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

av Landsverk, Megan L., Weiser, Douglas C., Hannibal, Mark C., Kimelman, David
Publicerad 2010

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

av Hing Anne V, Hannibal Mark C, Opheim Kent E, Tsuchiya Karen D, Glass Ian A, Raff Michael L, Norwood Thomas, Torchia Beth A
Publicerad 2008-04-01

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

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

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

av Srivastava, Anshika, Ritesh, K.C., Tsan, Yao-Chang, Liao, Rosy, Su, Fengyun, Cao, Xuhong, Hannibal, Mark C., Keegan, Catherine E., Chinnaiyan, Arul M., Martin, Donna M., Bielas, Stephanie L.
I publikationen Hum Mol Genet (2016)

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

av Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publicerad 2003

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

av Inamoto, Sakiko, Kwartler, Callie S., Lafont, Andrea L., Liang, Yao Yun, Fadulu, Van Tran, Duraisamy, Senthil, Willing, Marcia, Estrera, Anthony, Safi, Hazim, Hannibal, Mark C., Carey, John, Wiktorowicz, John, Tan, Filemon K., Feng, Xin-Hua, Pannu, Hariyadarshi, Milewicz, Dianna M.
Publicerad 2010

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

av 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
I publikationen J Clin Immunol (2019)

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

av Landsverk, Megan L., Ruzzo, Elizabeth K., Mefford, Heather C., Buysse, Karen, Buchan, Jillian G., Eichler, Evan E., Petty, Elizabeth M., Peterson, Esther A., Knutzen, Dana M., Barnett, Karen, Farlow, Martin R., Caress, Judy, Parry, Gareth J., Quan, Dianna, Gardner, Kathy L., Hong, Ming, Simmons, Zachary, Bird, Thomas D., Chance, Phillip F., Hannibal, Mark C.
Publicerad 2009

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

av 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.
I publikationen Pediatr Res (2019)

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

av 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
Publicerad 2010

Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

av Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester, Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
I publikationen Hum Mutat (2013)

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

av 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
Publicerad 2011

Spectrum of K(V)2.1 Dysfunction in KCNB1-associated Neurodevelopmental Disorders

av Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O’Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, van der Smagt, Jasper, van Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.
I publikationen Ann Neurol (2019)

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

av Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Wei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.
Publicerad 2011

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

av Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.
Publicerad 2005