Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

por Lyon, Gholson J, Wang, Kai
Publicado 2012

NAA10-related syndrome

por Wu, Yiyang, Lyon, Gholson J.
Publicado 2018

Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape()

por Lyon, Gholson J., Segal, Jeremy P.
Publicado 2013

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

por Wei, Zhi, Wang, Wei, Hu, Pingzhao, Lyon, Gholson J., Hakonarson, Hakon
Publicado 2011

SeqMule: automated pipeline for analysis of human exome/genome sequencing data

por Guo, Yunfei, Ding, Xiaolei, Shen, Yufeng, Lyon, Gholson J., Wang, Kai
Publicado 2015

Proteomic and genomic characterization of a yeast model for Ogden syndrome

por Dörfel, Max J., Fang, Han, Crain, Jonathan, Klingener, Michael, Weiser, Jake, Lyon, Gholson J.
Publicado 2016

Early-onset cerebellar ataxia in a patient with CMT2A2

por Madrid, Ricardo, Guariglia, Sara R., Haworth, Andrea, Korosh, William, Gavin, Maureen, Lyon, Gholson J.
Publicado 2020

“Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

por Shi, Lingling, Li, Bingxiao, Huang, Yonglan, Ling, Xueying, Liu, Tianyun, Lyon, Gholson J, Xu, Anding, Wang, Kai
Publicado 2014

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline

por Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J.
Publicado 2015

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

por Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Publicado 2017

KBG syndrome involving a single-nucleotide duplication in ANKRD11

por Kleyner, Robert, Malcolmson, Janet, Tegay, David, Ward, Kenneth, Maughan, Annette, Maughan, Glenn, Nelson, Lesa, Wang, Kai, Robison, Reid, Lyon, Gholson J.
Publicado 2016

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity

por Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J.
Publicado 2022

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

por O’Rawe, Jason A., Fang, Han, Rynearson, Shawn, Robison, Reid, Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J.
Publicado 2013

Whole-genome sequencing in an autism multiplex family

por Shi, Lingling, Zhang, Xu, Golhar, Ryan, Otieno, Frederick G, He, Mingze, Hou, Cuiping, Kim, Cecilia, Keating, Brendan, Lyon, Gholson J, Wang, Kai, Hakonarson, Hakon
Publicado 2013

SCN8A mutation in a child presenting with seizures and developmental delays

por Malcolmson, Janet, Kleyner, Robert, Tegay, David, Adams, Whit, Ward, Kenneth, Coppinger, Justine, Nelson, Lesa, Meisler, Miriam H., Wang, Kai, Robison, Reid, Lyon, Gholson J.
Publicado 2016

Evaluating possible maternal effect lethality of Naa10 knockout mice, and modulation of phenotypes for embryonic and neonatal lethality by genetic background and environment

por Lyon, Gholson J., Longo, Joseph, Garcia, Andrew, Inusa, Fatima, Marchi, Elaine, Shi, Daniel, Dörfel, Max, Arnesen, Thomas, Aldabe, Rafael, Lyons, Scott, Nashat, Melissa, Bolton, David
Publicado 2023

Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells

por Belbachir, Nadjet, Wu, Yiyang, Shen, Mengcheng, Zhang, Sophia L., Zhang, Joe Z., Liu, Chun, Knollmann, Bjorn C., Lyon, Gholson J., Ma, Ning, Wu, Joseph C.
Publicado 2023

Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly

por Narzisi, Giuseppe, O'Rawe, Jason A., Iossifov, Ivan, Fang, Han, Lee, Yoon-ha, Wang, Zihua, Wu, Yiyang, Lyon, Gholson J., Wigler, Michael, Schatz, Michael C.
Publicado 2014

Reducing INDEL calling errors in whole genome and exome sequencing data

por Fang, Han, Wu, Yiyang, Narzisi, Giuseppe, O’Rawe, Jason A, Barrón, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Iossifov, Ivan, Schatz, Michael C, Lyon, Gholson J
Publicado 2014

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

por Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
Publicado 2013