Michael J Bamshad (Heidi L Rehm, Heidi Rehm, H L Rehm)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 123

Top Venues

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Human mutation

Nature medicine

Harvard University (PHD)

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

Education History

Harvard University

United States

PHD :: Genetics

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)
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)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (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)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (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)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research 34 (5) (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)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Vaidehi Jobanputra, Brock E Schroeder, Michael J Bamshad, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie L Taylor, Christian R Marshall, Linyan Meng, Stephen F Kingsmore, Katarzyna A Ellsworth, Euan Ashley, Ryan J Taft, null null
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action. NPJ genomic medicine 9 (1) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (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)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Caroline Fiona Wright, Luke N Sharp, Leigh Jackson, Anna Murray, James Simon Ware, Daniel G MacArthur, Michael J Bamshad, Kashyap Amratlal Patel, Michael N Weedon
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts. Nature 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)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research 34 (5) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. 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 St 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)
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)
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)
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)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research (2024)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research 34 (5) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, null null, Grace Tiao, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv : the preprint server for biology (2024)
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Qingbo S Wang, Jessica Alfoldi, Nicholas A Watts, Christopher Vittal, Laura D Gauthier, Timothy Poterba, Michael W Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, null null, Anne H O'Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R Martin, Michael E Talkowski, Michael J Bamshad, Mark J Daly, Grace Tiao, Benjamin M Neale, Daniel G MacArthur, Konrad J Karczewski
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (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)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. 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)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Vaidehi Jobanputra, Brock E Schroeder, Michael J Bamshad, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie L Taylor, Christian R Marshall, Linyan Meng, Stephen F Kingsmore, Katarzyna A Ellsworth, Euan Ashley, Ryan J Taft, null null
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action. NPJ genomic medicine 9 (1) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine 30 (2) (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)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. 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)
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)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Heesu Ally Kim, Michael W Wilson, Grace Tiao, Stephanie P Hao, Nareh Sahakian, Katherine R Chao, Mark A Walker, Yunfei Lyu, null null, Michael J Bamshad, Benjamin M Neale, Michael E Talkowski, Mark J Daly, Harrison Brand, Konrad J Karczewski, Elizabeth G Atkinson, Alicia R Martin
A harmonized public resource of deeply sequenced diverse human genomes. Genome research 34 (5) (2024)
Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Joshua Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, Ellen Wright Clayton, John J Connolly, David R Crosslin, Ozan Dikilitas, Digna R Velez Edwards, QiPing Feng, Marissa Fisher, Robert R Freimuth, Tian Ge, null null, null null, Joseph T Glessner, Adam S Gordon, Candace Patterson, Hakon H Hakonarson, Maegan V Harden, Margaret Harr, Joel N Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R Irvin, Gail P Jarvik, Elizabeth W Karlson, Atlas Khan, Amit Khera, Krzysztof Kiryluk, Iftikhar J Kullo, Katie Larkin, Nita Limdi, Jodell E Linder, Ruth J F Loos, Yuan Luo, Edyta Malolepsza, Teri A Manolio, Lisa J Martin, Li McCarthy, Elizabeth M McNally, James B Meigs, Tesfaye B Mersha, Jonathan D Mosley, Anjene M Addington, Bahram Namjou, Nihal Pai, Lorenzo L Pesce, Ulrike Peters, Josh F Peterson, Cynthia A Prows, Megan J Puckelwartz, Michael J Bamshad, Dan M Roden, Elisabeth A Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J Schaid, Roelof A J Smit, Johanna L Smith, Jordan W Smoller, Minta Thomas, Hemant Tiwari, Diana M Toledo, Nataraja Sarma Vaitinadin, David Veenstra, Theresa L Walunas, Zhe Wang, Wei-Qi Wei, Chunhua Weng, Georgia L Wiesner, Xianyong Yin, Eimear E Kenny
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (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)
Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Michael J Bamshad, Zhiyong Lu
Tracking genetic variants in the biomedical literature using LitVar 2.0. Nature genetics (2023)
Ozan Dikilitas, Alborz Sherafati, Seyedmohammad Saadatagah, Benjamin A Satterfield, David C Kochan, Katherine C Anderson, Wendy K Chung, Scott J Hebbring, Zachary M Salvati, Richard R Sharp, Amy C Sturm, Richard A Gibbs, Robb K Rowley, Eric Venner, Jodell E Linder, Laney K Jones, Emma F Perez, Josh F Peterson, David L Veenstra, Michael J Bamshad, Hana Zouk, Dan M Roden, Marc S Williams, Teri A Manolio, Iftikhar J Kullo
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circulation. Genomic and precision medicine 16 (2) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
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)
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)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Emma K Folkerts, Ren E C Pelletier, Daniel C Chung, Susan A Goldstein, Douglas S Micalizzi, Kristen M Shannon, David A Sweetser, Eugene K Wong, Michael J Bamshad, Leland E Hull
A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. 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)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
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)
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)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Moriel 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)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Emma K Folkerts, Ren E C Pelletier, Daniel C Chung, Susan A Goldstein, Douglas S Micalizzi, Kristen M Shannon, David A Sweetser, Eugene K Wong, Michael J Bamshad, Leland E Hull
A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. medRxiv : the preprint server for health sciences (2023)
Emma K Folkerts, Ren E C Pelletier, Daniel C Chung, Susan A Goldstein, Douglas S Micalizzi, Kristen M Shannon, David A Sweetser, Eugene K Wong, Michael J Bamshad, Leland E Hull
A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. medRxiv : the preprint server for health sciences (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Henrike O Heyne, J Karjalainen, Konrad J Karczewski, S M Lemmelä, Wei Zhou, null null, Aki Samuli Havulinna, M Kurki, Michael J Bamshad, Aarno Palotie, Mark J Daly
Mono- and biallelic variant effects on disease at biobank scale. Nature 613 (7944) (2023)
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Moriel Singer-Berk, Emily Groopman, Philip W Darnowsky, Matthew Solomonson, Samantha Baxter, null null, Grace Tiao, Benjamin M Neale, Joel N Hirschhorn, Michael J Bamshad, Mark J Daly, Anne H O'Donnell-Luria, Konrad J Karczewski, Daniel G MacArthur, Kaitlin E Samocha
Inferring compound heterozygosity from large-scale exome sequencing data. Nature genetics (2023)
Victor Nauffal, Valerie N Morrill, Sean Joseph Jurgens, Seung Hoan Choi, Amelia W Hall, Lu-Chen Weng, Jennifer L Halford, Christina A Austin-Tse, Christopher M Haggerty, Stephanie L Harris, Eugene K Wong, Alvaro Alonso, Dan E Arking, Emelia J Benjamin, Eric Boerwinkle, Yuan-I Min, Adolfo Correa, Brandon K Fornwalt, Susan R Heckbert, null null, Charles Kooperberg, Henry J Lin, Ruth J F Loos, Kenneth M Rice, Namrata Gupta, Thomas W Blackwell, Braxton D Mitchell, Alanna C Morrison, Bruce M Psaty, Wendy S Post, Susan Redline, Michael J Bamshad, Stephen S Rich, Jerome I Rotter, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Patrick T Ellinor, Steven A Lubitz, null null
Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation 145 (20) (2022)
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)
Kym M Boycott, Danielle R Azzariti, Ada Hamosh, Michael J Bamshad
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking. Human mutation 43 (6) (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)

Michael J Bamshad.css-eqlu8i{font-size:small;padding-left:4px;} (Heidi L Rehm, Heidi Rehm, H L Rehm)

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Michael J Bamshad (Heidi L Rehm, Heidi Rehm, H L Rehm)