Daniel G MacArthur (Daniel MacArthur)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 48

Top Topics

Long Noncoding Rna

Duchenne Muscular Dystrophy

Top Venues

medRxiv : the preprint server for health sciences

Nature reviews. Genetics

bioRxiv : the preprint server for biology

Nature communications

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

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)
Hope A Tanudisastro, Ira W Deveson, Harriet Dashnow, Daniel G MacArthur
Sequencing and characterizing short tandem repeats in the human genome. Nature reviews. Genetics (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)
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (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)
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (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)
Hope A Tanudisastro, Ira W Deveson, Harriet Dashnow, Daniel G MacArthur
Sequencing and characterizing short tandem repeats in the human genome. Nature reviews. Genetics (2024)
Wei Zhou, Anna S E Cuomo, Angli Xue, Masahiro Kanai, Grant Chau, Chirag Krishna, Ramnik J Xavier, Daniel G MacArthur, Joseph E Powell, Mark J Daly, Benjamin M Neale
Efficient and accurate mixed model association tool for single-cell eQTL analysis. medRxiv : the preprint server for health sciences (2024)
Hope A Tanudisastro, Ira W Deveson, Harriet Dashnow, Daniel G MacArthur
Sequencing and characterizing short tandem repeats in the human genome. Nature reviews. Genetics 25 (7) (2024)
Hope A Tanudisastro, Ira W Deveson, Harriet Dashnow, Daniel G MacArthur
Sequencing and characterizing short tandem repeats in the human genome. Nature reviews. Genetics 25 (7) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Anna S E Cuomo, Aparna Nathan, Soumya Raychaudhuri, Daniel G MacArthur, Joseph E Powell
Single-cell genomics meets human genetics. Nature reviews. Genetics (2023)
Anna S E Cuomo, Aparna Nathan, Soumya Raychaudhuri, Daniel G MacArthur, Joseph E Powell
Single-cell genomics meets human genetics. Nature reviews. Genetics (2023)
Jodie Ingles, Daniel G MacArthur
The moral and practical urgency of increasing diversity in genomics. European heart journal (2023)
Anna S E Cuomo, Aparna Nathan, Soumya Raychaudhuri, Daniel G MacArthur, Joseph E Powell
Single-cell genomics meets human genetics. Nature reviews. Genetics (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)
Anna S E Cuomo, Aparna Nathan, Soumya Raychaudhuri, Daniel G MacArthur, Joseph E Powell
Single-cell genomics meets human genetics. Nature reviews. Genetics (2023)
Kristen M Laricchia, Nicole J Lake, Nicholas A Watts, Megan Shand, Andrea Haessly, Laura Gauthier, David Benjamin, Eric Banks, Jose Soto, Kiran V Garimella, James Emery, null null, Michael J Bamshad, Daniel G MacArthur, Grace Tiao, Monkol Lek, Vamsi K Mootha, Sarah E Calvo
Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome research 32 (3) (2022)
Dafni A Glinos, Garrett Garborcauskas, Paul J Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden, Xiaoguang Dai, François Aguet, Kathleen L Brown, Kiran Garimella, Tera Bowers, Maura Costello, Kristin Ardlie, Ruiqi Jian, Nathan R Tucker, Patrick T Ellinor, Eoghan D Harrington, Hua Tang, Michael Paul Snyder, Sissel Juul, Pejman Mohammadi, Daniel G MacArthur, Tuuli Lappalainen, Beryl B Cummings
Transcriptome variation in human tissues revealed by long-read sequencing. Nature 608 (7922) (2022)
Lynn S Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R Chao, Gabrielle Lemire, Ikeoluwa Osei-Owusu, Grace E VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A Austin-Tse, Michael J Bamshad, Daniel G MacArthur, Anne H O'Donnell-Luria
seqr: A web-based analysis and collaboration tool for rare disease genomics. Human mutation 43 (6) (2022)
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)
Tuuli Lappalainen, Daniel G MacArthur
From variant to function in human disease genetics. Science (New York, N.Y.) 373 (6562) (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)
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, Wai-Man Chan, Mary C Whitman, Sherin Shaaban, Caroline D Robson, Sarah MacKinnon, Eleina M England, Hugh J McMillan, Christopher Kelly, Brandon M Pratt, null null, Anne H O'Donnell-Luria, Daniel G MacArthur, Kym M Boycott, David G Hunter, Elizabeth C Engle
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European journal of human genetics : EJHG 29 (5) (2021)
Qingbo S Wang, David R Kelley, Jacob C Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui, Carlos Albors, Nathan Cheng, Yukinori Okada, null null, François Aguet, Kristin G Ardlie, Daniel G MacArthur, Hilary K Finucane
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. Nature communications 12 (1) (2021)
Ana Töpf, Yavuz Oktay, Sunitha Balaraju, Elmasnur Yilmaz, Ece Sonmezler, Uluc Yis, Steven Laurie, Rachel Thompson, Andreas Roos, Daniel G MacArthur, Ahmet Yaramis, Serdal Güngör, Hanns Lochmüller, Semra Hiz, Rita Horvath
Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European journal of human genetics : EJHG 28 (3) (2021)
Julia K Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A Maloney, Andrew W Dahl, Carlos A Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John E Blangero, Eric Boerwinkle, Lori L Bonnycastle, Erwin Bottinger, Donald W Bowden, Federico Centeno-Cruz, John C Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto Garcia-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif C Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L Hanis, Torben Hansen, Nancy Heard- Costa, Brian E Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong Young Lee, Juyoung Lee, Donna M Lehman, Allan Linneberg, Jian-Jun Liu, Ruth J F Loos, Valeriya Lyssenko, Ronald Ching-Wan Ma, Angélica Martínez-Hernández, James B Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L Mohlke, Andrew D Morris, Alanna C Morrison, Maggie C Y Ng, Peter M Nilssson, Christopher J O'Donnell, Lorena Orozco-Orozco, Colin Neil Alexander Palmer, Kyong-Soo Park, Wendy S Post, Oluf Pedersen, Michael H Preuss, Bruce M Psaty, Alexander P Reiner, Cristina Revilla-Monsalve, Stephen S Rich, Jerome I Rotter, Danish Saleheen, Claudia Schurmann, Xueling S Sim, Robert Sladek, Kerrin S Small, Wing Yee So, Timothy D Spector, Konstantin Strauch, Tim M Strom, E Shyong Tai, Claudia Ha-Ting Tam, Yik Ying Teo, Farook Thameem, Christopher Wai Kei Lam, Russell P Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M van Dam, Ramachandran S Vasan, James G Wilson, Daniel R Witte, Tien-Yin Wong, null null, Noël P Burtt, Noah Zaitlen, Mark I McCarthy, Michael Boehnke, Toni I Pollin, Jason Flannick, Josep Maria Mercader, Anne H O'Donnell-Luria, Samantha Baxter, Jose C Florez, Daniel G MacArthur, Miriam S Udler
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nature communications 12 (1) (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)
Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Himanshu Joshi, Monique M Ryan, Beryl B Cummings, Catriona A McLean, Daniel G MacArthur, Andrew J Kornberg, Sandra T Cooper
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. European journal of human genetics : EJHG 29 (1) (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)
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