Alternative Splicing of sept9a and sept9b in Zebrafish Produces Multiple mRNA Transcripts Expressed Throughout Development

por Landsverk, Megan L., Weiser, Douglas C., Hannibal, Mark C., Kimelman, David
Publicado 2010

Absolute neutrophil count nadir in healthy pediatric patients with the Duffy-null phenotype

por Merz, Lauren E., Li, Shih-Hon, Ney, Gina, Michniacki, Thomas F., Hannibal, Mark C., Walkovich, Kelly J.
Publicado 2023

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

por Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W.
Publicado 2022

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

por Tsuchiya, Karen D, Opheim, Kent E, Hannibal, Mark C, Hing, Anne V, Glass, Ian A, Raff, Michael L, Norwood, Thomas, Torchia, Beth A
Publicado 2008

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

por Novice, Taylor, Kariminia, Amina, Del Bel, Kate L., Lu, Henry, Sharma, Mehul, Lim, Chinten J., Read, Jay, Lugt, Mark Vander, Hannibal, Mark C., O’Dwyer, David, Hosler, Mirie, Scharnitz, Thomas, Rizzo, Jason M, Zacur, Jennifer, Priatel, John, Abdossamadi, Sayeh, Bohm, Alexandra, Junker, Anne, Turvey, Stuart E., Schultz, Kirk R., Rozmus, Jacob
Publicado 2019

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

por Ziats, Mark N., Ahmad, Ayesha, Bernat, John A., Fisher, Rachel, Glassford, Megan, Hannibal, Mark C., Jacher, Joseph E., Weiser, Natasha, Keegan, Catherine E., Lee, Kristen N., Marzulla, Tessa B., O’Connor, Bridget C., Quinonez, Shane C., Seemann, Lauren, Turner, Lauren, Bielas, Stephanie, Harris, Nicholas L., Ogle, Jacob D., Innis, Jeffrey W., Martin, Donna M.
Publicado 2019

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

por Ng, Sarah B., Bigham, Abigail W., Buckingham, Kati J., Hannibal, Mark C., McMillin, Margaret, Gildersleeve, Heidi, Beck, Anita E., Tabor, Holly K., Cooper, Greg M., Mefford, Heather C., Lee, Choli, Turner, Emily H., Smith, Josh D., Rieder, Mark J., Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Publicado 2010

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

por Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E
Publicado 2011