Acorn: an R package for de novo variant analysis

by Tychele N. Turner
Published 2023-09-01

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

by Ashley N. Hall, Tychele N. Turner, Christine Queitsch
Published 2021-01-01

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

by Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe, Evan E. Eichler
Published 2017-11-01

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

by Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael A. Bernier
Published 2017-10-01

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

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

by Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner, John N. Constantino, Kristen L. Kroll
Published 2021-07-01

From karyotypes to precision genomics in 9p deletion and duplication syndromes

by Eleanor I. Sams, Jeffrey K. Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D. Mitra, F. Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner
Published 2022-01-01

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
Published 2023-05-01

De novo genic mutations among a Chinese autism spectrum disorder cohort

by Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Min Long, Janice Lin, Zev N. Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler
Published 2016-11-01

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

by Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Published 2021-07-01