Alan H Beggs

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 56

Top Venues

Harvard Medical School

Johns Hopkins University (PHD)

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

Affiliation History

Harvard Medical School Jul 01 2010

United States

Sir Edwin & Lady Manton Professor :: Pediatrics

Boston Children's Hospital Jul 01 2008

United States

Director, Manton Center for Orphan Disease Research :: Medicine (Genetics)

Harvard Medical School Jan 01 2000 - Jun 30 2010

United States

Associate Professor :: Pediatrics

Boston Children's Hospital Jul 01 1992 - Jun 30 2008

United States

Research Associate :: Medicine (Genetics)

Harvard Medical School Jul 01 1993 - Dec 31 1999

United States

Assistant Professor :: Pediatrics

Harvard Medical School Jul 01 1992 - Jun 30 1993

United States

Instructor :: Pediatrics

Harvard Medical School Jul 01 1988 - Jun 30 1992

United States

Fellow :: Pediatrics

Boston Children's Hospital Jul 01 1988 - Jun 30 1992

United States

Research Fellow :: Medicine (Genetics)

Johns Hopkins School of Medicine Oct 13 1987 - Jun 30 1988

United States

Fellow in Pediatric Genetics :: Pediatrics

Education History

Johns Hopkins University

United States

PHD :: Human Genetics

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)
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Carolyn D Applegate, Alan H Beggs, Hans T Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R Finnila, Ralitza Gavrilova, Casie A Genetti, Susan M Hiatt, Friedhelm Hildebrandt, Monica Hsiung Wojcik, Tjitske Kleefstra, Caroline M Kolvenbach, Bruce R Korf, Paul S Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R Blackburn, Margot R F Reijnders, Heiko Martin Reutter, Ina Schanze, Joseph T Shieh, Cathy A Stevens, Zaheer Valivullah, Marie-José H van den Boogaard, Eric W Klee, Philippe M Campeau
A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes 15 (8) (2024)
Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily C Troiano, Shira Rockowitz, Piotr Sliz, Alan H Beggs
Zebrafish and cellular models of SELENON -Related Myopathy exhibit novel embryonic and metabolic phenotypes. 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)
Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci, Rachel Williamson, Catherine Ward-Melver, Marc Gibaud, Lucie Sedláčková, Petra Laššuthová, Zuzana Libá, Markéta Vlčková, Nancy William, Eric W Klee, Ralitza H Gavrilova, Jonathan Lévy, Yline Capri, Mena Scavina, Robert Walter Körner, Zaheer Valuvullah, Claudia Weiß, Greta Marit Möller, Moritz Thiel, Margje Sinnema, Erik-Jan Kamsteeg, Sandra Donkervoort, Veronique Duboc, Khaoula Zaafrane-Khachnaoui, Nour Elkhateeb, Laila Selim, Henri Margot, Victor Marin, Claire Beneteau, Bertrand Isidor, Benjamin Cogne, Boris Keren, Benno Küsters, Alan H Beggs, Casie A Genetti, Joost Nicolai, Jörg Dötsch, Anne Koy, Carsten G Bönnemann, Maja von der Hagen, Jürgen-Christoph von Kleist-Retzow, Nicol Voermans, Heinz Jungbluth, Hormos Salimi Dafsari
The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain : a journal of neurology (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)
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)
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)
Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily C Troiano, Shira Rockowitz, Piotr Sliz, Alan H Beggs
Zebrafish and cellular models of SELENON -Related Myopathy exhibit novel embryonic and metabolic phenotypes. bioRxiv : the preprint server for biology (2024)
Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily C Troiano, Shira Rockowitz, Piotr Sliz, Alan H Beggs
Zebrafish and cellular models of SELENON -Related Myopathy exhibit novel embryonic and metabolic phenotypes. bioRxiv : the preprint server for biology (2024)
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Carolyn D Applegate, Alan H Beggs, Hans T Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R Finnila, Ralitza Gavrilova, Casie A Genetti, Susan M Hiatt, Friedhelm Hildebrandt, Monica Hsiung Wojcik, Tjitske Kleefstra, Caroline M Kolvenbach, Bruce R Korf, Paul S Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R Blackburn, Margot R F Reijnders, Heiko Martin Reutter, Ina Schanze, Joseph T Shieh, Cathy A Stevens, Zaheer Valivullah, Marie-José H van den Boogaard, Eric W Klee, Philippe M Campeau
A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes 15 (8) (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)
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)
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illig, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe, null null
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules 13 (1) (2023)
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illig, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe, null null
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules 13 (1) (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illig, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe, null null
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules 13 (1) (2023)
Emma Rybalka, Stephanie Kourakis, Charles A Bonsett, Behzad Moghadaszadeh, Alan H Beggs, Cara A Timpani
Adenylosuccinic Acid: An Orphan Drug with Untapped Potential. Pharmaceuticals (Basel, Switzerland) 16 (6) (2023)
Qifei Li, Rohan Agrawal, Klaus Schmitz-Abe, Casie A Genetti, Melissa A Fernandes, Noah L Fryou, Jill A Madden, Catherine A Brownstein, Edward C Smith, Farrah Rajabi, Alan H Beggs, Pankaj B Agrawal
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. European journal of human genetics : EJHG (2023)
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illig, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe, null null
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules 13 (1) (2023)
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illig, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe, null null
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules 13 (1) (2023)
Robert J Graham, Basil T Darras, Tmirah Haselkorn, Dan Fisher, Casie A Genetti, Weston Miller, Alan H Beggs
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. Orphanet journal of rare diseases 18 (1) (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Emma Rybalka, Stephanie Kourakis, Charles A Bonsett, Behzad Moghadaszadeh, Alan H Beggs, Cara A Timpani
Adenylosuccinic Acid: An Orphan Drug with Untapped Potential. Pharmaceuticals (Basel, Switzerland) 16 (6) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N Yu, Stuart Bauer, Charles Berde, Pankaj B Agrawal, Alan H Beggs, Ali G Gharavi, Louis Kunkel, Catherine A Brownstein
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced genetics (Hoboken, N.J.) 4 (1) (2022)
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N Yu, Stuart Bauer, Charles Berde, Pankaj B Agrawal, Alan H Beggs, Ali G Gharavi, Louis Kunkel, Catherine A Brownstein
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced genetics (Hoboken, N.J.) 4 (1) (2022)
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N Yu, Stuart Bauer, Charles Berde, Pankaj B Agrawal, Alan H Beggs, Ali G Gharavi, Louis Kunkel, Catherine A Brownstein
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced genetics (Hoboken, N.J.) 4 (1) (2022)
Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A Genetti, Heather L Paterson, Belinda S Cowling, Christian Freitag, Alan H Beggs
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy. Neurology. Genetics 8 (6) (2022)
Yuxuan Guo, Yangpo Cao, Blake D Jardin, Isha Sethi, Qing Ma, Behzad Moghadaszadeh, Emily C Troiano, Neil Mazumdar, Michael A Trembley, Eric M Small, Guo-Cheng Yuan, Alan H Beggs, William T Pu
Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proceedings of the National Academy of Sciences of the United States of America 118 (2) (2021)
Johannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, Ethan H Steinberg, Karthik A Jagadeesh, Alexander J Ratner, Harendra Guturu, Aaron M Wenger, Mark E Diekhans, Peter D Stenson, David N Cooper, Christopher Ré, Alan H Beggs, Jonathan A Bernstein, Gill Bejerano
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science translational medicine 12 (544) (2021)
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Journal of medical Internet research 23 (3) (2021)
Ingrid A Holm, Kurt D Christensen, Melissa K Uveges, Susan E Waisbren, Amy L McGuire, Stacey Pereira, Jill Oliver Robinson, Alan H Beggs, Robert C Green, null null, Gloria A Bachmann, Arnold B Rabson, Ingrid A Holm
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. Journal of genetic counseling (2021)
Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H Beggs, Carsten G Bonnemann, Michael Brudno, Andrei Constantinescu, Jahannaz Dastgir, Mamadou Diallo, Casie A Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S Jain, Michael W Lawlor, Oscar H Meyer, Leslie L Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H Wang, James J Dowling
A Cross-Sectional Study of Nemaline Myopathy. Neurology 96 (10) (2021)
David Pellerin, Asli Aykanat, Benjamin Ellezam, Emily C Troiano, Jason Karamchandani, Marie-Josée Dicaire, Marc Petitclerc, Rebecca Robertson, Xavier Allard-Chamard, Denis Brunet, Chamindra G Konersman, Jean Mathieu, Jodi Warman Chardon, Vandana A Gupta, Alan H Beggs, Bernard Brais, Nicolas Chrestian
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Annals of neurology 87 (4) (2020)
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al-Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Annals of clinical and translational neurology 7 (11) (2020)
Shira Rockowitz, Nicholas LeCompte, Mary M Carmack, Andrew Quitadamo, Lily Wang, Meredith Park, Devon Knight, Emma Sexton, Lacey Smith, Beth Sheidley, Michael Field, Ingrid A Holm, Catherine A Brownstein, Pankaj B Agrawal, Susan Kornetsky, Annapurna H Poduri, Scott B Snapper, Alan H Beggs, Timothy W Yu, David A Williams, Piotr Sliz
Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ genomic medicine 5 (2020)
Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z Abdel-Hamid, David Lacomis, Alan H Beggs
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harbor molecular case studies 5 (4) (2019)
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, Neeharika Nori, Jill A Madden, Casie A Genetti, Monica H Wojcik, Sadhana Ponnaluri, Cynthia S Gubbels, Jonathan D Picker, Anne H O'Donnell-Luria, Timothy W Yu, Olaf Bodamer, Catherine A Brownstein, Alan H Beggs, Pankaj B Agrawal
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European journal of human genetics : EJHG 27 (9) (2019)
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John Edward Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam M Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Annals of neurology 83 (6) (2019)
Laura V Milko, Flavia Chen, Kee Chan, Amy M Brower, Pankaj B Agrawal, Alan H Beggs, Jonathan S Berg, Steven E Brenner, Ingrid A Holm, Barbara A Koenig, Richard B Parad, Cynthia M Powell, Stephen F Kingsmore
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ genomic medicine 4 (2019)
Laura V Milko, Flavia Chen, Kee Chan, Amy M Brower, Pankaj B Agrawal, Alan H Beggs, Jonathan S Berg, Steven E Brenner, Ingrid A Holm, Barbara A Koenig, Richard B Parad, Cynthia M Powell, Stephen F Kingsmore
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ genomic medicine 4 (1) (2019)
Rocio Nur Villar Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B Romero, Alan H Beggs, Laurent Servais, Mireille Cossee, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Annals of neurology 87 (2) (2019)
Robert J Graham, Francesco Muntoni, Imelda Hughes, Sabrina W Yum, Nancy L Kuntz, Michele L Yang, Barry J Byrne, Suyash Prasad, Rachel Alvarez, Casie A Genetti, Tmirah Haselkorn, Emma S James, Laurie B LaRusso, Mojtaba Noursalehi, Salvador Rico, Alan H Beggs
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Archives of disease in childhood 105 (4) (2019)
Kenneth D Mandl, Tracy A Glauser, Ian D Krantz, Paul Avillach, Anna Bartels, Alan H Beggs, Sawona Biswas, Florence T Bourgeois, Jeremy J Corsmo, Andrew Dauber, Batsal Devkota, Gary R Fleisher, Allison P Heath, Ingo Helbig, Joel N Hirschhorn, Judson Kilbourn, Sek Won Kong, Susan Kornetsky, Joseph A Majzoub, Keith A Marsolo, Lisa J Martin, Jeremy Nix, Amy Schwarzhoff, Jason Stedman, Arnold Strauss, Kristen L Sund, Deanne M Taylor, Peter S White, Eric D Marsh, Adda Grimberg, Colin Patrick Hawkes, null null
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Cynthia P Hsu, Behzad Moghadaszadeh, John H Hartwig, Alan H Beggs
Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines. Cytoskeleton (Hoboken, N.J.) 75 (5) (2018)
Alexis H Bennett, Marie-Françoise O'Donohue, Stacey R Gundry, Aye T Chan, Jeffrey Widrick, Isabelle Draper, Anirban Chakraborty, Yi Zhou, Leonard I Zon, Pierre-Emmanuel Gleizes, Alan H Beggs, Vandana A Gupta
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. PLoS genetics 14 (3) (2018)
Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, Sylvia J P Bogaards, Igor Kovacevic, Albert Kalganov, Malin Persson, Johan Lindqvist, Ger J M Stienen, Thomas C Irving, Weikang Ma, Michaela Yuen, Nigel F Clarke, Dilson Etcheverry Rassier, Edoardo Malfatti, Norma B Romero, Alan H Beggs, Coen A C Ottenheijm
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Annals of neurology 83 (2) (2018)
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan D Gonorazky, Kristl Claeys, Himanshu Joshi, Adam M Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, null null, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine 9 (386) (2017)
Alan H Beggs, Barry J Byrne, Sabine De Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma S James, Nancy L Kuntz, Jennifer Simon, Lindsay C Swanson, Michele L Yang, Zi-Fan Yu, Sabrina W Yum, Suyash Prasad
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle & nerve 57 (4) (2017)
Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, Timothy W Yu, Pankaj B Agrawal, Richard B Parad, Ingrid A Holm, Amy McGuire, Robert C Green, Alan H Beggs, Heidi L Rehm
A curated gene list for reporting results of newborn genomic sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (7) (2017)
Leif S Ludwig, Hanna T Gazda, Jennifer C Eng, Stephen W Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy I George, Jason R Gotlib, Alan H Beggs, Colin A Sieff, Harvey F Lodish, Eric S Lander, Vijay G Sankaran
Altered translation of GATA1 in Diamond-Blackfan anemia. Nature medicine 20 (7) (2014)

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Alan H Beggs