Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von 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

Volltext

Frequency of genomic secondary findings among 21,915 eMERGE network participants von 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

Volltext

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv

Volltext

Clinical and molecular characterization of de novo loss of function variants in HNRNPU von Leduc, Magalie S., Chao, Hsiao‐Tuan, Qu, Chunjing, Walkiewicz, Magdalena, Xiao, Rui, Magoulas, Pilar, Pan, Shujuan, Beuten, Joke, He, Weimin, Bernstein, Jonathan A., Schaaf, Christian P., Scaglia, Fernando, Eng, Christine M., Yang, Yaping

Volltext

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities von Leduc, Magalie S., Mcguire, Marianne, Madan-Khetarpal, Suneeta, Ortiz, Damara, Hayflick, Susan, Keller, Kory, Eng, Christine M., Yang, Yaping, Bi, Weimin

Volltext

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity von Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

Volltext

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

Volltext

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual... von Stevens, Servi J.C., der Schoot, Vyne, Leduc, Magalie S., Rinne, Tuula, Lalani, Seema R., Weiss, Marjan M., Hagen, Johanna M., Lachmeijer, Augusta M.A., Stockler‐Ipsiroglu, Sylvia G., Lehman, Anna, Brunner, Han G

Volltext

A Bayesian framework for inference of the genotype-phenotype map for segregating populations von Hageman, Rachael S, Leduc, Magalie S, Korstanje, Ron, Paigen, Beverly, Churchill, Gary A

Volltext

Untangling HDL quantitative trait loci on mouse chromosome 5 and identifying Scarb1 and Acads as the underlying genes von Su, Zhiguang, Leduc, Magalie S., Korstanje, Ron, Paigen, Beverly

Volltext

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol[S] von Leduc, Magalie S., Lyons, Malcolm, Darvishi, Katayoon, Walsh, Kenneth, Sheehan, Susan, Amend, Sarah, Cox, Allison, Orho-Melander, Marju, Kathiresan, Sekar, Paigen, Beverly, Korstanje, Ron

Volltext

Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice von Leduc, Magalie S., Hageman, Rachael S., Verdugo, Ricardo A., Tsaih, Shirng-Wern, Walsh, Kenneth, Churchill, Gary A., Paigen, Beverly

Volltext

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities von Leduc, Magalie S., Niu, Zhiyv, Bi, Weimin, Zhu, Wenmiao, Miloslavskaya, Irene, Chiang, Theodore, Streff, Haley, Seavitt, John R., Murray, Stephen A., Eng, Christine, Chan, Audrey, Yang, Yaping, Lalani, Seema R.

Volltext

Identification of genetic determinants of IGF‐1 levels and longevity among mouse inbred strains von Leduc, Magalie S., Hageman, Rachael S., Meng, Qingying, Verdugo, Ricardo A., Tsaih, Shirng‐Wern, Churchill, Gary A., Paigen, Beverly, Yuan, Rong

Volltext

Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ x SM/J intercross von Leduc, Magalie S, Blair, Rachael Hageman, Verdugo, Ricardo A, Tsaih, Shirng-Wern, Walsh, Kenneth, Churchill, Gary A, Paigen, Beverly

Volltext

Sequence variation at multiple loci influences red cell hemoglobin concentration von 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

Volltext

Actinomycetoma with systemic features: A warning sign for immunosuppression? von Cortez de Almeida, Rita Fernanda, Correia, Roberta Espírito Santo, Varón, Andréa Gina, de Oliveira Coelho, Janice Mery Chicarino, de Oliveira, Ana Paola, Lourenço, Maria Cristina Silva, Ribeiro da Silva, Erica Aparecida Dos Santos, Conceição, Emilyn Costa, Lamas, Cristiane da Cruz, Freitas, Dayvison Francis Saraiva

Volltext

Uncovering Genes and Regulatory Pathways Related to Urinary Albumin Excretion von HAGEMAN, Rachael S, LEDUC, Magalie S, CAPUTO, Christina R, TSAIH, Shirng-Wern, CHURCHILL, Gary A, KORSTANJE, Ron

Volltext

Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ × SM/J intercross[S] von Leduc, Magalie S., Blair, Rachael Hageman, Verdugo, Ricardo A., Tsaih, Shirng-Wern, Walsh, Kenneth, Churchill, Gary A., Paigen, Beverly

Volltext

Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA von Leduc, Magalie S, Shimmin, Lawrence C, Klos, Kathy L.E, Hanis, Craig, Boerwinkle, Eric, Hixson, James E

Volltext