Publication
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhas, Stephanie Fox, Jane Juusola, Majid Alfadhel, Bryn D Webb, Emanuele G Coci, Rami Abou Jamra, Manuela Siekmeyer, Saskia Biskup, Corina Heller, Esther M Maier, Poupak Javaher-Haghighi, Maria F Bedeschi, Paola F Ajmone, Maria Iascone, Hilde Peeters, Katleen Ballon, Jaak Jaeken, Aroa Rodríguez Alonso, María Palomares-Bralo, Fernando Santos-Simarro, Marije E C Meuwissen, Diane Beysen, R Frank Kooy, Henry Houlden, David Murphy, Mohammad Doosti, Ehsan G Karimiani, Majid Mojarrad, Reza Maroofian, Lenka Noskova, Stanislav Kmoch, Tomas Honzik, Heidi Cope, Amarilis Sanchez-Valle, Maria T Acosta, Margaret Adam, David R Adams, Pankaj B Agrawal, Mercedes E Alejandro, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A Ashley, Mahshid S Azamian, Carlos A Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F Batzli, Pinar Bayrak-Toydemir, Anita Beck, Alan H Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A Bernstein, Gerard T Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A Burke, Lindsay C Burrage, Manish J Butte, Peter Byers, William E Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D Clark, Terra R Coakley, Laurel A Cobban, Joy D Cogan, F Sessions Cole, Heather A Colley, Cynthia M Cooper, Heidi Cope, William J Craigen, Andrew B Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G Dayal, Matthew Deardorff, Esteban C Dell’Angelica, Shweta U Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D Douine, David D Draper, Laura Duncan, Dawn Earl, David J Eckstein, Lisa T Emrick, Christine M Eng, Cecilia Esteves, Tyra Estwick, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L Fieg, Paul G Fisher, Brent L Fogel, Irman Forghani, Laure Fresard, William A Gahl, Ian Glass, Rena A Godfrey, Katie Golden-Grant, Alica M Goldman, David B Goldstein, Alana Grajewski, Catherine A Groden, Andrea L Gropman, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Neil A Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M Hisama, Ingrid A Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Gail P Jarvik, Jeffrey Jarvik, Suman Jayadev, Jean M Johnston, Lefkothea Karaviti, Emily G Kelley, Jennifer Kennedy, Dana Kiley, Isaac S Kohane, Jennefer N Kohler, Deborah Krakow, Donna M Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Joel B Krier, Seema R Lalani, Byron Lam, Christina Lam, Brendan C Lanpher, Ian R Lanza, C Christopher Lau, Kimberly LeBlanc, Brendan H Lee, Hane Lee, Roy Levitt, Richard A Lewis, Sharyn A Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K Loo, Joseph Loscalzo, Richard L Maas, Ellen F Macnamara, Calum A MacRae, Valerie V Maduro, Marta M Majcherska, May Christine V Malicdan, Laura A Mamounas, Teri A Manolio, Rong Mao, Kenneth Maravilla, Thomas C Markello, Ronit Marom, Gabor Marth, Beth A Martin, Martin G Martin, Julian A Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E McCormack, Alexa T McCray, Elisabeth McGee, Heather Mefford, J Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava-Kozicz, Paolo M Moretti, Marie Morimoto, John J Mulvihill, David R Murdock, Mariko Nakano-Okuno, Avi Nath, Stan F Nelson, John H Newman, Sarah K Nicholas, Deborah Nickerson, Donna Novacic, Devin Oglesbee, James P Orengo, Laura Pace, Stephen Pak, J Carl Pallais, Christina GS Palmer, Jeanette C Papp, Neil H Parker, John A Phillips III, Jennifer E Posey, Lorraine Potocki, Barbara N Pusey, Aaron Quinlan, Wendy Raskind, Archana N Raja, Genecee Renteria, Chloe M Reuter, Lynette Rives, Amy K Robertson, Lance H Rodan, Jill A Rosenfeld, Natalie Rosenwasser, Robb K Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B Sampson, Susan L Samson, Mario Saporta, C Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A Scott, Prashant Sharma, Vandana Shashi, Jimann Shin, Rebecca Signer, Catherine H Sillari, Edwin K Silverman, Janet S Sinsheimer, Kathy Sisco, Edward C Smith, Kevin S Smith, Emily Solem, Lilianna Solnica-Krezel, Rebecca C Spillmann, Joan M Stoler, Nicholas Stong, Jennifer A Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A Sweetser, Virginia Sybert, Holly K Tabor, Cecelia P Tamburro, Queenie K -G Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J Tifft, Camilo Toro, Alyssa A Tran, Brianna M Tucker, Tiina K Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P Vogel, Colleen E Wahl, Stephanie Wallace, Nicole M Walley, Chris A Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F Wangler, Patricia A Ward, Daniel Wegner, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T Wheeler, Jordan Whitlock, Lynne A Wolfe, Jeremy D Woods, Shinya Yamamoto, John Yang, Guoyun Yu, Diane B Zastrow, Chunli Zhao, Stephan Zuchner, Bruce D Gelb, Ingo Kurth, Maja Hempel, Kerstin Kutsche
Brain, August 2020, Oxford University Press (OUP)
DOI: 10.1093/brain/awaa204