L. Rocha; Fedor Ryabov; Oliver A. Ryder; Samuel Sacco; Kishwar Shafin; Valery A. Shepelev; Viviane Slon; Steven J. Solar; Jessica M. Storer; Peter H. Sudmant; Sweetalana; Alex Sweeten; Michael G. Tassia; Françoise Thibaud-Nissen; Mario Ventura; Melissa A. Wilson; Alice C. Young; Huiqing Zeng; Xinru Zhang; Zachary A. Szpiech; Christian D. Huber; Jennifer L. Gerton; Soojin V. Yi; Michael C. Schatz; Ivan A. Alexandrov; Sergey Koren; Rachel J. O’Neill; Evan E. Eichler; Adam M. Phillippy
The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Nature
IF48.5
2024-04-030
OAAI
Glennis A. Logsdon; Allison N. Rozanski; Fedor Ryabov; Tamara Potapova; Valery A. Shepelev; Claudia R. Catacchio; David Porubsky; Yafei Mao; DongAhn Yoo; Mikko Rautiainen; Sergey Koren; Sergey Nurk; Julian K. Lucas; Kendra Hoekzema; Katherine M. Munson; Jennifer L. Gerton; Adam M. Phillippy; Mario Ventura; Ivan A. Alexandrov; Evan E. Eichler

研究方向

暂未获取到该数据
E
Evan E. Eichler
H 指数:191论文数:877被引数:20.8万
D
David Porubský
H 指数:46论文数:132被引数:1.4万
K
Kendra Hoekzema
H 指数:42论文数:112被引数:8,678
W
William T. Harvey
H 指数:28论文数:77被引数:6,846
T
Tobias Marschall
H 指数:56论文数:244被引数:2.1万
M
Mitchell R. Vollger
H 指数:37论文数:102被引数:1.3万
S
Sergey Koren
H 指数:87论文数:323被引数:7.2万
A
Adam M. Phillippy
H 指数:94论文数:353被引数:7.7万
J
Jan O. Korbel
H 指数:117论文数:453被引数:11.5万
A
Arvis Sulovari
H 指数:26论文数:62被引数:4,513