Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Rebelo, Adriana P. ; Jeanne, Médéric ; Danzi, Matt C. ; Tekin, Mustafa ; Acosta, Maria T. ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Butte, Manish J. ; Byrd, William E. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corner, Brian ; Dai, Hongzheng ; Davis, Joie ; Delgado, Margaret ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Fisher, Paul G. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Izumi, Kosuke ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Ketkar, Shamika ; Kohler, Jennefer N. ; Kravets, Elijah ; Lalani, Seema R. ; Latchman, Kumarie ; LeBlanc, Kimberly ; Lewis, Richard A. ; Liu, Pengfei ; Loo, Sandra K. ; MacRae, Calum A. ; Maghiro, AudreyStephannie C. ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McConkie‐Rosell, Allyn ; Morava, Eva ; Moretti, Paolo ; Morimoto, Marie ; Neumann, Serena ; Novacic, Donna ; Oglesbee, Devin ; Papp, Jeanette C. ; Petcharet, Leoyklang ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Carson A. ; Smith, Kevin S. ; Solomon, Ben ; Stergachis, Andrew ; Sullivan, Kathleen ; Tabor, Holly K. ; Tan, Queenie K.‐G. ; Thorson, Willa ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wenger, Tara ; Westerfield, Monte ; Worley, Kim

United States: John Wiley and Sons Inc

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Donkervoort, Sandra ; Mohassel, Payam ; Brull, Astrid ; Mozaffar, Tahseen ; Dyment, David A. ; Pajusalu, Sander ; Hurth, Kyle ; McWalter, Kirsty ; Warman‐Chardon, Jodi ; Crunk, Amy ; Foley, A. Reghan ; Allworth, Aimee ; Andrews, Ashley ; Bacino, Carlos A. ; Bademci, Guney ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Beggs, Alan H. ; Berry, Gerard T. ; Bivona, Stephanie ; Blue, Elizabeth ; Brown, Gabrielle ; Butte, Manish J. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Chinn, Ivan ; Cogan, Joy D. ; Coggins, Matthew ; Corona, Rosario ; Crouse, Andrew B. ; Dai, Hongzheng ; Davis, Joie ; Douine, Emilie D. ; Emrick, Lisa T. ; Fu, Jiayu ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Horike‐Pyne, Martha ; Huang, Yan ; Hutchison, Sarah ; Kilich, Gonench ; Kobren, Shilpa N. ; Krakow, Deborah ; Krasnewich, Donna M. ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Liu, Pengfei ; Longo, Nicola ; Maduro, Valerie V. ; Manolio, Teri A. ; Mao, Rong ; Marom, Ronit ; Martin, Beth A. ; Martin, Martin G. ; Marwaha, Shruti ; McConkie‐Rosell, Allyn ; McGee, Elisabeth ; Miller, Danny ; Mirzaa, Ghayda ; Nakano‐Okuno, Mariko ; Nelson, Stanley F. ; Nieves‐Rodriguez, Shirley ; Pallais, J. Carl ; Petcharet, Leoyklang ; Phillips, John A. ; Quinlan, Aaron ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Solomon, Ben ; Sullivan, Kathleen ; Sutton, Shirley ; Tan, Queenie K.‐G. ; Amelia, L. M. Tan ; Taylor, Herman ; Tekin, Mustafa ; Toro, Camilo ; Ungar, Rachel A. ; Vanderver, Adeline ; Walker, Melissa ; Wang, Lee‐kai ; Wangler, Michael F. ; Wegner, Daniel ; Wener, Mark ; Westerfield, Monte ; Whitlock, Jordan ; Wolfe, Lynne A. ; Worley, Kim ; Yamamoto, Shinya ; Zhang, Zhe ; Mammen, Andrew L. ; O'Donnell‐Luria, Anne

United States: John Wiley & Sons, Inc

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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Macnamara, Ellen F. ; D'Souza, Precilla ; Vezina, Gilbert ; Tifft, Cynthia J. ; Adams, David R. ; Azamian, Mahshid S. ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Boyd, Brenna ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byrd, William E. ; Carey, John ; Craigen, William J. ; Cunningham, Michael ; Dayal, Jyoti G. ; Deardorff, Matthew ; Doherty, Daniel ; Dorrani, Naghmeh ; Douine, Emilie D. ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Forghani, Irman ; Fresard, Laure ; Gahl, William A. ; Glass, Ian ; Goldman, Alica M. ; Goldstein, David B. ; Groden, Catherine A. ; Hassey, Kelly ; Horike‐Pyne, Martha ; Huang, Alden ; Huang, Yong ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Johnston, Jean M. ; Kohane, Isaac S. ; Krakow, Deborah ; Kravets, Elijah ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lalani, Seema R. ; Lam, Christina ; Lanpher, Brendan C. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; MacRae, Calum A. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martin, Martin G. ; McCormack, Colleen E. ; McGee, Elisabeth ; Merritt, J. Lawrence ; Might, Matthew ; Mulvihill, John J. ; Nelson, Stan F. ; Nicholas, Sarah K. ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Pusey, Barbara N. ; Quinlan, Aaron ; Raskind, Wendy ; Sacco, Ralph ; Saporta, Mario ; Ron Scott, C. ; Schaechter, Judy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sisco, Kathy ; Smith, Kevin S. ; Stoler, Joan M. ; Stong, Nicholas ; Tamburro, Cecelia P. ; Tekin, Mustafa ; Tifft, Cynthia J. ; Toro, Camilo ; Tucker, Brianna M. ; Vogel, Tiphanie P. ; Wambach, Jennifer ; Wang, Lee‐kai ; Wegner, Daniel ; Wenger, Tara ; Wesseling Perry, Katherine ; Westerfield, Monte ; Wolfe, Lynne A. ; Zuchner, Stephan

United States: John Wiley & Sons, Inc

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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Macnamara, Ellen F. ; McGuire, Peter ; Adam, Margaret ; Alejandro, Mercedes E ; Alvey, Justin ; Ashley, Euan A ; Balasubramanyam, Ashok ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Butte, Manish J ; Chanprasert, Sirisak ; Coakley, Terra R ; Coggins, Matthew ; Cope, Heidi ; Craigen, William J ; Crouse, Andrew B ; Davids, Mariska ; Dayal, Jyoti G ; Dell'Angelica, Esteban C ; Dorrani, Naghmeh ; Draper, David D ; Earl, Dawn ; Eckstein, David J ; Emrick, Lisa T ; Eng, Christine M ; Ferreira, Carlos ; Findley, Laurie C ; Goldman, Alica M ; Groden, Catherine A ; Gropman, Andrea L ; Gutierrez, Irma ; Hanchard, Neil A ; Hassey, Kelly ; Hayes, Nichole ; Hisama, Fuki M ; Holm, Ingrid A ; Hom, Jason ; Horike‐Pyne, Martha ; Huang, Alden ; Isasi, Rosario ; Johnston, Jean M ; Kennedy, Jennifer ; Kiley, Dana ; Kohane, Isaac S ; Krier, Joel B ; Lee, Hane ; Liu, Xue Zhong ; Maas, Richard L ; Macnamara, Ellen F. ; MacRae, Calum A ; Mak, Bryan ; Manolio, Teri A ; Marom, Ronit ; Marth, Gabor ; Martínez‐Agosto, Julian A ; McConkie‐Rosell, Allyn ; McCormack, Colleen E ; McCray, Alexa T ; McGee, Elisabeth ; Might, Matthew ; Mirzaa, Ghayda ; Mulvihill, John J ; Nelson, Stan F ; Nickerson, Deborah ; Nieves‐Rodriguez, Shirley ; Phillips, John A. ; Pusey, Barbara N ; Raskind, Wendy ; Raja, Archana N ; Robertson, Amy K ; Rodan, Lance H ; Ruzhnikov, Maura ; Sampson, Jacinda B ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, Daryl A ; Shin, Jimann ; Signer, Rebecca ; Sinsheimer, Janet S ; Solem, Emily ; Sullivan, Jennifer A ; Sun, Angela ; Telischi, Fred ; Toro, Camilo ; Tran, Alyssa A ; Wang, Lee‐kai ; Wangler, Michael F ; Ward, Patricia A ; Perry, Katherine Wesseling ; Westerfield, Monte ; Whitlock, Jordan ; Woods, Jeremy D ; Yamamoto, Shinya ; Yu, Guoyun

United States: John Wiley & Sons, Inc

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Cenomanian ammonite faunas from the Woodbine formation and lower part of the Eagle Ford group, Texas

KENNEDY, W. J ; COBBAN, W. A

London: Palaeontological Association

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Cenomanian micromorphic ammonites from the western interior of the USA

KENNEDY, W. J ; COBBAN, W. A

London: Palaeontological Association

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Perspectives of ammonite paleobiology from shell abnormalities in the genus Baculites

Henderson, R.A. ; Kennedy, W.J. ; Cobban, W.A.

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Cope, Heidi ; Hoppman, Nicole ; Rehder, Catherine ; Alkelai, Anna ; Vilain, Eric ; Shashi, Vandana ; Acosta, Maria T ; Adams, David R ; Amendola, Laura ; Andrews, Ashley ; Bacino, Carlos A. ; Baker, Eva ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Brokamp, Elly ; Brown, Gabrielle ; Carrasquillo, Olveen ; Chao, Hsiao‐Tuan ; Cobban, Laurel A. ; Cogan, Joy D. ; Crouse, Andrew B. ; Cunningham, Michael ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Deardorff, Matthew ; Douine, Emilie D. ; Draper, David D. ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fogel, Brent L. ; Fresard, Laure ; Golden‐Grant, Katie ; Goldrich, Madison P ; Grajewski, Alana ; High, Frances ; Hisama, Fuki M. ; Holm, Ingrid A. ; Isasi, Rosario ; Jarvik, Gail P. ; Jayadev, Suman ; Karaviti, Lefkothea ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Kravets, Elijah ; Lam, Byron ; Lam, Christina ; Lee, Hane ; Levitt, Roy ; Liu, Pengfei ; Longo, Nicola ; Majcherska, Marta M. ; Manolio, Teri A. ; Mao, Rong ; Martínez‐Agosto, Julian A. ; Marwaha, Shruti ; McCauley, Jacob ; McCray, Alexa T. ; McGee, Elisabeth ; Mefford, Heather ; Mirzaa, Ghayda ; Mosbrook‐Davis, Deborah ; Newman, John H ; Nickerson, Deborah ; Nieves‐Rodriguez, Shirley ; Orengo, James P. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Raskind, Wendy ; Raja, Archana N. ; Rosenfeld, Jill A. ; Sacco, Ralph ; Sampson, Jacinda B. ; Saporta, Mario ; Schaechter, Judy ; Schoch, Kelly ; Signer, Rebecca ; Sisco, Kathy ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Kathleen ; Tabor, Holly K. ; Tifft, Cynthia J. ; Tucker, Brianna M. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Walsh, Chris A. ; Walker, Melissa ; Wan, Jijun ; Wangler, Michael F. ; Wener, Mark ; Wheeler, Matthew T. ; Whitlock, Jordan ; Yang, John ; Zhao, Chunli

United States: John Wiley & Sons, Inc

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CAMPANIAN TRACHYSCAPHITES-SPINIGER AMMONITE FAUNA IN NORTH-EAST TEXAS

COBBAN, WA ; KENNEDY, WJ

HOBOKEN: Wiley

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