Konrad J Karczewski (Konrad Karczewski, K J Karczewski)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 70

Top Venues

Nature

Nature communications

bioRxiv : the preprint server for biology

Nature genetics

Stanford University (PHD)

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

Education History

Stanford University

United States

PHD :: Biomedical Informatics

Publications

Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J Karczewski, Samuel C Bryant, Caroline M Cusick, Claire Churchhouse, Daniel P Howrigan, Daniel King, George Davey Smith, Benjamin M Neale, Raymond K Walters, Elise B Robinson
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. Nature human behaviour 8 (8) (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J Karczewski, Karin A W Wadt, Kjeld Schmiegelow
The evolutionary impact of childhood cancer on the human gene pool. Nature communications 15 (1) (2024)
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J Karczewski, Samuel C Bryant, Caroline M Cusick, Claire Churchhouse, Daniel P Howrigan, Daniel King, George Davey Smith, Benjamin M Neale, Raymond K Walters, Elise B Robinson
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. Nature human behaviour 8 (8) (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J Karczewski, Karin A W Wadt, Kjeld Schmiegelow
The evolutionary impact of childhood cancer on the human gene pool. Nature communications 15 (1) (2024)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Anna V Kotrys, Wei Zhou, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Qingbo S Wang, Jessica Alfoldi, Nicholas A Watts, Christopher Vittal, Laura D Gauthier, Timothy Poterba, Michael W Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, null null, Anne H O'Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R Martin, Michael E Talkowski, Michael J Bamshad, Mark J Daly, Grace Tiao, Benjamin M Neale, Daniel G MacArthur, Konrad J Karczewski
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature (2024)
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier, Mark A Walker, David I Benjamin, Xuefang Zhao, Konrad J Karczewski, Isaac Wong, Ryan L Collins, Alba Sanchis-Juan, Harrison Brand, Eric Banks, Michael E Talkowski
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. Nature genetics (2024)
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J Karczewski, Samuel C Bryant, Caroline M Cusick, Claire Churchhouse, Daniel P Howrigan, Daniel King, George Davey Smith, Benjamin M Neale, Raymond K Walters, Elise B Robinson
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. Nature human behaviour 8 (8) (2024)
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J Karczewski, Karin A W Wadt, Kjeld Schmiegelow
The evolutionary impact of childhood cancer on the human gene pool. Nature communications 15 (1) (2024)
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J Karczewski, Samuel C Bryant, Caroline M Cusick, Claire Churchhouse, Daniel P Howrigan, Daniel King, George Davey Smith, Benjamin M Neale, Raymond K Walters, Elise B Robinson
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. Nature human behaviour (2024)
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J Karczewski, Karin A W Wadt, Kjeld Schmiegelow
The evolutionary impact of childhood cancer on the human gene pool. Nature communications 15 (1) (2024)
Mary Reeve, Masahiro Kanai, Daniel B Graham, Juha Karjalainen, Shuang Luo, Nikita Kolosov, Cameron Adams, Jarmo Ritari, Konrad J Karczewski, Tuomo Tapio Johannes Kiiskinen, Zachary Fuller, Juha Mehtonen, Mitja Kurki, Zia Khan, Jukka Partanen, Mark McCarthy, Mykyta Artomov, Tiinamaija Tuomi, Matti Pirinen, Jukka Kero, Ramnik Xavier, Mark J Daly, Samuli Ripatti, null FinnGen
Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk. Research square (2024)
Mary Reeve, Masahiro Kanai, Daniel B Graham, Juha Karjalainen, Shuang Luo, Nikita Kolosov, Cameron Adams, Jarmo Ritari, Konrad J Karczewski, Tuomo Tapio Johannes Kiiskinen, Zachary Fuller, Juha Mehtonen, Mitja Kurki, Zia Khan, Jukka Partanen, Mark McCarthy, Mykyta Artomov, Tiinamaija Tuomi, Matti Pirinen, Jukka Kero, Ramnik Xavier, Mark J Daly, Samuli Ripatti, null FinnGen
Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk. Research square (2024)
Mary Reeve, Masahiro Kanai, Daniel B Graham, Juha Karjalainen, Shuang Luo, Nikita Kolosov, Cameron Adams, Jarmo Ritari, Konrad J Karczewski, Tuomo Tapio Johannes Kiiskinen, Zachary Fuller, Juha Mehtonen, Mitja Kurki, Zia Khan, Jukka Partanen, Mark McCarthy, Mykyta Artomov, Tiinamaija Tuomi, Matti Pirinen, Jukka Kero, Ramnik Xavier, Mark J Daly, Samuli Ripatti, Finn Gen
Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk. Research square (2024)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. medRxiv : the preprint server for health sciences (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614 (7948) (2023)
Joel T Rämö, Tuomo Tapio Johannes Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S Havulinna, Heidi Hautakangas, null null, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Konrad J Karczewski, Samuli Ripatti, Lili A Milani, Konstantina M Stankovic, Antti Aarni Mäkitie, Mark J Daly, Aarno Palotie
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature communications 14 (1) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Joel T Rämö, Tuomo Tapio Johannes Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S Havulinna, Heidi Hautakangas, null null, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Konrad J Karczewski, Samuli Ripatti, Lili A Milani, Konstantina M Stankovic, Antti Aarni Mäkitie, Mark J Daly, Aarno Palotie
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature communications 14 (1) (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature (2023)
Joel T Rämö, Tuomo Tapio Johannes Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S Havulinna, Heidi Hautakangas, null null, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Konrad J Karczewski, Samuli Ripatti, Lili A Milani, Konstantina M Stankovic, Antti Aarni Mäkitie, Mark J Daly, Aarno Palotie
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature communications 14 (1) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature (2023)
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier, Mark A Walker, David I Benjamin, Xuefang Zhao, Konrad J Karczewski, Isaac Wong, Ryan L Collins, Alba Sanchis-Juan, Harrison Brand, Eric Banks, Michael E Talkowski
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. Nature genetics (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. medRxiv : the preprint server for health sciences (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature (2023)
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Moriel H Singer-Berk, Emily Groopman, Philip W Darnowsky, Matthew Solomonson, Samantha Baxter, null null, Grace Tiao, Benjamin M Neale, Joel N Hirschhorn, Michael J Bamshad, Mark J Daly, Anne H O'Donnell-Luria, Konrad J Karczewski, Daniel G MacArthur, Kaitlin E Samocha
Inferring compound heterozygosity from large-scale exome sequencing data. bioRxiv : the preprint server for biology (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature (2023)
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Qingbo S Wang, Jessica Alfoldi, Nicholas A Watts, Christopher Vittal, Laura D Gauthier, Timothy Poterba, Michael W Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, null null, Anne H O'Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R Martin, Michael E Talkowski, Michael J Bamshad, Mark J Daly, Grace Tiao, Benjamin M Neale, Daniel G MacArthur, Konrad J Karczewski
A genomic mutational constraint map using variation in 76,156 human genomes. Nature (2023)
Joel T Rämö, Tuomo Tapio Johannes Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S Havulinna, Heidi Hautakangas, null null, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Konrad J Karczewski, Samuli Ripatti, Lili A Milani, Konstantina M Stankovic, Antti Aarni Mäkitie, Mark J Daly, Aarno Palotie
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature communications 14 (1) (2023)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Anna V Kotrys, Wei Zhou, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature (2023)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. medRxiv : the preprint server for health sciences (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614 (7948) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. medRxiv : the preprint server for health sciences (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614 (7948) (2023)
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Patrick F Chinnery, Konrad J Karczewski, Sarah E Calvo, Benjamin M Neale, Vamsi K Mootha
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. medRxiv : the preprint server for health sciences (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614 (7948) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale, Elise B Robinson, Konrad J Karczewski, Luke O' Connor
Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614 (7948) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Moriel Singer-Berk, Emily Groopman, Philip W Darnowsky, Matthew Solomonson, Samantha Baxter, null null, Grace Tiao, Benjamin M Neale, Joel N Hirschhorn, Michael J Bamshad, Mark J Daly, Anne H O'Donnell-Luria, Konrad J Karczewski, Daniel G MacArthur, Kaitlin E Samocha
Inferring compound heterozygosity from large-scale exome sequencing data. Nature genetics (2023)
Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K Dey, Karthik A Jagadeesh, Konrad J Karczewski, Mark J Daly, Benjamin M Neale, Seunggeun Lee
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests. Nature genetics 54 (10) (2022)
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore G Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Celik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane M Del Valle, Nicole W Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy S Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David R Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, null null, null null, null null, null null, null null, null null, null null, null null, Daniel H Geschwind, Stephanie A Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan E Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo E Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian L Yaspan, Christos M Polymeropoulos, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dąbrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, John Brent Richards
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS genetics 18 (11) (2022)
Rahul Gupta, Konrad J Karczewski, Daniel P Howrigan, Benjamin M Neale, Vamsi K Mootha
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability. eLife 10 (2021)
Qingbo S Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alfoldi, Laurent C Francioli, Laura D Gauthier, Andrew J Hill, Anne H O'Donnell-Luria, null null, null null, Konrad J Karczewski, Daniel G MacArthur
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nature communications 12 (1) (2021)
Nicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J Smith, D Gareth Evans, Angharad M Roberts, Nicholas M Quaife, Sebastian Schafer, Owen Rackham, Jessica Alfoldi, Anne H O'Donnell-Luria, Laurent C Francioli, null null, null null, Stuart Alexander Cook, Paul J R Barton, Daniel G MacArthur, James Simon Ware
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nature communications 12 (1) (2021)
Elizabeth G Atkinson, Adam X Maihofer, Masahiro Kanai, Alicia R Martin, Konrad J Karczewski, Marcos Leite Santoro, Jacob C Ulirsch, Yoichiro Kamatani, Yukinori Okada, Hilary K Finucane, Karestan C Koenen, Caroline M Nievergelt, Mark J Daly, Benjamin M Neale
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power. Nature genetics 53 (2) (2021)
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alfoldi, Qingbo S Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M England, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James Simon Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, null null, Benjamin M Neale, Mark J Daly, Daniel G MacArthur
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581 (7809) (2020)
Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alfoldi, Richard C Trembath, David A van Heel, Mark J Daly, null null, null null, Stuart L Schreiber, Daniel G MacArthur
Evaluating drug targets through human loss-of-function genetic variation. Nature 581 (7809) (2020)
Nicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J Smith, D Gareth Evans, Angharad M Roberts, Nicholas M Quaife, Sebastian Schafer, Owen Rackham, Jessica Alfoldi, Anne H O'Donnell-Luria, Laurent C Francioli, null null, null null, Stuart Alexander Cook, Paul J R Barton, Daniel G MacArthur, James Simon Ware
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nature communications 11 (1) (2020)
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alfoldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang, Nicholas A Watts, Matthew Solomonson, Anne H O'Donnell-Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R Stone, Camillo Toro, Jack Fu, Grace Tiao, Kristen M Laricchia, Valentin Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, null null, null null, Kent D Taylor, Henry J Lin, Stephen S Rich, Wendy S Post, Yii-Der Ida Chen, Jerome I Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M Neale, Sekar Kathiresan, Mark J Daly, Eric Banks, Daniel G MacArthur, Michael E Talkowski
A structural variation reference for medical and population genetics. Nature 581 (7809) (2020)
Qingbo S Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alfoldi, Laurent C Francioli, Laura D Gauthier, Andrew J Hill, Anne H O'Donnell-Luria, null null, null null, Konrad J Karczewski, Daniel G MacArthur
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nature communications 11 (1) (2020)
Nicola Whiffin, Irina M Armean, Aaron Kleinman, Jamie L Marshall, Eric V Minikel, Julia K Goodrich, Nicholas M Quaife, Joanne B Cole, Qingbo S Wang, Konrad J Karczewski, Beryl B Cummings, Laurent C Francioli, Kristen Laricchia, Anna Guan, Babak Alipanahi, Peter Morrison, Marco A S Baptista, Kalpana M Merchant, null null, null null, James Simon Ware, Aki Samuli Havulinna, Bozenna Iliadou, Jung-Jin Lee, Girish N Nadkarni, Cole Whiteman, null null, Mark Daly, Tõnu Esko, Christina Hultman, Ruth J F Loos, Lili A Milani, Aarno Palotie, Carlos Pato, Michele Pato, Danish Saleheen, Patrick F Sullivan, Jessica Alfoldi, Paul Cannon, Daniel G MacArthur
The effect of LRRK2 loss-of-function variants in humans. Nature medicine 26 (6) (2020)
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts, Moriel Singer-Berk, Jonathan M Mudge, Juha Karjalainen, F Kyle Satterstrom, Anne H O'Donnell-Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alfoldi, null null, null null, Mark J Daly, Daniel G MacArthur
Transcript expression-aware annotation improves rare variant interpretation. Nature 581 (7809) (2020)
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, null null, null null, null null, Graham A Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS genetics 14 (5) (2018)
Mary Regina Boland, Konrad J Karczewski, Nicholas P Tatonetti
Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. PLoS computational biology 13 (1) (2017)
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan D Gonorazky, Kristl Claeys, Himanshu Joshi, Adam M Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, null null, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine 9 (386) (2017)
Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J Karczewski, Daniel G MacArthur, Mark Gerstein
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. Nature communications 8 (1) (2017)
Konrad J Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, null null, Mark J Daly, Daniel G MacArthur
The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic acids research 45 (D1) (2016)

Konrad J Karczewski.css-eqlu8i{font-size:small;padding-left:4px;} (Konrad Karczewski, K J Karczewski)

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Konrad J Karczewski (Konrad Karczewski, K J Karczewski)