Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue

por Mussa, Alessandro, Kalish, Jennifer M.
Publicado 2023

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

por Griff, Jessica R., Duffy, Kelly A., Kalish, Jennifer M.
Publicado 2020

Diagnosis and Management of Beckwith-Wiedemann Syndrome

por Wang, Kathleen H., Kupa, Jonida, Duffy, Kelly A., Kalish, Jennifer M.
Publicado 2020

Triplex-induced recombination and repair in the pyrimidine motif

por Kalish, Jennifer M., Seidman, Michael M., Weeks, Daniel L., Glazer, Peter M.
Publicado 2005

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome

por Sobel Naveh, Natali S., Traxler, Emily M., Duffy, Kelly A., Kalish, Jennifer M.
Publicado 2022

An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

por Sharma, Sheena, Kalish, Jennifer M., Goldberg, Ethan M., Reynoso, Francis Jeshira, Pradhan, Madhura
Publicado 2016

Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2

por Duffy, Kelly A., Hathaway, Evan R., Klein, Steven D., Ganguly, Arupa, Kalish, Jennifer M.
Publicado 2021

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant

por Ginart, Paul, Kalish, Jennifer M., Jiang, Connie L., Yu, Alice C., Bartolomei, Marisa S., Raj, Arjun
Publicado 2016

Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)

por Klein, Steven D., DeMarchis, Madison, Linn, Rebecca L., MacFarland, Suzanne P., Kalish, Jennifer M.
Publicado 2023

Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting

por Symmons, Orsolya, Chang, Marcello, Mellis, Ian A., Kalish, Jennifer M., Park, Jihwan, Suszták, Katalin, Bartolomei, Marisa S., Raj, Arjun
Publicado 2019

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

por Duffy, Kelly A., Trout, Kelly L., Gunckle, Jennifer M., Krantz, Shari McCullen, Morris, John, Kalish, Jennifer M.
Publicado 2021

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population...

por Duffy, Kelly A., Getz, Kelly D., Hathaway, Evan R., Byrne, Mallory E., MacFarland, Suzanne P., Kalish, Jennifer M.
Publicado 2021

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome

por Naveh, Natali S Sobel, Deegan, Daniel F, Huhn, Jacklyn, Traxler, Emily, Lan, Yemin, Weksberg, Rosanna, Ganguly, Arupa, Engel, Nora, Kalish, Jennifer M
Publicado 2021

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

por Li, Yahan, Hagen, Darren Erich, Ji, Tieming, Bakhtiarizadeh, Mohammad Reza, Frederic, Whitney M., Traxler, Emily M., Kalish, Jennifer M., Rivera, Rocío Melissa
Publicado 2019

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome

por Mussa, Alessandro, Ciuffreda, Valentina Pia, Sauro, Pina, Pagliardini, Veronica, Pagliardini, Severo, Carli, Diana, Kalish, Jennifer M., Fagioli, Franca, Pavanello, Enza, Ferrero, Giovanni Battista
Publicado 2019

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

por Strong, Alanna, Simone, Laurie, Krentz, Anthony, Vaccaro, Courtney, Watson, Deborah, Ron, Hayley, Kalish, Jennifer M., Pedro, Helio F., Zackai, Elaine H., Hakonarson, Hakon
Publicado 2021

Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

por Lalonde, Emilie, Ebrahimzadeh, Jessica, Rafferty, Keith, Richards‐Yutz, Jennifer, Grant, Richard, Toorens, Erik, Marie Rosado, Jennifer, Schindewolf, Erica, Ganguly, Tapan, Kalish, Jennifer M., Deardorff, Matthew A., Ganguly, Arupa
Publicado 2019

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

por Rosenfeld, Elizabeth, Mitteer, Lauren, Boodhansingh, Kara, Becker, Susan A., McKnight, Heather, Boyajian, Linda, Ackermann, Amanda M., Kalish, Jennifer M., Bhatti, Tricia R., States, Lisa J., Adzick, N. Scott, Lord, Katherine, De León, Diva D.
Publicado 2021

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

por Tung, Joanna Yuet-ling, Lai, Sophie Hon Yu, Au, Sandy Leung Kuen, Yeung, Kit San, Kan, Anita Sik Yau, Loong, Florence, DeLeón, Diva D., Kalish, Jennifer M., Ganguly, Arupa, Chung, Brian Hon Yin, Chan, Kelvin Yuen Kwong
Publicado 2020

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

por Fiala, Elise M., Ortiz, Michael V., Kennedy, Jennifer A., Glodzik, Dominik, Fleischut, Megan Harlan, Duffy, Kelly A., Hathaway, Evan R., Heaton, Todd, Gerstle, Justin T., Steinherz, Peter, Shukla, Neerav, McNeer, Nicole, Tkachuk, Kaitlyn, Bouvier, Nancy, Cadoo, Karen, Carlo, Maria I., Latham, Alicia, Dubard Gault, Marianne, Joseph, Vijai, Kemel, Yelena, Kentsis, Alex, Stadler, Zsofia, La Quaglia, Michael, Papaemmanuil, Elli, Friedman, Danielle, Ganguly, Arupa, Kung, Andrew, Offit, Kenneth, Kalish, Jennifer M., Walsh, Michael F.
Publicado 2020