Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome by Julia Whittle, Aaron Johnson, Matthew B. Dobbs, Christina A. Gurnett

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Novel SCN3A variants associated with focal epilepsy in children by Carlos G. Vanoye, Christina A. Gurnett, Katherine D. Holland, Alfred L. George, Jr., Jennifer A. Kearney

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A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis by Nelson L. S. Tang, Matthew B. Dobbs, Christina A. Gurnett, Yong Qiu, T. P. Lam, Jack C. Y. Cheng, Nancy Hadley-Miller

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A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis by Jennifer McAdow, Shuo Yang, Tiffany Ou, Gary Huang, Matthew B. Dobbs, Christina A. Gurnett, Michael J. Greenberg, Aaron N. Johnson

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MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin by Julia Whittle, Lilian Antunes, Mya Harris, Zachary Upshaw, Diane S Sepich, Aaron N Johnson, Mayssa Mokalled, Lilianna Solnica‐Krezel, Matthew B Dobbs, Christina A Gurnett

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Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders by Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons

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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. by Mia J Konjikusic, Patra Yeetong, Curtis W Boswell, Chanjae Lee, Elle C Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian Ciruna, Christina A Gurnett, John B Wallingford, Vorasuk Shotelersuk, Ryan S Gray

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes. by Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone, Laura J Bierut

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SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities by Michael R. Sherby, Tyler J. Walsh, Albert M. Lai, Julie A. Neidich, Joyce E. Balls-Berry, Stephanie M. Morris, Richard Head, Christopher G. Prener, Jason G. Newland, Christina A. Gurnett, for the COMPASS-T Study Group

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Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks by S. Vijayalingam, Uthayashanker R. Ezekiel, Fenglian Xu, T. Subramanian, Elizabeth Geerling, Brittany Hoelscher, KayKay San, Aravinda Ganapathy, Kyle Pemberton, Eric Tycksen, Amelia K. Pinto, James D. Brien, David B. Beck, Wendy K. Chung, Christina A. Gurnett, G. Chinnadurai

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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome by Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett

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The Brain Gene Registry: a data snapshot by Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, the Brain Gene Registry Consortium, John N. Constantino, Joseph Piven, Christina A. Gurnett, Maya Chopra, Heather Hazlett, Philip R. O. Payne

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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis by Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise

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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions by Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

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Diverse monogenic subforms of human spermatogenic failure by Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay I. Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad

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