A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice

Por Reiff, Marian, Mueller, Rebecca, Mulchandani, Surabhi, Spinner, Nancy B., Pyeritz, Reed E., Bernhardt, Barbara A.
Publicado em 2013

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Por Reiff, Marian, Bernhardt, Barbara A., Mulchandani, Surabhi, Soucier, Danielle, Cornell, Diana, Pyeritz, Reed E., Spinner, Nancy B.
Publicado em 2012

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Por Reiff, Marian, Giarelli, Ellen, Bernhardt, Barbara A., Easley, Ebony, Spinner, Nancy B., Sankar, Pamela L., Mulchandani, Surabhi
Publicado no J Autism Dev Disord (2015)

Physicians’ Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families

Por Reiff, Marian, Ross, Kathryn, Mulchandani, Surabhi, Propert, Kathleen Joy, Pyeritz, Reed E., Spinner, Nancy B., Bernhardt, Barbara A.
Publicado em 2012

Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies

Por Luo, Minjie, Mulchandani, Surabhi, Dubbs, Holly A., Swarr, Daniel, Pyle, Louise, Zackai, Elaine H., Spinner, Nancy B., Conlin, Laura K.
Publicado no Am J Med Genet A (2015)

Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation

Por Daber, Robert D., Chapman, Kimberly A., Ruchelli, Eduardo, Kasperski, Stefanie, Mulchandani, Surabhi, Thiel, Brian D., Hakonarson, Hakon, Zackai, Elaine H., Conlin, Laura K., Spinner, Nancy B.
Publicado em 2011

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Por Balciuniene, Jorune, DeChene, Elizabeth T., Akgumus, Gozde, Romasko, Edward J., Cao, Kajia, Dubbs, Holly A., Mulchandani, Surabhi, Spinner, Nancy B., Conlin, Laura K., Marsh, Eric D., Goldberg, Ethan, Helbig, Ingo, Sarmady, Mahdi, Abou Tayoun, Ahmad
Publicado no JAMA Netw Open (2019)

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

Por Kalish, Jennifer M., Conlin, Laura K., Mostoufi-Moab, Sogol, Wilkens, Alisha B., Mulchandani, Surabhi, Zelley, Kristin, Kowalski, Megan, Bhatti, Tricia R., Russo, Pierre, Mattei, Peter, Mackenzie, William G., LiVolsi, Virginia, Nichols, Kim E., Biegel, Jaclyn A., Spinner, Nancy B., Deardorff, Matthew A.
Publicado em 2013

Clinical Features of Three Girls With Mosaic Genome-Wide Paternal Uniparental Isodisomy

Por Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, Daniel T., Wilkens, Alisha B., Zackai, Elaine H., Zelley, Kristin, Bartolomei, Marisa S., Nichols, Kim E., Palladino, Andrew A., Spinner, Nancy B., Deardorff, Matthew A.
Publicado em 2013

Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization

Por DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D
Publicado em 2012

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado no Genome Res (2015)