Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways

por Gerhard, Glenn S., Malenica, Ivana, Llaci, Lorida, Chu, Xin, Petrick, Anthony T., Still, Christopher D., DiStefano, Johanna K.
Publicado 2018

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

por Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
Publicado 2017

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

por Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle
Publicado 2019

Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain

por Sakers, Kristina, Liu, Yating, Llaci, Lorida, Lee, Scott M., Vasek, Michael J., Rieger, Michael A., Brophy, Sean, Tycksen, Eric, Lewis, Renate, Maloney, Susan E., Dougherty, Joseph D.
Publicado 2021

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

por Jepsen, Wayne M., Ramsey, Keri, Szelinger, Szabolcs, Llaci, Lorida, Balak, Chris, Belnap, Newell, Bilagody, Cherae, De Both, Matthew, Gupta, Raj, Naymik, Marcus, Pandey, Richa, Piras, Ignazio S., Sanchez‐Castillo, Meredith, Rangasamy, Sampathkumar, Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2019

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

por Piras, Ignazio S., Bleul, Christiane, Schrauwen, Isabelle, Talboom, Joshua, Llaci, Lorida, De Both, Matthew D., Naymik, Marcus A., Halliday, Glenda, Bettencourt, Conceicao, Holton, Janice L., Serrano, Geidy E., Sue, Lucia I., Beach, Thomas G., Stefanova, Nadia, Huentelman, Matthew J.
Publicado 2020

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

por Frankel, Eric, Podder, Avijit, Sharifi, Megan, Pillai, Roshan, Belnap, Newell, Ramsey, Keri, Dodson, Julius, Venugopal, Pooja, Brzezinski, Molly, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Sanchez-Castillo, Meredith, Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Naymik, Marcus, Schrauwen, Isabelle, Craig, David W., Piras, Ignazio S., Huentelman, Matthew J., Schork, Nicholas J., Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2023

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

por Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Publicado 2021