Ben Weisburd

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 25

Top Topics

Duchenne Muscular Dystrophy

Candida Albicans

Congenital Heart Disease

Genome Wide Association Study

Top Venues

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Neurology. Genetics

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)
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)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. 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)
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)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. 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)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. 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)
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Grace E VanNoy, Nehir Edibe Kurtas, Michael J Bamshad, Aaron R Quinlan, Harriet Dashnow
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci. medRxiv : the preprint server for health sciences (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Ben Weisburd, Grace Tiao, Michael J Bamshad
Insights from a genome-wide truth set of tandem repeat variation. bioRxiv : the preprint server for biology (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Jay P Ross, Fulya Akcimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A Dion, Guy A Rouleau, Sali M K Farhan
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis. Neurology. Genetics 8 (4) (2022)
Leigh B Waddell, Samantha J Bryen, Beryl B Cummings, Adam M Bournazos, Frances J Evesson, Himanshu Joshi, Jamie L Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R Davis, Fathimath Faiz, Rebecca Gooding, Sarah A Sandaradura, Gina L O'Grady, Michel C Tchan, David R Mowat, Emily C Oates, Michelle A Farrar, Hugo Sampaio, Alan Sl Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N Kenwright, Nicole Graf, Susan Arbuckle, Nigel F Clarke, Daniel G MacArthur, Kristi J Jones, Monkol Lek, Sandra T Cooper
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurology. Genetics 7 (1) (2021)