Performance of SM8 on a Test To Predict Small-Molecule Solvation Free Energies

por Chamberlin, Adam C., Cramer, Christopher J., Truhlar, Donald G.
Publicado 2008

Rehabilitating drug-induced long-QT promoters: In-silico design of hERG-neutral cisapride analogues with retained pharmacological activity

por Durdagi, Serdar, Randall, Trevor, Duff, Henry J, Chamberlin, Adam, Noskov, Sergei Y
Publicado 2014

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

por Scott, Anthony, Hernandez, Felicia, Chamberlin, Adam, Smith, Cathy, Karam, Rachid, Kitzman, Jacob O.
Publicado 2022

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis

por Patel, Jignesh K., Rosen, Andrew M., Chamberlin, Adam, Feldmann, Benjamin, Antolik, Christian, Zimmermann, Heather, Johnston, Tami, Narayana, Arvind
Publicado 2022

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

por Peng, Yanyan, Shinde, Deepali N, Alexander Valencia, C, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng
Publicado 2018

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

por Tian, Yuan, Pesaran, Tina, Chamberlin, Adam, Fenwick, R. Bryn, Li, Shuwei, Gau, Chia-Ling, Chao, Elizabeth C., Lu, Hsiao-Mei, Black, Mary Helen, Qian, Dajun
Publicado 2019

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

por Richardson, Marcy E., Chong, Hansook, Mu, Wenbo, Conner, Blair R., Hsuan, Vickie, Willett, Sara, Lam, Stephanie, Tsai, Pei, Pesaran, Tina, Chamberlin, Adam C., Park, Min-Sun, Gray, Phillip, Karam, Rachid, Elliott, Aaron
Publicado 2018

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

por Richardson, Marcy E., Chong, Hansook, Mu, Wenbo, Conner, Blair R., Hsuan, Vickie, Willett, Sara, Lam, Stephanie, Tsai, Pei, Pesaran, Tina, Chamberlin, Adam C., Park, Min-Sun, Gray, Phillip, Karam, Rachid, Elliott, Aaron
Publicado 2018

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

por Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Publicado 2016

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

por Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
Publicado 2017