Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome

by Julia Whittle, Aaron Johnson, Matthew B. Dobbs, Christina A. Gurnett
Published 2021-06-01

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
Published 2014-02-01

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
Published 2021-07-01

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

by Natasha Marrus, Tychele N. Turner, Elizabeth Forsen, Drew Bolster, Alison Marvin, Andrew Whitehouse, Laura Klinger, Christina A. Gurnett, J. N. Constantino
Published 2021-09-01

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
Published 2020-11-01

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
Published 2018-11-01

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
Published 2015-01-01

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
Published 2021-09-01

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
Published 2020-10-01

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

by Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A Gurnett, Stefan Schreiber, Alexander G Bassuk, Michel Guipponi, Ulrich Stephani, Ingo Helbig, Evan E Eichler
Published 2010-05-01

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

by Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Published 2018-10-01

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
Published 2012-01-01