RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Published in Clinical case reports (01.04.2023)
Published in Clinical case reports (01.04.2023)
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Journal Article
Haplotype Structure of the ENPP1 Gene and Nominal Association of the K121Q Missense Single Nucleotide Polymorphism With Glycemic Traits in the Framingham Heart Study
STOLERMAN, Elliot S, MANNING, Alisa K, MCATEER, Jarred B, DUPUIS, Josée, FOX, Caroline S, CUPPLES, L. Adrienne, MEIGS, James B, FLOREZ, Jose C
Published in Diabetes (New York, N.Y.) (01.07.2008)
Published in Diabetes (New York, N.Y.) (01.07.2008)
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Journal Article
CHD8 intragenic deletion associated with autism spectrum disorder
Stolerman, Elliot S, Smith, Brooke, Chaubey, Alka, Jones, Julie R
Published in European journal of medical genetics (01.04.2016)
Published in European journal of medical genetics (01.04.2016)
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Journal Article
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay
Fang, Xiaolan, Fee, Timothy, Davis, Jessica, Stolerman, Elliot S, Caylor, Raymond C
Published in Cold Spring Harbor molecular case studies (01.06.2023)
Published in Cold Spring Harbor molecular case studies (01.06.2023)
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Journal Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Journal Article
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, Janette diMonda, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., Peeters, Hilde
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
Published in Nature communications (07.05.2021)
Published in Nature communications (07.05.2021)
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Journal Article
The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes
Walford, Geoffrey A, Colomo, Natalia, Todd, Jennifer N, Billings, Liana K, Fernandez, Marlene, Chamarthi, Bindu, Warner, A Sofia, Davis, Jaclyn, Littleton, Katherine R, Hernandez, Alicia M, Fanelli, Rebecca R, Lanier, Amelia, Barbato, Corinne, Ackerman, Rachel J, Khan, Sabina Q, Bui, Rosa, Garber, Laurel, Stolerman, Elliot S, Moore, Allan F, Huang, Chunmei, Kaur, Varinderpal, Harden, Maegan, Taylor, Andrew, Chen, Ling, Manning, Alisa K, Huang, Paul, Wexler, Deborah, McCarthy, Rita M, Lo, Janet, Thomas, Melissa K, Grant, Richard W, Goldfine, Allison, Hudson, Margo S, Florez, Jose C
Published in PloS one (26.03.2015)
Published in PloS one (26.03.2015)
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Journal Article
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy
Washington, Camerun, Stolerman, Elliot S, Cooley-Coleman, Jessica A, Jones, Julie R, Chen-Deutsch, Xiangwen
Published in Clinical case reports (01.04.2023)
Published in Clinical case reports (01.04.2023)
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Report
Increased degradation and altered tissue distribution of cartilage oligomeric matrix protein in human rheumatoid and osteoarthritic cartilage
Di Cesare, P E, Carlson, C S, Stolerman, E S, Hauser, N, Tulli, H, Paulsson, M
Published in Journal of orthopaedic research (01.11.1996)
Published in Journal of orthopaedic research (01.11.1996)
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