Untangling HDL quantitative trait loci on mouse chromosome 5 and identifying Scarb1 and Acads as the underlying genes

Autor Su, Zhiguang, Leduc, Magalie S., Korstanje, Ron, Paigen, Beverly
Vydáno 2010

A Bayesian Framework for Inference of the Genotype–Phenotype Map for Segregating Populations

Autor Hageman, Rachael S., Leduc, Magalie S., Korstanje, Ron, Paigen, Beverly, Churchill, Gary A.
Vydáno 2011

Uncovering Genes and Regulatory Pathways Related to Urinary Albumin Excretion

Autor Hageman, Rachael S., Leduc, Magalie S., Caputo, Christina R., Tsaih, Shirng-Wern, Churchill, Gary A., Korstanje, Ron
Vydáno 2011

Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA

Autor Leduc, Magalie S., Shimmin, Lawrence C., Klos, Kathy L. E., Hanis, Craig, Boerwinkle, Eric, Hixson, James E.
Vydáno 2008

Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice

Autor Leduc, Magalie S., Hageman, Rachael S., Verdugo, Ricardo A., Tsaih, Shirng-Wern, Walsh, Kenneth, Churchill, Gary A., Paigen, Beverly
Vydáno 2011

A major X-linked locus affects kidney function in mice

Autor Leduc, Magalie S., Savage, Holly S., Stearns, Timothy M., Cario, Clinton L., Walsh, Kenneth A., Paigen, Beverly, Berndt, Annerose
Vydáno 2012

Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ × SM/J intercross

Autor Leduc, Magalie S., Blair, Rachael Hageman, Verdugo, Ricardo A., Tsaih, Shirng-Wern, Walsh, Kenneth, Churchill, Gary A., Paigen, Beverly
Vydáno 2012

Identification of genetic determinants of IGF-1 levels and longevity among mouse inbred strains

Autor Leduc, Magalie S., Hageman, Rachael S., Meng, Qingying, Verdugo, Ricardo A., Tsaih, Shirng-Wern, Churchill, Gary A., Paigen, Beverly, Yuan, Rong
Vydáno 2010

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol

Autor Leduc, Magalie S., Lyons, Malcolm, Darvishi, Katayoon, Walsh, Kenneth, Sheehan, Susan, Amend, Sarah, Cox, Allison, Orho-Melander, Marju, Kathiresan, Sekar, Paigen, Beverly, Korstanje, Ron
Vydáno 2011

Sequence variation at multiple loci influences red cell hemoglobin concentration

Autor Peters, Luanne L., Shavit, Jordan A., Lambert, Amy J., Tsaih, Shirng-Wern, Li, Qian, Su, Zhiguang, Leduc, Magalie S., Paigen, Beverly, Churchill, Gary A., Ginsburg, David, Brugnara, Carlo
Vydáno 2010

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities

Autor Leduc, Magalie S., Niu, Zhiyv, Bi, Weimin, Zhu, Wenmiao, Miloslavskaya, Irene, Chiang, Theodore, Streff, Haley, Seavitt, John R., Murray, Steve, Eng, Christine, Chan, Audrey, Yang, Yaping, Lalani, Seema R.
Vydáno v Am J Med Genet A (2016)

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Autor Yang, Yaping, Muzny, Donna M., Reid, Jeffrey G., Bainbridge, Matthew N., Willis, Alecia, Ward, Patricia A., Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S., Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Eng, Christine M.
Vydáno 2013

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Autor Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E., Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G., Boles, Richard G., Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A., Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Vydáno v PLoS Genet (2016)

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Autor Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, Gibbs, Richard A.
Vydáno v Genet Med (2019)

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Autor Yang, Yaping, Muzny, Donna M., Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J., Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L., Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M.
Vydáno v JAMA (2014)

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

Autor 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
Vydáno v Am J Hum Genet (2015)

Frequency of genomic incidental findings among 21,915 eMERGE network participants

Autor Gordon, Adam S., Zouk, Hana, Venner, Eric, Eng, Christine M., Funke, Birgit H., Amendola, Laura M., Carrell, David S., Chisholm, Rex L., Chung, Wendy K., Denny, Joshua C., Fedotov, Alexander, Hakonarson, Hakon, Kullo, Iftikhar J., Larson, Eric B., Leduc, Magalie S., Leppig, Kathleen A., Lennon, Niall J., Linder, Jodell E., Muzny, Donna M., Prows, Cynthia A., Rasmussen-Torvik, Laura J., Rasouly, Hila Milo, Roden, Dan M., Rosenthal, Elisabeth A., Smith, Maureen E., Stanaway, Ian B., Van Driest, Sara L., Walker, Kimberly, Wiesner, Georgia L., Williams, Marc S., Witkowski, Leora, Crosslin, David R., Gibbs, Richard A., Rehm, Heidi L., Jarvik, Gail P.
Vydáno v Genet Med (2020)

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Autor Carapito, Raphael, Konantz, Martina, Paillard, Catherine, Miao, Zhichao, Pichot, Angélique, Leduc, Magalie S., Yang, Yaping, Bergstrom, Katie L., Mahoney, Donald H., Shardy, Deborah L., Alsaleh, Ghada, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Rolli, Véronique, Müller, Joëlle S., Alghisi, Elisa, Sauteur, Loïc, Macquin, Cécile, Morlon, Aurore, Sancho, Consuelo Sebastia, Amati-Bonneau, Patrizia, Procaccio, Vincent, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Osmani, Naël, Lefebvre, Olivier, Goetz, Jacky G., Unal, Sule, Akarsu, Nurten A., Radosavljevic, Mirjana, Chenard, Marie-Pierre, Rialland, Fanny, Grain, Audrey, Béné, Marie-Christine, Eveillard, Marion, Vincent, Marie, Guy, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien, Myers, Kasiani, Fleming, Mark D., Shimamura, Akiko, Bottollier-Lemallaz, Elodie, Westhof, Eric, Lengerke, Claudia, Isidor, Bertrand, Bahram, Seiamak
Vydáno v J Clin Invest (2017)

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Autor Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Vydáno v Ann Clin Transl Neurol (2018)

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

Autor 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
Vydáno v Am J Hum Genet (2016)