Genetics and genomic medicine in Ecuador

Por Paz‐y‐Miño, César, Guillen Sacoto, María J., Leone, Paola E.
Publicado no Mol Genet Genomic Med (2015)

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Por Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Publicado no Mol Genet Metab Rep (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Por Guillen Sacoto, Maria J., Martinez, Ariel F., Abe, Yu, Kruszka, Paul, Weiss, Karin, Everson, Joshua L., Bataller, Ramon, Kleiner, David E., Ward, Jerrold M., Sulik, Kathleen K., Lipinski, Robert J., Solomon, Benjamin D., Muenke, Maximilian
Publicado no J Hepatol (2017)

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Por Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon
Publicado no Am J Hum Genet (2016)

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Por Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.
Publicado no Clin Genet (2017)