Anne H O'Donnell-Luria (Anne Oâ Donnell-Luria, Victor Luria, Anne O'Donnell, Anne O'Donnell-Luria)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 108

Top Venues

medRxiv : the preprint server for health sciences

Nature

bioRxiv : the preprint server for biology

Nature genetics

Broad Institute of MIT and Harvard

Tulane University (BSC)

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

Affiliation History

Broad Institute of MIT and Harvard

United States

Associate Member :: Program in Medical and Population Genetics

Boston Children's Hospital Jul 01 2017

United States

Attending Physician :: Division of Genetics and Genomics

Broad Institute Sep 05 2016 - Jul 31 2017

United States

Post doc :: Medical and Population Genetics

Education History

Tulane University

United States

BSC

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (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)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. 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)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (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)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (2024)
Katherine Fleck, Anne H O'Donnell-Luria, Nitanta Garag, Amir Karger, Trevor Hunter, Daniel Marten, William Phu, Kee-Myoung Nam, Nenad Sestan, Anne H O'Donnell-Luria, Jelena Erceg
Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease. 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)
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Jonah Einson, Nicholas A Watts, null null, Tuuli Lappalainen, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. 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)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. 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)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
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Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (2024)
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Jonah Einson, Nicholas A Watts, null null, Tuuli Lappalainen, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Rachel Karchin, Predrag Radivojac, Anne H O'Donnell-Luria, Marc S Greenblatt, Michael Yevgeniy Tolstorukov, Dmitriy Sonkin
Improving transparency of computational tools for variant effect prediction. Nature genetics 56 (7) (2024)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Michael J Bamshad, Anne H O'Donnell-Luria, Sarah Ennis
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service. medRxiv : the preprint server for health sciences (2023)
Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G Schraiber, Jeremy McRae, Moriel Singer-Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas Kuderna, Laksshman Sundaram, Yibing Wu, Aashish Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, Francois Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel Balick, Mareike C Janiak, Martin Kuhlwilm, Joseph D Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S Chuma, Julie Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano R de Melo, Fabricio Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, João Valsecchi do Amaral, Mariluce Messias, Maria N F da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J Rabarivola, Alphonse Zaramody, Clifford J Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H Simmons, Eduardo Fernandez-Duque, Ee Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D Keyyu, Sascha Knauf, Minh D Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C Kitchener, Dietmar Zinner, Ivo Glynne Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M D Beck, Govindhaswamy Umapathy, Christian Roos, Jean P Boubli, Monkol Lek, Shamil Sunyaev, Anne H O'Donnell-Luria, Michael J Bamshad, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Farh
The landscape of tolerated genetic variation in humans and primates. bioRxiv : the preprint server for biology (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Gabrielle T Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich, Lynn Pais, Christina Austin-Tse, Stephanie DiTroia, Emily O'Heir, Vijay S Ganesh, Monica H Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei-Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve Huang, Kiran Garimella, Samantha L Kirkham, Jennifer E Neil, Diane D Shao, Christopher A Walsh, Emanuela Argili, Carolyn Le, Elliott H Sherr, Joseph Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G Sankaran, Jill A Madden, Casie A Genetti, Alan H Beggs, Pankaj B Agrawal, Kinga M Bujakowska, Emily Place, Eric A Pierce, Sandra Donkervoort, Carsten G Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Tan, Susan M White, Ana Töpf, Volker Straub, Mark D Fleming, Martin R Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A Donald, Zandre Bruwer, Gianina Ravenscroft, Nigel G Laing, Daniel G MacArthur, Heidi L Rehm, Michael E Talkowski, Harrison Brand, Anne H O'Donnell-Luria
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv : the preprint server for health sciences (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
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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)
Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G Schraiber, Jeremy McRae, Moriel Singer-Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas Kuderna, Laksshman Sundaram, Yibing Wu, Aashish Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, Francois Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel Balick, Mareike C Janiak, Martin Kuhlwilm, Joseph D Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S Chuma, Julie Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano R de Melo, Fabricio Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, João Valsecchi do Amaral, Mariluce Messias, Maria N F da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J Rabarivola, Alphonse Zaramody, Clifford J Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H Simmons, Eduardo Fernandez-Duque, Ee Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D Keyyu, Sascha Knauf, Minh D Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C Kitchener, Dietmar Zinner, Ivo Glynne Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M D Beck, Govindhaswamy Umapathy, Christian Roos, Jean P Boubli, Monkol Lek, Shamil Sunyaev, Anne H O'Donnell-Luria, Michael J Bamshad, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Farh
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Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
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Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
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Jennifer L Hall, Sally Honeycutt, Nicole Gonzalez, Anne H O'Donnell-Luria, Casey Overby Taylor, Laura M Stevens, Anthony A Philippakis, Michael C Schatz
NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. Circulation. Genomic and precision medicine (2023)
Petko P Fiziev, Jeremy F McRae, Jacob C Ulirsch, Jacqueline S Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G Schraiber, Hong Gao, Dylan Cable, Yair Field, François Aguet, Marc Fasnacht, Ahmed A Metwally, Jeffrey Rogers, Tomas Marques-Bonet, Michael J Bamshad, Anne H O'Donnell-Luria, Amit V Khera, Kyle Kai-How Farh
Rare penetrant mutations confer severe risk of common diseases. Science (New York, N.Y.) 380 (6648) (2023)
Sarah L Stenton, Madelynn Campagna, Anthony A Philippakis, Anne H O'Donnell-Luria, Michael H Gelb
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genetics in medicine open 1 (1) (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine (2023)
Moriel H Singer-Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G Seaby, Eleina England, Jordan C Wood, Rachel G Son, Nicholas A Watts, Konrad J Karczewski, Steven M Harrison, Daniel G MacArthur, Heidi L Rehm, Anne H O'Donnell-Luria
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. medRxiv : the preprint server for health sciences (2023)
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn S Pais, Malika Sud, Uma T Shankavaram, Alysia Kern Lovgren, Christina A Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace E VanNoy, Anne H O'Donnell-Luria, Travis H Stracker
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency. medRxiv : the preprint server for health sciences (2023)
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica Hsiung Wojcik, Adam D Kennedy, Gregory Michelotti, Anne H O'Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Michael J Bamshad, Anne H O'Donnell-Luria, Sarah Ennis
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service. 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)
Eleanor G Seaby, Gary Leggatt, Guo Cheng, N Simon Thomas, James J Ashton, Imogen Stafford, null null, Diana Baralle, Michael J Bamshad, Anne H O'Donnell-Luria, Sarah Ennis
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 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)
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)
Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G Schraiber, Jeremy F McRae, Moriel H Singer-Berk, Yanshen Yang, Anastasia S D Dietrich, Petko P Fiziev, Lukas F K Kuderna, Laksshman Sundaram, Yibing Wu, Aashish N Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, François Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel J Balick, Mareike C Janiak, Martin Kuhlwilm, Joseph D Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rousselle, Felipe Ennes Silva, Lidia Agueda, Julie Marie Blanc, Marta Gut, Dorien de Vries, Ian B Goodhead, Ronald Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idrissa S Chuma, Julie E Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano Rodrigues de Melo, Fabrício Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Pires Farias, João Valsecchi do Amaral, Mariluce Rezende Messias, Maria N F da Silva, Mihir Trivedi, Rogério Vieira Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J Rabarivola, Alphonse Zaramody, Clifford J Jolly, Jane E Phillips-Conroy, Gregory K Wilkerson, Christian Abee, Joe H Simmons, Eduardo Fernández-Duque, Sree Kanthaswamy, Fekadu Shiferaw, Dong-Dong Wu, Long Zhou, Yong Shao, Guo-Jie Zhang, Julius D Keyyu, Sascha Knauf, Quyen Hanh Do, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Bataillon, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Boon-Ooi Tan, Weng Khong Lim, Andrew C Kitchener, Dietmar Zinner, Ivo Glynne Gut, Amanda Dawn Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M D Beck, Govindhaswamy Umapathy, Christian Roos, Jean Phillipe Boubli, Monkol Lek, Shamil R Sunyaev, Anne H O'Donnell-Luria, Michael J Bamshad, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Farh
The landscape of tolerated genetic variation in humans and primates. Science (New York, N.Y.) 380 (6648) (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)
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)
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)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Jillian G Serrano, Melanie O'Leary, Grace VanNoy, Ingrid A Holm, Yarden S Fraiman, Heidi L Rehm, Anne H O'Donnell-Luria, Monica Hsiung Wojcik
Advancing Understanding of Inequities in Rare Disease Genomics. medRxiv : the preprint server for health sciences (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine 29 (1) (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (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)
Erin E Duffy, Benjamin Finander, GiHun Choi, Ava C Carter, Iva Pritisanac, Aqsa Alam, Victor Luria, Amir Karger, William Phu, Maxwell A Sherman, Elena G Assad, Naomi Pajarillo, Alexandra Khitun, Elizabeth E Crouch, Sanika Ganesh, Jin Chen, Bonnie Berger, Nenad Sestan, Anne H O'Donnell-Luria, Eric J Huang, Eric C Griffith, Julie Deborah Forman-Kay, Alan M Moses, Brian T Kalish, Michael Eldon Greenberg
Developmental dynamics of RNA translation in the human brain. Nature neuroscience 25 (10) (2022)
Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung, Irina T Zaharieva, Adnan Manzur, Stephanie P DiTroia, Silvio Alessandro Di Gioia, Lynn S Pais, Veronica Pini, Brenda J Barry, Wai-Man Chan, James E Elder, John Chrisodoulou, Eleanor Hay, Eleina M England, Pinki Munot, David G Hunter, Lucy Feng, Danielle Ledoux, Anne H O'Donnell-Luria, Rahul Phadke, Elizabeth C Engle, Anna Sarkozy, Francesco Muntoni
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human mutation 43 (4) (2022)
Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C Swanson, Christelle Moufawad El Achkar, John Schreiber, Grace E VanNoy, Emily O'Heir, Anne H O'Donnell-Luria, Richard Alan Lewis, Pilar Magoulas, Alyssa Tran, Mahshid S Azamian, Hsiao-Tuan Chao, Lisa Pham, Rodney C Samaco, Sarah Elsea, Erin Thorpe, Akanchha Kesari, Denise Perry, Brendan Lee, Seema R Lalani, Jill Anne Rosenfeld, Heather E Olson, Lindsay C Burrage, null null
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American journal of medical genetics. Part A 188 (12) (2022)
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Mahshid S Azamian, Casie A Genetti, Pankaj B Agrawal, Jonathan Picker, Monica Hsiung Wojcik, Mauricio R Delgado, Sally-Ann Lynch, Stephen W Scherer, Jennifer L Howe, Carlos A Bacino, Stephanie DiTroia, Grace E VanNoy, Anne H O'Donnell-Luria, Seema R Lalani, William D Graf, Jill Anne Rosenfeld, Evan E Eichler, Rachel K Earl, Daryl A Scott
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Human mutation 43 (4) (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)
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, William Phu, Julia K Goodrich, Matthew Solomonson, Genome Aggregation Database Consortium, Michael J Bamshad, Daniel G MacArthur, Anne H O'Donnell-Luria
Variant interpretation using population databases: lessons from gnomAD. Human mutation (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)
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)
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)

Anne H O'Donnell-Luria.css-eqlu8i{font-size:small;padding-left:4px;} (Anne Oâ Donnell-Luria, Victor Luria, Anne O'Donnell, Anne O'Donnell-Luria)

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Anne H O'Donnell-Luria (Anne Oâ Donnell-Luria, Victor Luria, Anne O'Donnell, Anne O'Donnell-Luria)