A comprehensive list of human microdeletion and microduplication syndromes

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

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

por Bayanbold, Khaliunaa, Younger, Georgianne, Darbro, Benjamin, Sidhu, Alpa
Publicado 2023

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

Additive and Interactive Genetically Contextual Effects of HbA1c on cg19693031 Methylation in Type 2 Diabetes

por Dawes, Kelsey, Philibert, Willem, Darbro, Benjamin, Simons, Ronald L., Philibert, Robert
Publicado 2022

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

por Panzer, Karin, Ekhaguere, Osayame A., Darbro, Benjamin, Cook, Jennifer, Shchelochkov, Oleg A.
Publicado 2017

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

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

por Beaudry, Sarah M., Shchelochkov, Oleg, Trapane, Pamela, Darbro, Benjamin, Nagy, Jaime M. W.
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

Leukemic Transdifferentiation of Follicular Lymphoma Into an Acute Histiocytic Leukemia in a 52-Year-Old Caucasian Woman

por Steussy, Bryan, Lekostaj, Jacqueline, Qian, Qining, Rosenthal, Nancy, Holman, Carol J., Syrbu, Sergei, Darbro, Benjamin, Bossler, Aaron, Karandikar, Nitin J.
Publicado 2016

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

Genetic Analysis of Multiple Myeloma Identifies Cytogenetic Alterations Implicated in Disease Complexity and Progression

por Li, Can, Wendlandt, Erik B., Darbro, Benjamin, Xu, Hongwei, Thomas, Gregory S., Tricot, Guido, Chen, Fangping, Shaughnessy, John D., Zhan, Fenghuang
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

A comprehensive evaluation of Hippo pathway silencing in sarcomas

por Merritt, Nicole M., Fullenkamp, Colleen A., Hall, Sarah L., Qian, Qining, Desai, Chandni, Thomason, Jon, Lambertz, Allyn M., Dupuy, Adam J., Darbro, Benjamin, Tanas, Munir R.
Publicado 2018

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