Acorn: an R package for de novo variant analysis

por Turner, Tychele N.
Publicado 2023

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data

por Ng, Jeffrey K., Turner, Tychele N.
Publicado 2023

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

por Hall, Ashley N., Turner, Tychele N., Queitsch, Christine
Publicado 2021

Molecular subtyping and improved treatment of neurodevelopmental disease

por Stessman, Holly A. F., Turner, Tychele N., Eichler, Evan E.
Publicado 2016

Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation

por Ramirez, Erika, Morris, Stephanie M., Turner, Tychele N., Gutmann, David H.
Publicado 2021

A gap-free genome assembly of Chlamydomonas reinhardtii and detection of translocations induced by CRISPR-mediated mutagenesis

por Payne, Zachary L., Penny, Gervette M., Turner, Tychele N., Dutcher, Susan K.
Publicado 2022

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers

por Bewley, Alice F., Akinwe, Titilope M., Turner, Tychele N., Gutmann, David H.
Publicado 2022

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

por Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.
Publicado 2017

ACES: Analysis of Conservation with an Extensive list of Species

por Padhi, Evin M, Ng, Jeffrey K, Mehinovic, Elvisa, Sams, Eleanor I, Turner, Tychele N
Publicado 2021

High Coverage Highly Accurate Long-Read Sequencing of a Mouse Neuronal Cell Line Using the PacBio Revio Sequencer

por Manuel, Juana G., Heins, Hillary B., Crocker, Sandra, Neidich, Julie A., Sadzewicz, Lisa, Tallon, Luke, Turner, Tychele N.
Publicado 2023

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

por Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.
Publicado 2017

Precise breakpoint detection in a patient with 9p– syndrome

por Ng, Jeffrey, Sams, Eleanor, Baldridge, Dustin, Kremitzki, Milinn, Wegner, Daniel J., Lindsay, Tina, Fulton, Robert, Cole, F. Sessions, Turner, Tychele N.
Publicado 2020

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

por Marrus, Natasha, Turner, Tychele N., Forsen, Elizabeth, Bolster, Drew, Marvin, Alison, Whitehouse, Andrew, Klinger, Laura, Gurnett, Christina A., Constantino, J. N.
Publicado 2021

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

por Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., Turner, Tychele N.
Publicado 2022

denovo-db: a compendium of human de novo variants

por Turner, Tychele N., Yi, Qian, Krumm, Niklas, Huddleston, John, Hoekzema, Kendra, F. Stessman, Holly A., Doebley, Anna-Lisa, Bernier, Raphael A., Nickerson, Deborah A., Eichler, Evan E.
Publicado 2017

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

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

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

por Dougherty, Joseph D., Marrus, Natasha, Maloney, Susan E., Yip, Benjamin, Sandin, Sven, Turner, Tychele N., Selmanovic, Din, Kroll, Kristen L., Gutmann, David H., Constantino, John N., Weiss, Lauren A.
Publicado 2022

Excess of rare, inherited truncating mutations in autism

por Krumm, Niklas, Turner, Tychele N., Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P., Stessman, Holly A., He, Zong-Xiao, Leal, Suzanne M., Bernier, Raphael, Eichler, Evan E.
Publicado 2015

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

por Sams, Eleanor I., Ng, Jeffrey K., Tate, Victoria, Claire Hou, Ying-Chen, Cao, Yang, Antonacci-Fulton, Lucinda, Belhassan, Khadija, Neidich, Julie, Mitra, Robi D., Cole, F. Sessions, Dickson, Patricia, Milbrandt, Jeffrey, Turner, Tychele N.
Publicado 2021

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

por Goldmann, Jakob M., Hampstead, Juliet E., Wong, Wendy S.W., Wilfert, Amy B., Turner, Tychele N., Jonker, Marianne A., Bernier, Raphael, Huynen, Martijn A., Eichler, Evan E., Veltman, Joris A., Maxwell, George L., Gilissen, Christian
Publicado 2021