A comprehensive list of human microdeletion and microduplication syndromes

por Wetzel, Alyssa S., Darbro, Benjamin W.
Publicado 2022

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

por Pinnaro, Catherina T., Beck, Chloe B., Major, Heather J., Darbro, Benjamin W.
Publicado 2023

Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature

por Leary, Steven, Porterfield, Harry S., Kotlarek, Jaclyn R., Darbro, Benjamin W., Sidhu, Alpa
Publicado 2019

The emerging role of somatic tumor sequencing in the treatment of urothelial cancer

por Wen, Lexiaochuan, Britton, Cameron J., Garje, Rohan, Darbro, Benjamin W., Packiam, Vignesh T.
Publicado 2021

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate

por Darbro, Benjamin W., Singh, Rohini, Zimmerman, M. Bridget, Mahajan, Vinit B., Bassuk, Alexander G.
Publicado 2016

Data on the utilization of paraneoplastic syndrome autoantibody testing at an academic medical center

por Krasowski, Matthew D., Dolezal, Anna, Steussy, Bryan W., Gailey, Michael P., Darbro, Benjamin W.
Publicado 2021

Candidate modifier genes for immune function in 22q11.2 deletion syndrome

por Pinnaro, Catherina T., Henry, Travis, Major, Heather J., Parida, Mrutyunjaya, DesJardin, Lucy E., Manak, John R., Darbro, Benjamin W.
Publicado 2019

Combination therapies for MPNSTs targeting RABL6A-RB1 signaling

por Kohlmeyer, Jordan L., Gordon, David J., Tanas, Munir R., Dodd, Rebecca D., Monga, Varun, Darbro, Benjamin W., Quelle, Dawn E.
Publicado 2021

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

por Cox, Allison J., Grady, Fillan, Velez, Gabriel, Mahajan, Vinit B., Ferguson, Polly J., Kitchen, Andrew, Darbro, Benjamin W., Bassuk, Alexander G.
Publicado 2019

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

por Gonzalez-Alegre, Pedro, Di Paola, Jorge, Wang, Kai, Fabbro, Shay, Yu, Hung-Chun, Shaikh, Tamim H., Darbro, Benjamin W., Bassuk, Alexander G.
Publicado 2014

Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center

por Krasowski, Matthew D, Chudzik, Deborah, Dolezal, Anna, Steussy, Bryan, Gailey, Michael P, Koch, Benjamin, Kilborn, Sara B, Darbro, Benjamin W, Rysgaard, Carolyn D, Klesney-Tait, Julia A
Publicado 2015

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

por Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.
Publicado 2017

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

por Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.
Publicado 2017

G-protein coupled receptor expression patterns delineate medulloblastoma subgroups

por Whittier, Kelsey L, Boese, Erin A, Gibson-Corley, Katherine N, Kirby, Patricia A, Darbro, Benjamin W, Qian, Qining, Ingram, Wendy J, Robertson, Thomas, Remke, Marc, Taylor, Michael D, O’Dorisio, M Sue
Publicado 2013

Longitudinal phenotype development in a minipig model of neurofibromatosis type 1

por Uthoff, Johanna, Larson, Jared, Sato, Takashi S., Hammond, Emily, Schroeder, Kimberly E., Rohret, Frank, Rogers, Christopher S., Quelle, Dawn E., Darbro, Benjamin W., Khanna, Rajesh, Weimer, Jill M., Meyerholz, David K., Sieren, Jessica C.
Publicado 2020

Development and comparison of novel bioluminescent mouse models of pancreatic neuroendocrine neoplasm metastasis

por Kaemmer, Courtney A., Umesalma, Shaikamjad, Maharjan, Chandra K., Moose, Devon L., Narla, Goutham, Mott, Sarah L., Zamba, Gideon K. D., Breheny, Patrick, Darbro, Benjamin W., Bellizzi, Andrew M., Henry, Michael D., Quelle, Dawn E.
Publicado 2021

RABL6A Promotes Pancreatic Neuroendocrine Tumor Angiogenesis and Progression In Vivo

por Maharjan, Chandra K., Umesalma, Shaikamjad, Kaemmer, Courtney A., Muniz, Viviane P., Bauchle, Casey, Mott, Sarah L., Zamba, K. D., Breheny, Patrick, Leidinger, Mariah R., Darbro, Benjamin W., Stephens, Samuel B., Meyerholz, David K., Quelle, Dawn E.
Publicado 2021

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

por Paemka, Lily, Mahajan, Vinit B., Skeie, Jessica M., Sowers, Levi P., Ehaideb, Salleh N., Gonzalez-Alegre, Pedro, Sasaoka, Toshikuni, Tao, Hirotaka, Miyagi, Asuka, Ueno, Naoto, Takao, Keizo, Miyakawa, Tsuyoshi, Wu, Shu, Darbro, Benjamin W., Ferguson, Polly J., Pieper, Andrew A., Britt, Jeremiah K., Wemmie, John A., Rudd, Danielle S., Wassink, Thomas, El-Shanti, Hatem, Mefford, Heather C., Carvill, Gemma L., Manak, J. Robert, Bassuk, Alexander G.
Publicado 2013

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

por Hildebrand, Joanne M., Kauppi, Maria, Majewski, Ian J., Liu, Zikou, Cox, Allison J., Miyake, Sanae, Petrie, Emma J., Silk, Michael A., Li, Zhixiu, Tanzer, Maria C., Brumatti, Gabriela, Young, Samuel N., Hall, Cathrine, Garnish, Sarah E., Corbin, Jason, Stutz, Michael D., Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C., Rigbye, Kristin, Anderton, Holly, Rickard, James A., Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S., Jackson, Victoria E., Czabotar, Peter E., Zhang, Jian-Guo, Varghese, Leila, Allison, Cody C., Pellegrini, Marc, Tannahill, Gillian M., Hatchell, Esme C., Willson, Tracy A., Stockwell, Dina, de Graaf, Carolyn A., Collinge, Janelle, Hilton, Adrienne, Silke, Natasha, Spall, Sukhdeep K., Chau, Diep, Athanasopoulos, Vicki, Metcalf, Donald, Laxer, Ronald M., Bassuk, Alexander G., Darbro, Benjamin W., Fiatarone Singh, Maria A., Vlahovich, Nicole, Hughes, David, Kozlovskaia, Maria, Ascher, David B., Warnatz, Klaus, Venhoff, Nils, Thiel, Jens, Biben, Christine, Blum, Stefan, Reveille, John, Hildebrand, Michael S., Vinuesa, Carola G., McCombe, Pamela, Brown, Matthew A., Kile, Benjamin T., McLean, Catriona, Bahlo, Melanie, Masters, Seth L., Nakano, Hiroyasu, Ferguson, Polly J., Murphy, James M., Alexander, Warren S., Silke, John
Publicado 2020