Cytogenomic Aberrations in Congenital Cardiovascular Malformations

Por Azamian, Mahshid, Lalani, Seema R.
Publicado no Mol Syndromol (2016)

A novel CACNA1A variant in a child with early stroke and intractable epilepsy

Por Gudenkauf, Franciska J., Azamian, Mahshid S., Hunter, Jill V., Nayak, Anuranjita, Lalani, Seema R.
Publicado no Mol Genet Genomic Med (2020)

Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study(1)(2)(3)(4)

Por Marini, Juan C, Agarwal, Umang, Didelija, Inka C, Azamian, Mahshid, Stoll, Barbara, Nagamani, Sandesh CS
Publicado no J Nutr (2017)

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Por Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A.
Publicado no PLoS One (2017)

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Por Nagamani, Sandesh C.S., Agarwal, Umang, Tam, Allison, Azamian, Mahshid, McMeans, Ann, Didelija, Inka C., Mohammad, Mahmoud A., Marini, Juan C.
Publicado no Genet Med (2017)

Copy Number Variants of Undetermined Significance are not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

Por Dailey-Schwartz, Andrew L., Tadros, Hanna J., Azamian, Mahshid Sababi, Lalani, Seema R., Morris, Shaine A, Allen, Hugh D., Kim, Jeffrey J., Landstrom, Andrew P.
Publicado no J Pediatr (2018)

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Por Saida, Ken, Fukuda, Tokiko, Scott, Daryl A., Sengoku, Toru, Ogata, Kazuhiro, Nicosia, Annarita, Hernandez-Garcia, Andres, Lalani, Seema R., Azamian, Mahshid S., Streff, Haley, Liu, Pengfei, Dai, Hongzheng, Mizuguchi, Takeshi, Miyatake, Satoko, Asahina, Miki, Ogata, Tsutomu, Miyake, Noriko, Matsumoto, Naomichi
Publicado no Front Cell Dev Biol (2021)

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Por Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmont, John W., Muzny, Donna, Lupski, James R., Gibbs, Richard A., Lewis, Richard Alan, Lee, Brendan H., Lalani, Seema R., Campeau, Philippe M.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees

Por Truong, Brittany T., Yarza, Talitha Karisse L., Roberts, Tori Bootpetch, Roberts, Susannah, Xu, Jonathan, Steritz, Matthew J., Tobias-Grasso, Celina Ann M., Azamian, Mahshid, Lalani, Seema R., Mohlke, Karen L., Lee, Nanette R., Cutiongco-de la Paz, Eva Maria, Reyes-Quintos, Maria Rina T., Santos-Cortez, Regie Lyn P., Chiong, Charlotte M.
Publicado no Clin Genet (2019)

Assessment of Large Copy Number Variants in Patients with Apparently Isolated Congenital Left-sided Cardiac Lesions Reveals Clinically Relevant Genomic Events

Por Hanchard, Neil A., Umana, Luis A, D’Alessandro, Lisa, Azamian, Mahshid, Poopola, Mojisola, Morris, Shaine A., Fernbach, Susan, Lalani, Seema R., Towbin, Jeffrey A., Zender, Gloria A., Fitzgerald-Butt, Sara, Garg, Vidu, Bowman, Jessica, Zapata, Gladys, Hernandez, Patricia, Arrington, Cammon B., Furthner, Dieter, Prakash, Siddharth K., Bowles, Neil E., McBride, Kim L., Belmont, John W.
Publicado no Am J Med Genet A (2017)

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Por Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghani, Asha, Chandarana, Jignesh, Ding, Yan, Holtzman, Judy, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Hanchard, Neil A., Harel, Tamar, Rosenfeld, Jill A., Belmont, John W., Lupski, James R., Yang, Yaping
Publicado no Am J Hum Genet (2016)

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Por Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Publicado no Genome Med (2017)

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Por Coban-Akdemir, Zeynep H., Charng, Wu-Lin, Azamian, Mahshid, Paine, Ingrid Sophie, Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago, Cannon, Bryan, Zapata, Gladys, Hernandez, Patricia P., Jhangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Boricha, Fatima, Muzny, Donna M., Boerwinkle, Eric, Yang, Yaping, Gibbs, Richard A., Posey, Jennifer E., Wehrens, Xander H.T., Belmont, John W., Kim, Jeffrey J., Miyake, Christina Y., Lupski, James R., Lalani, Seema R.
Publicado no Am J Med Genet A (2020)

Genetic architecture of laterality defects revealed by whole exome sequencing

Por Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
Publicado no Eur J Hum Genet (2019)

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Por Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping
Publicado no Am J Hum Genet (2015)

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Por Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane
Publicado no Am J Hum Genet (2020)

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Por Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan
Publicado no Am J Hum Genet (2014)

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Por Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping
Publicado no Am J Hum Genet (2016)

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Por Hanchard, Neil A., Swaminathan, Shanker, Bucasas, Kristine, Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid S., Wang, Xueqing, Lewin, Mark, Towbin, Jeffrey A., D'Alessandro, Lisa C.A., Morris, Shaine A., Dreyer, William, Denfield, Susan, Ayres, Nancy A., Franklin, Wayne J., Justino, Henri, Lantin-Hermoso, M. Regina, Ocampo, Elena C., Santos, Alexia B., Parekh, Dhaval, Moodie, Douglas, Jeewa, Aamir, Lawrence, Emily, Allen, Hugh D., Penny, Daniel J., Fraser, Charles D., Lupski, James R., Popoola, Mojisola, Wadhwa, Lalita, Brook, J. David, Bu'Lock, Frances A., Bhattacharya, Shoumo, Lalani, Seema R., Zender, Gloria A., Fitzgerald-Butt, Sara M., Bowman, Jessica, Corsmeier, Don, White, Peter, Lecerf, Kelsey, Zapata, Gladys, Hernandez, Patricia, Goodship, Judith A., Garg, Vidu, Keavney, Bernard D., Leal, Suzanne M., Cordell, Heather J., Belmont, John W., McBride, Kim L.
Publicado no Hum Mol Genet (2016)

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Por Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V., Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J., Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S., Robak, Laurie, Bostwick, Bret L., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A., Hanchard, Neil A., Wangler, Michael F., Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W., Burrage, Lindsay C., Graham, Brett H., Sutton, Vernon Reid, Craigen, William J., Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna M., Miller, Marcus J., Wang, Xia, Leduc, Magalie S., Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine, Yang, Yaping, Lalani, Seema R.
Publicado no JAMA Pediatr (2017)