Fruit Flies in Biomedical Research

por Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J.
Publicado no Genetics (2015)

Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits

por Wangler, Michael F., Hu, Yanhui, Shulman, Joshua M.
Publicado no Dis Model Mech (2017)

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

por Bellen, Hugo J, Wangler, Michael F, Yamamoto, Shinya
Publicado no Hum Mol Genet (2019)

Inheritance Pattern of Beckwith–Wiedemann Syndrome Is Heterogeneous in 291 Families with an Affected Proband

por Wangler, Michael F., An, Ping, Feinberg, Andrew P., Province, Michael, DeBaun, Michael R.
Publicado em 2005

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila

por Wangler, Michael F., Reiter, Lawrence T., Zimm, Georgianna, Trimble-Morgan, Jennifer, Wu, Jane, Bier, Ethan
Publicado em 2011

In Vivo Functional Study of Disease-Associated Rare Human Variants using Drosophila

por Harnish, J. Michael, Deal, Samantha L., Chao, Hsiao-Tuan, Wangler, Michael F., Yamamoto, Shinya
Publicado no J Vis Exp (2019)

Digital necrosis in an infant with severe spinal muscular atrophy

por Carrasco, Diana, Magoulas, Pilar, Scull, Jennifer C., Jarrell, Jill A., Lalani, Seema R., Wangler, Michael F.
Publicado no Neurol Genet (2019)

A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease

por Graves, Hillary K., Jangam, Sharayu, Tan, Kai Li, Pignata, Antonella, Seto, Elaine S., Yamamoto, Shinya, Wangler, Michael F.
Publicado no G3 (Bethesda) (2019)

Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome

por Wangler, Michael F., Chavan, Rishikesh, Hicks, M. John, Nuchtern, Jed.G., Hegde, Madhuri, Plon, Sharon E., Thompson, Patrick A.
Publicado em 2013

Dataset for a case report of a homozygous PEX16 F332del mutation

por Bacino, Carlos, Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado no Data Brief (2015)

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

por Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado no Mol Genet Metab Rep (2015)

An SCN1B Variant Affects Both Cardiac-Type (Na(V)1.5) and Brain-Type (Na(V)1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders

por Martinez-Moreno, Rebecca, Selga, Elisabet, Riuró, Helena, Carreras, David, Parnes, Mered, Srinivasan, Chandra, Wangler, Michael F., Pérez, Guillermo J., Scornik, Fabiana S., Brugada, Ramon
Publicado no Front Cell Dev Biol (2020)

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

por Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.
Publicado no Hum Mol Genet (2016)

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

por Liu, Jidong, Ding, Guolian, Zou, Kexin, Jiang, Ziru, Zhang, Junyu, Lu, Yunhua, Pignata, Antonella, Venner, Eric, Liu, Pengfei, Liu, Zhandong, Wangler, Michael F., Sun, Zheng
Publicado no Mol Genet Genomic Med (2020)

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

por Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E., Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M., Campeau, Philippe M., Bellen, Hugo J.
Publicado no Genetics (2017)

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

por Baldridge, Dustin, Wangler, Michael F., Bowman, Angela N., Yamamoto, Shinya, Schedl, Tim, Pak, Stephen C., Postlethwait, John H., Shin, Jimann, Solnica-Krezel, Lilianna, Bellen, Hugo J., Westerfield, Monte
Publicado no Orphanet J Rare Dis (2021)

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

por Ventura, Meredith J., Wheaton, Dianna, Xu, Mingchu, Birch, David, Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Whitney, Annette E., Jones, Richard O., Moser, Ann B., Chen, Rui, Wangler, Michael F.
Publicado no Mol Genet Metab Rep (2016)

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

por Braverman, Nancy E., Raymond, Gerald V., Rizzo, William B., Moser, Ann B., Wilkinson, Mark E., Stone, Edwin M., Steinberg, Steven J., Wangler, Michael F., Rush, Eric T., Hacia, Joseph G., Bose, Mousumi
Publicado no Mol Genet Metab (2015)

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

por Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.
Publicado no Cold Spring Harb Mol Case Stud (2019)

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

por Wang, Julia, Al-Ouran, Rami, Hu, Yanhui, Kim, Seon-Young, Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Comjean, Aram, Mohr, Stephanie E., Perrimon, Norbert, Liu, Zhandong, Bellen, Hugo J.
Publicado no Am J Hum Genet (2017)