COVID‐19 and the adaptive evolution of genetic counseling

por Hassel, Nathan C., Gilbert, Adel D., Bejjani, Bassem A.
Publicado 2022

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

por Lalani, Seema R, Sahoo, Trilochan, Sanders, Merideth E, Peters, Sarika U, Bejjani, Bassem A
Publicado 2006

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

por Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C
Publicado 2010

Human anterior chamber angle development without cell death or macrophage involvement

por Meghpara, Beeran, Li, Xin, Nakamura, Hiroshi, Khan, Ahsan, Bejjani, Bassem A., Lin, Shan, Edward, Deepak P.
Publicado 2008

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmenta...

por Haj, Roland, Jackson, Kelly, Torchia, Beth A, Shaffer, Lisa G, Bejjani, Bassem A, Gowans, Gordon C, Ruff, Michael E
Publicado 2009

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

por Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Publicado 2009

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

por Karolak, Justyna A., Kulinska, Karolina, Nowak, Dorota M., Pitarque, Jose A., Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A., Gajecka, Marzena
Publicado 2011

Identification of novel suggestive loci for high-grade myopia in Polish families

por Rydzanicz, Malgorzata, Nath, Swapan K., Sun, Celi, Podfigurna-Musielak, Monika, Frajdenberg, Agata, Mrugacz, Malgorzata, Winters, Daniel, Ratnamala, Uppala, Radhakrishna, Uppala, Bejjani, Bassem A., Gajecka, Marzena
Publicado 2011

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

por Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Publicado 2008

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

por Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Publicado 2009