William A Gahl (William Gahl)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 23

Top Topics

Intellectual Disability

Duchenne Muscular Dystrophy

Top Venues

Cellular and molecular life sciences : CMLS

Science advances

Science translational medicine

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

Publications

Sebastian Ochoa, Amy P Hsu, Andrew J Oler, Dhaneshwar Kumar, Daniel Chauss, Jan Piet van Hamburg, Gustaaf G van Laar, Vasileios Oikonomou, Sundar Ganesan, Elise M N Ferré, Monica M Schmitt, Thomas DiMaggio, Princess Barber, Gregory M Constantine, Lindsey B Rosen, Paul G Auwaerter, Bhumika Gandhi, Jennifer L Miller, Rachel Eisenberg, Arye Rubinstein, Edith Schussler, Erjola Balliu, Vandana Shashi, Marta Aboza Garcia, Peter Olbrich, Kim My Le, Nanni Mamia, Saila Laakso, Pasi I Nevalainen, Juha Grönholm, Mikko R J Seppänen, Louis Boon, Gulbu Uzel, Luis Miguel Franco, Theo Heller, Karen K Winer, Rajarshi Ghosh, Bryce A Seifert, Magdalena Walkiewicz, Luigi Daniele Notarangelo, Qing Zhou, Ivona Aksentijevich, William A Gahl, Cliffton L Dalgard, Lalith Perera, Behdad Afzali, Sander W Tas, Steven M Holland, Michail S Lionakis
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion. Science translational medicine 16 (765) (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine C Malicdan
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (2) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine V Malicdan
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (3) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine C Malicdan
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (2) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine C Malicdan
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (2) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine V Malicdan
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (2) (2023)
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of medical genetics (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Ela Curic, Lisa Jean Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D Botto, Ann Nordgren, William A Gahl, Emma Elizabeth Palmer
International Undiagnosed Diseases Programs (UDPs): components and outcomes. Orphanet journal of rare diseases 18 (1) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine V Malicdan
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (3) (2023)
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony C Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael Emmerson Ward, William A Gahl, Prashant Sharma, May Christine C Malicdan
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and molecular life sciences : CMLS 80 (2) (2023)
Iris R Hartley, Rachel I Gafni, Kelly Lauter Roszko, Sydney M Brown, Luis Fernandez de Castro, Amanda Saikali, Carlos R Ferreira, William A Gahl, Karel Pacak, Jenny E Blau, Alison M Boyce, Isidro B Salusky, Michael T Collins, Pablo Florenzano
Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (11) (2022)
Carolina Montano, Thomas A Cassini, Shira G Ziegler, Manfred Boehm, Elena-Raluca Nicoli, Joseph A Mindell, Ariane G Soldatos, Irini Manoli, Lynne A Wolfe, Ellen F Macnamara, May Christine V Malicdan, David R Adams, Cynthia J Tifft, Camilo Toro, William A Gahl
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. Journal of inherited metabolic disease 45 (5) (2022)
Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Féodora L Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C Markello, David R Adams, William A Gahl, Christine S Cheng, Uwe Beffert, Angela Ho
FOXR1 regulates stress response pathways and is necessary for proper brain development. PLoS genetics 17 (11) (2021)
Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A Wolfe, Joshi Stephen, David R Adams, Thomas C Markello, Cynthia J Tifft, Robert Settlage, William A Gahl, Graydon B Gonsalvez, May Christine V Malicdan, Heather Flanagan-Steet, Yuchin Albert Pan
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Disease models & mechanisms 13 (5) (2020)
Bernardo Blanco-Sánchez, Aurélie Clément, Sarah Josephine Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen F Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, null null, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS genetics 16 (6) (2020)
Chia-Ying Liu, Jianhua Yao, William C Kovacs, Joseph A Shrader, Galen Joe, Ronald Ouwerkerk, Ami K Mankodi, William A Gahl, Ronald M Summers, Nuria Carrillo-Carrasco
Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. Neurology 96 (5) (2020)
Christoph Klein, William A Gahl
Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments. EMBO molecular medicine 10 (1) (2019)
Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS genetics 15 (5) (2019)
Shira G Ziegler, Carlos R Ferreira, Elena Gallo MacFarlane, Ryan C Riddle, Ryan E Tomlinson, Emily Y Chew, Ludovic Martin, Chen-Ting Ma, Eduard Sergienko, Anthony B Pinkerton, José Luis Millán, William A Gahl, Harry C Dietz
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Science translational medicine 9 (393) (2018)