Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

por Wang, Robert, Helbig, Ingo, Edmondson, Andrew C, Lin, Lan, Xing, Yi
Publicado 2023

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

por Geiculescu, Irina, Dranove, Jason, Cosper, Graham, Edmondson, Andrew C., Morava‐Kozicz, Eva, Carter, Lauren B.
Publicado 2022

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

por Witters, Peter, Edmondson, Andrew C., Lam, Christina, Johnsen, Christin, Patterson, Marc C., Raymond, Kimiyo M., He, Miao, Freeze, Hudson H., Morava, Eva
Publicado 2021

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation

por Francisco, Rita, Brasil, Sandra, Pascoal, Carlota, Edmondson, Andrew C., Jaeken, Jaak, Videira, Paula A., de Freitas, Cláudia, Ferreira, Vanessa dos Reis, Marques-da-Silva, Dorinda
Publicado 2022

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo...

por Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A., Lam, Christina, Edmondson, Andrew C., Schwartz, Ida Vanessa Doederlein, Morava, Eva
Publicado 2021

Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol

por Khetarpal, Sumeet A., Edmondson, Andrew C., Raghavan, Avanthi, Neeli, Hemanth, Jin, Weijun, Badellino, Karen O., Demissie, Serkalem, Manning, Alisa K., DerOhannessian, Stephanie L., Wolfe, Megan L., Cupples, L. Adrienne, Li, Mingyao, Kathiresan, Sekar, Rader, Daniel J.
Publicado 2011

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation

por Wang, Kai, Edmondson, Andrew C., Li, Mingyao, Gao, Fan, Qasim, Atif N., Devaney, Joseph M., Burnett, Mary Susan, Waterworth, Dawn M., Mooser, Vincent, Grant, Struan F. A., Epstein, Stephen E., Reilly, Muredach P., Hakonarson, Hakon, Rader, Daniel J.
Publicado 2011

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

por Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can
Publicado 2022

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

por Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2015

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

por Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Publicado 2020

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

por Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., Galver, Luana, Barrett, Jeffrey C., Grant, Struan F. A., Farlow, Deborah N., Chandrupatla, Hareesh R., Hansen, Mark, Ajmal, Saad, Papanicolaou, George J., Guo, Yiran, Li, Mingyao, DerOhannessian, Stephanie, de Bakker, Paul I. W., Bailey, Swneke D., Montpetit, Alexandre, Edmondson, Andrew C., Taylor, Kent, Gai, Xiaowu, Wang, Susanna S., Fornage, Myriam, Shaikh, Tamim, Groop, Leif, Boehnke, Michael, Hall, Alistair S., Hattersley, Andrew T., Frackelton, Edward, Patterson, Nick, Chiang, Charleston W. K., Kim, Cecelia E., Fabsitz, Richard R., Ouwehand, Willem, Price, Alkes L., Munroe, Patricia, Caulfield, Mark, Drake, Thomas, Boerwinkle, Eric, Reich, David, Whitehead, A. Stephen, Cappola, Thomas P., Samani, Nilesh J., Lusis, A. Jake, Schadt, Eric, Wilson, James G., Koenig, Wolfgang, McCarthy, Mark I., Kathiresan, Sekar, Gabriel, Stacey B., Hakonarson, Hakon, Anand, Sonia S., Reilly, Muredach, Engert, James C., Nickerson, Deborah A., Rader, Daniel J., Hirschhorn, Joel N., FitzGerald, Garret A.
Publicado 2008

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids

por Teslovich, Tanya M., Musunuru, Kiran, Smith, Albert V., Edmondson, Andrew C., Stylianou, Ioannis M., Koseki, Masahiro, Pirruccello, James P., Ripatti, Samuli, Chasman, Daniel I., Willer, Cristen J., Johansen, Christopher T., Fouchier, Sigrid W., Isaacs, Aaron, Peloso, Gina M., Barbalic, Maja, Ricketts, Sally L., Bis, Joshua C., Aulchenko, Yurii S., Thorleifsson, Gudmar, Feitosa, Mary F., Chambers, John, Orho-Melander, Marju, Melander, Olle, Johnson, Toby, Li, Xiaohui, Guo, Xiuqing, Li, Mingyao, Cho, Yoon Shin, Go, Min Jin, Kim, Young Jin, Lee, Jong-Young, Park, Taesung, Kim, Kyunga, Sim, Xueling, Ong, Rick Twee-Hee, Croteau-Chonka, Damien C., Lange, Leslie A., Smith, Joshua D., Song, Kijoung, Zhao, Jing Hua, Yuan, Xin, Luan, Jian'an, Lamina, Claudia, Ziegler, Andreas, Zhang, Weihua, Zee, Robert Y.L., Wright, Alan F., Witteman, Jacqueline C.M., Wilson, James F., Willemsen, Gonneke, Wichmann, H-Erich, Whitfield, John B., Waterworth, Dawn M., Wareham, Nicholas J., Waeber, Gérard, Vollenweider, Peter, Voight, Benjamin F., Vitart, Veronique, Uitterlinden, Andre G., Uda, Manuela, Tuomilehto, Jaakko, Thompson, John R., Tanaka, Toshiko, Surakka, Ida, Stringham, Heather M., Spector, Tim D., Soranzo, Nicole, Smit, Johannes H., Sinisalo, Juha, Silander, Kaisa, Sijbrands, Eric J.G., Scuteri, Angelo, Scott, James, Schlessinger, David, Sanna, Serena, Salomaa, Veikko, Saharinen, Juha, Sabatti, Chiara, Ruokonen, Aimo, Rudan, Igor, Rose, Lynda M., Roberts, Robert, Rieder, Mark, Psaty, Bruce M., Pramstaller, Peter P., Pichler, Irene, Perola, Markus, Penninx, Brenda W.J.H., Pedersen, Nancy L., Pattaro, Cristian, Parker, Alex N., Pare, Guillaume, Oostra, Ben A., O'Donnell, Christopher J., Nieminen, Markku S., Nickerson, Deborah A., Montgomery, Grant W., Meitinger, Thomas, McPherson, Ruth, McCarthy, Mark I., McArdle, Wendy, Masson, David, Martin, Nicholas G., Marroni, Fabio, Mangino, Massimo, Magnusson, Patrik K.E., Lucas, Gavin, Luben, Robert, Loos, Ruth J. F., Lokki, Maisa, Lettre, Guillaume, Langenberg, Claudia, Launer, Lenore J., Lakatta, Edward G., Laaksonen, Reijo, Kyvik, Kirsten O., Kronenberg, Florian, König, Inke R., Khaw, Kay-Tee, Kaprio, Jaakko, Kaplan, Lee M., Johansson, Åsa, Jarvelin, Marjo-Riitta, Janssens, A. Cecile J.W., Ingelsson, Erik, Igl, Wilmar, Hovingh, G. Kees, Hottenga, Jouke-Jan, Hofman, Albert, Hicks, Andrew A., Hengstenberg, Christian, Heid, Iris M., Hayward, Caroline, Havulinna, Aki S., Hastie, Nicholas D., Harris, Tamara B., Haritunians, Talin, Hall, Alistair S., Gyllensten, Ulf, Guiducci, Candace, Groop, Leif C., Gonzalez, Elena, Gieger, Christian, Freimer, Nelson B., Ferrucci, Luigi, Erdmann, Jeanette, Elliott, Paul, Ejebe, Kenechi G., Döring, Angela, Dominiczak, Anna F., Demissie, Serkalem, Deloukas, Panagiotis, de Geus, Eco J.C., de Faire, Ulf, Crawford, Gabriel, Collins, Francis S., Chen, Yii-der I., Caulfield, Mark J., Campbell, Harry, Burtt, Noel P., Bonnycastle, Lori L., Boomsma, Dorret I., Boekholdt, S. Matthijs, Bergman, Richard N., Barroso, Inês, Bandinelli, Stefania, Ballantyne, Christie M., Assimes, Themistocles L., Quertermous, Thomas, Altshuler, David, Seielstad, Mark, Wong, Tien Y., Tai, E-Shyong, Feranil, Alan B., Kuzawa, Christopher W., Adair, Linda S., Taylor, Herman A., Borecki, Ingrid B., Gabriel, Stacey B., Wilson, James G., Stefansson, Kari, Thorsteinsdottir, Unnur, Gudnason, Vilmundur, Krauss, Ronald M., Mohlke, Karen L., Ordovas, Jose M., Munroe, Patricia B., Kooner, Jaspal S., Tall, Alan R., Hegele, Robert A., Kastelein, John J.P., Schadt, Eric E., Rotter, Jerome I., Boerwinkle, Eric, Strachan, David P., Mooser, Vincent, Holm, Hilma, Reilly, Muredach P., Samani, Nilesh J, Schunkert, Heribert, Cupples, L. Adrienne, Sandhu, Manjinder S., Ridker, Paul M, Rader, Daniel J., van Duijn, Cornelia M., Peltonen, Leena, Abecasis, Gonçalo R., Boehnke, Michael, Kathiresan, Sekar
Publicado 2010