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Julia K. Goodrich
Broad Institute of MIT and Harvard
41H指数
104论文数
6.0W被引数
收录论文 32
发表时间
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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database探索基因组聚合数据库中超过80万人的临床相关变异的穿透性.png)
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2025-10-31
0
OAAI
Sanna Gudmundsson; Moriel Singer-Berk; Sarah L. Stenton; Julia K. Goodrich; Michael W. Wilson; Jonah Einson; Nicholas A. Watts; Tuuli Lappalainen; Heidi L. Rehm; Daniel G. MacArthur; Anne O’Donnell-Luria
Nature CommunicationsIF15.7
2025-10-310OAAISanna Gudmundsson; Moriel Singer-Berk; Sarah L. Stenton; Julia K. Goodrich; Michael W. Wilson; Jonah Einson; Nicholas A. Watts; Tuuli Lappalainen; Heidi L. Rehm; Daniel G. MacArthur; Anne O’Donnell-Luria.png){kind=icon}
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收藏Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene2024-10-241Ganesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne
2024-10-241PREAI
Ganesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne分享收藏Genome Sequencing for Diagnosing Rare Diseases2024-06-0610Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne
2024-06-0610PREAI
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne分享收藏A harmonized public resource of deeply sequenced diverse human genomesGENOME RESEARCH2024-05-1513
OAAIKoenig, Zan; Yohannes, Mary T.; Nkambule, Lethukuthula L.; Zhao, Xuefang; Goodrich, Julia K.; Kim, Heesu Ally; Wilson, Michael W.; Tiao, Grace; Hao, Stephanie P.; Sahakian, Nareh; Chao, Katherine R.; Walker, Mark A.; Lyu, Yunfei; Rehm, Heidi L.; Neale, Benjamin M.; Talkowski, Michael E.; Daly, Mark J.; Brand, Harrison; Karczewski, Konrad J.; Atkinson, Elizabeth G.; Martin, Alicia R.
GENOME RESEARCHIF5.5
2024-05-1513OAAIKoenig, Zan; Yohannes, Mary T.; Nkambule, Lethukuthula L.; Zhao, Xuefang; Goodrich, Julia K.; Kim, Heesu Ally; Wilson, Michael W.; Tiao, Grace; Hao, Stephanie P.; Sahakian, Nareh; Chao, Katherine R.; Walker, Mark A.; Lyu, Yunfei; Rehm, Heidi L.; Neale, Benjamin M.; Talkowski, Michael E.; Daly, Mark J.; Brand, Harrison; Karczewski, Konrad J.; Atkinson, Elizabeth G.; Martin, Alicia R.分享收藏Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease2024-05-017OAAILemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne
2024-05-017OAAILemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne分享收藏CHARR efficiently estimates contamination from DNA sequencing data2023-12-013OAAILu, Wenhan; Gauthier, Laura D.; Poterba, Timothy; Giacopuzzi, Edoardo; Goodrich, Julia K.; Stevens, Christine R.; King, Daniel; Daly, Mark J.; Neale, Benjamin M.; Karczewski, Konrad J.
2023-12-013OAAILu, Wenhan; Gauthier, Laura D.; Poterba, Timothy; Giacopuzzi, Edoardo; Goodrich, Julia K.; Stevens, Christine R.; King, Daniel; Daly, Mark J.; Neale, Benjamin M.; Karczewski, Konrad J.分享收藏Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death基因组尸检以确定妊娠丢失和围产儿死亡的根本原因NATURE MEDICINE2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui
NATURE MEDICINEIF50
2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui分享收藏Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes2022-09-0191OAAIKarczewski, Konrad J.; Solomonson, Matthew; Chao, Katherine R.; Goodrich, Julia K.; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M.; Tsai, Ellen A.; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A. Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G.; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I.; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S.; Churchhouse, Claire; Howrigan, Daniel P.; Zhou, Wei; Watts, Nicholas A.; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D.; Gupta, Namrata; MacArthur, Daniel G.; Rehm, Heidi L.; Seed, Cotton; Philippakis, Anthony A.; Daly, Mark J.; Davis, J. Wade; Runz, Heiko; Miller, Melissa R.; Neale, Benjamin M.
2022-09-0191OAAIKarczewski, Konrad J.; Solomonson, Matthew; Chao, Katherine R.; Goodrich, Julia K.; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M.; Tsai, Ellen A.; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A. Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G.; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I.; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S.; Churchhouse, Claire; Howrigan, Daniel P.; Zhou, Wei; Watts, Nicholas A.; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D.; Gupta, Namrata; MacArthur, Daniel G.; Rehm, Heidi L.; Seed, Cotton; Philippakis, Anthony A.; Daly, Mark J.; Davis, J. Wade; Runz, Heiko; Miller, Melissa R.; Neale, Benjamin M.分享收藏Variant interpretation using population databases: Lessons from gnomAD使用人口数据库的变体解释: gnomAD的经验教训HUMAN MUTATION2021-12-16302OAAIGudmundsson, Sanna; Singer-Berk, Moriel; Watts, Nicholas A.; Phu, William; Goodrich, Julia K.; Solomonson, Matthew; Rehm, Heidi L.; MacArthur, Daniel G.; O'Donnell-Luria, Anne
HUMAN MUTATIONIF3.7
2021-12-16302OAAIGudmundsson, Sanna; Singer-Berk, Moriel; Watts, Nicholas A.; Phu, William; Goodrich, Julia K.; Solomonson, Matthew; Rehm, Heidi L.; MacArthur, Daniel G.; O'Donnell-Luria, Anne分享收藏Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes跨77,184外显子组的单基因代谢条件下的外显率和可变表现率的决定因素NATURE COMMUNICATIONS2021-06-0939OAAIGoodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josee; Eugenia Garay-Sevilla, Ma; Garcia-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; Gonzalez-Villalpando, Clicerio; Elena Gonzalez, Ma; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jorgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martinez-Hernandez, Angelica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, Andrew D.; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O'Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, Wendy S.; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusie-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noel P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O'Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, Miriam S.
NATURE COMMUNICATIONSIF15.7
2021-06-0939OAAIGoodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josee; Eugenia Garay-Sevilla, Ma; Garcia-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; Gonzalez-Villalpando, Clicerio; Elena Gonzalez, Ma; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jorgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martinez-Hernandez, Angelica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, Andrew D.; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O'Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, Wendy S.; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusie-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noel P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O'Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, Miriam S.分享收藏A form of muscular dystrophy associated with pathogenic variants in JAG2 (vol 108, pg 840, 2021)2021-06-015OAAICoppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.
2021-06-015OAAICoppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.分享收藏A form of muscular dystrophy associated with pathogenic variants in JAG22021-05-0116OAAICoppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.
2021-05-0116OAAICoppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.分享收藏Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript2021-04-1515OAAIWahlster, Lara; Verboon, Jeffrey M.; Ludwig, Leif S.; Black, Susan C.; Luo, Wendy; Garg, Kopal; Voit, Richard A.; Collins, Ryan L.; Garimella, Kiran; Costello, Maura; Chao, Katherine R.; Goodrich, Julia K.; DiTroia, Stephanie P.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Michelson, Alan D.; Cantor, Alan B.; Sankaran, Vijay G.
2021-04-1515OAAIWahlster, Lara; Verboon, Jeffrey M.; Ludwig, Leif S.; Black, Susan C.; Luo, Wendy; Garg, Kopal; Voit, Richard A.; Collins, Ryan L.; Garimella, Kiran; Costello, Maura; Chao, Katherine R.; Goodrich, Julia K.; DiTroia, Stephanie P.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Michelson, Alan D.; Cantor, Alan B.; Sankaran, Vijay G.分享收藏The effect of LRRK2 loss-of-function variants in humans (vol 26, pg 869, 2020)LRRK2功能缺失变异体在人类中的作用 (第26卷，869页，2020)NATURE MEDICINE2021-01-220OAAIWhiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Armean, Irina M.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; O'Donnell-Luria, Anne H.; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Samocha, Kaitlin E.; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Soto, Jose; Tiao, Grace; Tibbetts, Kathleen; Tolonen, Charlotte; Vittal, Christopher; Wade, Gordon; Wang, Arcturus; Watts, Nicholas A.; Weisburd, Ben; Aguilar-Salinas, Carlos A.; Aguilar-Salinas, Carlos A.; Ahmad, Tariq; Albert, Christine M.; Ardissino, Diego; Atzmon, Gil; Barnard, John; Beaugerie, Laurent; Benjamin, Emelia J.; Boehnke, Michael; Bonnycastle, Lori L.; Bottinger, Erwin P.; Bowden, Donald W.; Bown, Matthew J.; Chambers, John C.; Chan, Juliana C.; Chasman, Daniel; Cho, Judy; Chung, Mina K.; Cohen, Bruce; Correa, Adolfo; Dabelea, Dana; Darbar, Dawood; Duggirala, Ravindranath; Dupuis, Josee; Ellinor, Patrick T.; Elosua, Roberto; Erdmann, Jeanette; Farkkila, Martti; Florez, Jose; Franke, Andre; Getz, Gad; Glaser, Benjamin; Glatt, Stephen J.; Goldstein, David; Gonzalez, Clicerio; Groop, Leif; Haiman, Christopher; Hanis, Craig; Harms, Matthew; Hiltunen, Mikko; Holi, Matti M.; Hultman, Christina M.; Kallela, Mikko; Kaprio, Jaakko; Kathiresan, Sekar; Kim, Bong-Jo; Kim, Young Jin; Kirov, George; Kooner, Jaspal; Koskinen, Seppo; Krumholz, Harlan M.; Kugathasan, Subra; Kwak, Soo Heon; Laakso, Markku; Lehtimaki, Terho; Loos, Ruth J. F.; Lubitz, Steven A.; Ma, Ronald C. W.; MacArthur, Daniel G.; Marrugat, Jaume; Mattila, Kari M.; McCarroll, Steven; McCarthy, Mark I.; McGovern, Dermot; McPherson, Ruth; Meigs, James B.; Melander, Olle; Metspalu, Andres; Nilsson, Peter M.; O'Donovan, Michael C.; Ongur, Dost; Orozco, Lorena; Owen, Michael J.; Palmer, Colin N. A.; Palotie, Aarno; Park, Kyong Soo; Pato, Carlos; Pulver, Ann E.; Rahman, Nazneen; Remes, Anne M.; Riou, John D.; Ripatti, Samuli; Roden, Dan M.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Scharf, Jeremiah; Schunkert, Heribert; Shoemaker, Moore B.; Sklar, Pamela; Soininen, Hilkka; Sokol, Harry; Spector, Tim; Sullivan, Patrick F.; Suvisaari, Jaana; Tai, E. Shyong; Teo, Yik Ying; Tiinamaija, Tuomi; Tsuang, Ming; Turner, Dan; Tusie-Luna, Teresa; Vartiainen, Erkki; Vawter, Marquis P.; Ware, James S.; Watkins, Hugh; Weersma, Rinse K.; Wessman, Maija; Wilson, James G.; Xavier, Ramnik J.; Ware, James S.; Havulinna, Aki S.; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N.; Whiteman, Cole; Agee, Michelle; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A.; Hicks, Barry; Hinds, David A.; Huber, Karen E.; Jewett, Ethan M.; Jiang, Yunxuan; Lin, Keng-Han; Litterman, Nadia K.; McIntyre, Matthew H.; McManus, Kimberly F.; Mountain, Joanna L.; Noblin, Elizabeth S.; Northover, Carrie A. M.; Pitts, Steven J.; Poznik, G. David; Sathirapongsasuti, J. Fah; Shelton, Janie F.; Shringarpure, Suyash; Tian, Chao; Tung, Joyce Y.; Vacic, Vladimir; Wang, Xin; Wilson, Catherine H.; Daly, Mark; Esko, Tonu; Hultman, Christina; Loos, Ruth J. F.; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F.; Alfoldi, Jessica; Cannon, Paul; MacArthur, Daniel G.
NATURE MEDICINEIF50
2021-01-220OAAIWhiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Armean, Irina M.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; O'Donnell-Luria, Anne H.; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Samocha, Kaitlin E.; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Soto, Jose; Tiao, Grace; Tibbetts, Kathleen; Tolonen, Charlotte; Vittal, Christopher; Wade, Gordon; Wang, Arcturus; Watts, Nicholas A.; Weisburd, Ben; Aguilar-Salinas, Carlos A.; Aguilar-Salinas, Carlos A.; Ahmad, Tariq; Albert, Christine M.; Ardissino, Diego; Atzmon, Gil; Barnard, John; Beaugerie, Laurent; Benjamin, Emelia J.; Boehnke, Michael; Bonnycastle, Lori L.; Bottinger, Erwin P.; Bowden, Donald W.; Bown, Matthew J.; Chambers, John C.; Chan, Juliana C.; Chasman, Daniel; Cho, Judy; Chung, Mina K.; Cohen, Bruce; Correa, Adolfo; Dabelea, Dana; Darbar, Dawood; Duggirala, Ravindranath; Dupuis, Josee; Ellinor, Patrick T.; Elosua, Roberto; Erdmann, Jeanette; Farkkila, Martti; Florez, Jose; Franke, Andre; Getz, Gad; Glaser, Benjamin; Glatt, Stephen J.; Goldstein, David; Gonzalez, Clicerio; Groop, Leif; Haiman, Christopher; Hanis, Craig; Harms, Matthew; Hiltunen, Mikko; Holi, Matti M.; Hultman, Christina M.; Kallela, Mikko; Kaprio, Jaakko; Kathiresan, Sekar; Kim, Bong-Jo; Kim, Young Jin; Kirov, George; Kooner, Jaspal; Koskinen, Seppo; Krumholz, Harlan M.; Kugathasan, Subra; Kwak, Soo Heon; Laakso, Markku; Lehtimaki, Terho; Loos, Ruth J. F.; Lubitz, Steven A.; Ma, Ronald C. W.; MacArthur, Daniel G.; Marrugat, Jaume; Mattila, Kari M.; McCarroll, Steven; McCarthy, Mark I.; McGovern, Dermot; McPherson, Ruth; Meigs, James B.; Melander, Olle; Metspalu, Andres; Nilsson, Peter M.; O'Donovan, Michael C.; Ongur, Dost; Orozco, Lorena; Owen, Michael J.; Palmer, Colin N. A.; Palotie, Aarno; Park, Kyong Soo; Pato, Carlos; Pulver, Ann E.; Rahman, Nazneen; Remes, Anne M.; Riou, John D.; Ripatti, Samuli; Roden, Dan M.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Scharf, Jeremiah; Schunkert, Heribert; Shoemaker, Moore B.; Sklar, Pamela; Soininen, Hilkka; Sokol, Harry; Spector, Tim; Sullivan, Patrick F.; Suvisaari, Jaana; Tai, E. Shyong; Teo, Yik Ying; Tiinamaija, Tuomi; Tsuang, Ming; Turner, Dan; Tusie-Luna, Teresa; Vartiainen, Erkki; Vawter, Marquis P.; Ware, James S.; Watkins, Hugh; Weersma, Rinse K.; Wessman, Maija; Wilson, James G.; Xavier, Ramnik J.; Ware, James S.; Havulinna, Aki S.; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N.; Whiteman, Cole; Agee, Michelle; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A.; Hicks, Barry; Hinds, David A.; Huber, Karen E.; Jewett, Ethan M.; Jiang, Yunxuan; Lin, Keng-Han; Litterman, Nadia K.; McIntyre, Matthew H.; McManus, Kimberly F.; Mountain, Joanna L.; Noblin, Elizabeth S.; Northover, Carrie A. M.; Pitts, Steven J.; Poznik, G. David; Sathirapongsasuti, J. Fah; Shelton, Janie F.; Shringarpure, Suyash; Tian, Chao; Tung, Joyce Y.; Vacic, Vladimir; Wang, Xin; Wilson, Catherine H.; Daly, Mark; Esko, Tonu; Hultman, Christina; Loos, Ruth J. F.; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F.; Alfoldi, Jessica; Cannon, Paul; MacArthur, Daniel G.分享收藏The effect of LRRK2 loss-of-function variants in humansLRRK2功能缺失变异体对人类的影响NATURE MEDICINE2020-05-2783OAAIWhiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Ware, James S.; Havulinna, Aki S.; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N.; Whiteman, Cole; Daly, Mark; Esko, Tonu; Hultman, Christina; Loos, Ruth J. F.; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F.; Alfoldi, Jessica; Cannon, Paul; MacArthur, Daniel G.
NATURE MEDICINEIF50
2020-05-2783OAAIWhiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Ware, James S.; Havulinna, Aki S.; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N.; Whiteman, Cole; Daly, Mark; Esko, Tonu; Hultman, Christina; Loos, Ruth J. F.; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F.; Alfoldi, Jessica; Cannon, Paul; MacArthur, Daniel G.分享收藏Interactions between the Gut Microbiome and Mucosal Immunoglobulins A, M, and G in the Developing Infant Gut发育中的婴儿肠道中肠道微生物组与粘膜免疫球蛋白A，M和G之间的相互作用MSYSTEMS2019-12-1753OAAIJanzon, Anders; Goodrich, Julia K.; Koren, Omry; Waters, Jillian L.; Ley, Ruth E.
MSYSTEMSIF4.6
2019-12-1753OAAIJanzon, Anders; Goodrich, Julia K.; Koren, Omry; Waters, Jillian L.; Ley, Ruth E.分享收藏Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome2019-10-015OAAIWojcik, Monica H.; Thiele, Katri; Grant, Carly F.; Chao, Katherine; Goodrich, Julia; O'Donnell-Luria, Anne; Lacro, Ronald, V; Tan, Wen-Hann; Agrawal, Pankaj B.
2019-10-015OAAIWojcik, Monica H.; Thiele, Katri; Grant, Carly F.; Chao, Katherine; Goodrich, Julia; O'Donnell-Luria, Anne; Lacro, Ronald, V; Tan, Wen-Hann; Agrawal, Pankaj B.分享收藏MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement2019-08-2929OAAIDonkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I; Topf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S. H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V; Foley, A. Reghan; Innes, A. M.; Bonnemann, C. G.; Shutt, T. E.
2019-08-2929OAAIDonkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I; Topf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S. H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V; Foley, A. Reghan; Innes, A. M.; Bonnemann, C. G.; Shutt, T. E.分享收藏The Relationship Between the Human Genome and Microbiome Comes into View人类基因组与微生物组之间的关系进入视野2017-11-27222OAAIGoodrich, Julia K.; Davenport, Emily R.; Clark, Andrew G.; Ley, Ruth E.
2017-11-27222OAAIGoodrich, Julia K.; Davenport, Emily R.; Clark, Andrew G.; Ley, Ruth E.分享收藏Reply to Triclocarban and Health: the Jury Is Still OutMSPHERE2016-12-281OAAIPischel, Lauren; Poole, Angela C.; Ley, Catherine; Suh, Gina; Goodrich, Julia K.; Haggerty, Thomas D.; Ley, Ruth E.; Parsonnet, Julie
MSPHEREIF3.1
2016-12-281OAAIPischel, Lauren; Poole, Angela C.; Ley, Catherine; Suh, Gina; Goodrich, Julia K.; Haggerty, Thomas D.; Ley, Ruth E.; Parsonnet, Julie分享收藏