Michael J Bamshad (Michael Bamshad)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 22

Top Topics

Polycystic Kidney Disease

Top Venues

bioRxiv : the preprint server for biology

medRxiv : the preprint server for health sciences

Hepatology (Baltimore, Md.)

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda Pg Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, null null, Jessica Xiao-Ling Chong, Michael J Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease. medRxiv : the preprint server for health sciences (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jaclyn R Stonebraker, Rhonda G Pace, Paul J Gallins, Hong Dang, Melis A Aksit, Anna V Faino, William W Gordon, Sonya MacParland, Michael J Bamshad, Ronald L Gibson, Garry R Cutting, Peter R Durie, Fred A Wright, Yi-Hui Zhou, Scott M Blackman, Wanda K O'Neal, Simon C Ling, Michael R Knowles
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis. Hepatology (Baltimore, Md.) (2024)
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda Galey, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, null null, Jessica Xiao-Ling Chong, Michael J Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease. medRxiv : the preprint server for health sciences (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jaclyn R Stonebraker, Rhonda G Pace, Paul J Gallins, Hong Dang, Melis A Aksit, Anna V Faino, William W Gordon, Sonya MacParland, Michael J Bamshad, Ronald L Gibson, Garry R Cutting, Peter R Durie, Fred A Wright, Yi-Hui Zhou, Scott M Blackman, Wanda K O'Neal, Simon C Ling, Michael R Knowles
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis. Hepatology (Baltimore, Md.) (2024)
Burcin Morali, Valancy Miranda, John Raelson, Guy Grimard, Peter Glavas, Francois Audibert, Nicolas A Dumont, Julia Barone, Michael J Bamshad, Emmanuelle Lemyre, Philippe M Campeau
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis. Clinical genetics (2024)
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda Pg Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, null null, Jessica Xiao-Ling Chong, Michael J Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease. medRxiv : the preprint server for health sciences (2024)
Burcin Morali, Valancy Miranda, John Raelson, Guy Grimard, Peter Glavas, Francois Audibert, Nicolas A Dumont, Julia Barone, Michael J Bamshad, Emmanuelle Lemyre, Philippe M Campeau
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis. Clinical genetics 106 (4) (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott G Swanson, Jason G Underwood, Yong-Han Hank Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E Blue, Ulrike Schwarze, Katherine M Munson, Christopher T Saunders, Aaron M Wenger, Aimee Allworth, Sirisak Chanprasert, Brittney L Duerden, Ian Glass, Martha Horike-Pyne, Michelle Kim, Kathleen A Leppig, Ian J McLaughlin, Jessica Ogawa, Elisabeth A Rosenthal, Sam Sheppeard, Stephanie M Sherman, Samuel Strohbehn, Amy L Yuen, null null, null null, Thomas A Reh, Peter H Byers, Michael J Bamshad, Fuki M Hisama, Gail P Jarvik, Yasemin Sancak, Katrina M Dipple, Andrew Ben Stergachis
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. bioRxiv : the preprint server for biology (2023)
Jessica Xiao-Ling Chong, Matthew Carter Childers, Colby T Marvin, Anthony J Marcello, Hernan D Gonorazky, Lili-Naz Hazrati, James J Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Ángel Marín Gabriel, Arthur S Aylsworth, Kati J Buckingham, Kathryn M Shively, Olivia Sommers, Kailyn Anderson, null null, null null, Michael Regnier, Michael J Bamshad
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. medRxiv : the preprint server for health sciences (2023)
Andrew Ben Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B Folta, Ian Glass, Martha Horike-Pyne, Alden Y Huang, Alyna T Khan, Kathleen A Leppig, Danny E Miller, Ghayda Mirzaa, Azma Parhin, Wendy H Raskind, Elisabeth A Rosenthal, Sam Sheppeard, Samuel Strohbehn, Virginia P Sybert, Thao T Tran, Mark H Wener, null null, Peter H H Byers, Stanley F Nelson, Michael J Bamshad, Katrina M Dipple, David L Veenstra, Suzanne Hoppins, Fuki M Hisama
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. Neurology. Genetics 9 (5) (2023)
Clara C Hildebrandt, Nisha Patel, John M Graham, Michael J Bamshad, Deborah A Nickerson, Janson J White, Colby T Marvin, Danny E Miller, null null, Katheryn L Grand, Pedro A Sanchez-Lara, Daniela Schweitzer, Hamad I Al-Zaidan, Zainab Al Masseri, Fowzan Sami Alkuraya, Angela E Lin
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. American journal of medical genetics. Part A 185 (7) (2021)
Michael J Bamshad, Pilar L Magoulas, Karin M Dent
Genetic counselors on the frontline of precision health. American journal of medical genetics. Part C, Seminars in medical genetics 178 (1) (2018)
Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud M Elfiky, Jay M Wilson, Debbie Nickerson, Michael J Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS genetics 14 (12) (2018)
Romel D Mackelprang, Michael J Bamshad, Jessica Xiao-Ling Chong, Xuanlin Hou, Kati J Buckingham, Kathryn Shively, Guy deBruyn, Nelly R Mugo, James I Mullins, M Juliana McElrath, Jared M Baeten, Connie Celum, Mary J Emond, Jairam R Lingappa, null null
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. PLoS pathogens 13 (11) (2017)