Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

por Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.
Publicado 2013

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

por Lalonde, Emilie, Rentas, Stefan, Lin, Fumin, Dulik, Matthew C., Skraban, Cara M., Spinner, Nancy B.
Publicado 2020

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

por Schindler, Emma A., Gilbert, Melissa A., Piccoli, David A., Spinner, Nancy B., Krantz, Ian D., Loomes, Kathleen M.
Publicado 2020

Exome Sequencing in Individuals with Isolated Biliary Atresia

por Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Publicado 2020

Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

por Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.
Publicado 2014

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

por Jurkiewicz, Dorota, Gliwicz, Dorota, Ciara, Elżbieta, Gerfen, Jennifer, Pelc, Magdalena, Piekutowska-Abramczuk, Dorota, Kugaudo, Monika, Chrzanowska, Krystyna, Spinner, Nancy B., Krajewska-Walasek, Małgorzata
Publicado 2014

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

por Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Publicado 2013

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

por Masino, Aaron J, Dechene, Elizabeth T, Dulik, Matthew C, Wilkens, Alisha, Spinner, Nancy B, Krantz, Ian D, Pennington, Jeffrey W, Robinson, Peter N, White, Peter S
Publicado 2014

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

por Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.
Publicado 2020

Mechanisms of ring chromosome formation, ring instability and clinical consequences

por Guilherme, Roberta S, Ayres Meloni, Vera F, Kim, Chong A, Pellegrino, Renata, Takeno, Sylvia S, Spinner, Nancy B, Conlin, Laura K, Christofolini, Denise M, Kulikowski, Leslie D, Melaragno, Maria I
Publicado 2011

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2009

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

por Chen, Ying, Gilbert, Melissa A., Grochowski, Christopher M., McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E., Russo, Pierre, Wells, Rebecca G., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Publicado 2018

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 2019

A Six-attribute Classification of Genetic Mosaicism

por Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Pérez, Víctor L. Ruiz, Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo
Publicado 2020

Genome-wide DNA methylation analysis in cohesin mutant human cell lines

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2010

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

por Tsai, Ellen A., Gilbert, Melissa A., Grochowski, Christopher M., Underkoffler, Lara A., Meng, He, Zhang, Xiaojie, Wang, Michael M., Shitaye, Hailu, Hankenson, Kurt D., Piccoli, David, Lin, Henry, Kamath, Binita M., Devoto, Marcella, Spinner, Nancy B., Loomes, Kathleen M.
Publicado 2016

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

por Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Publicado 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

por Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Publicado 2015

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

por Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.
Publicado 2018

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

por Kamath, Binita M., Ye, Wen, Goodrich, Nathan P., Loomes, Kathleen M., Romero, Rene, Heubi, James E., Leung, Daniel H., Spinner, Nancy B., Piccoli, David A., Alonso, Estella M., Guthery, Stephen L., Karpen, Saul J., Mack, Cara L., Molleston, Jean P., Murray, Karen F., Rosenthal, Philip, Squires, James E., Teckman, Jeffrey, Wang, Kasper S., Thompson, Richard, Magee, John C., Sokol, Ronald J.
Publicado 2020