Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices

por Jansen, Elena, Naymik, Marcus, Thapaliya, Gita, Huentelman, Matt, Beauchemin, Jennifer, D'Sa, Viren, Lewis, Candace R., Deoni, Sean, Carnell, Susan
Publicado 2023

Maternal choline supplementation ameliorates Alzheimer’s disease pathology by reducing brain homocysteine levels across multiple generations

por Velazquez, Ramon, Ferreira, Eric, Winslow, Wendy, Dave, Nikhil, Piras, Ignazio S., Naymik, Marcus, Huentelman, Matthew J, Tran, An, Caccamo, Antonella, Oddo, Salvatore
Publicado 2019

Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

por Jepsen, Wayne M., De Both, Matthew, Siniard, Ashley L., Ramsey, Keri, Piras, Ignazio S., Naymik, Marcus, Henderson, Adrienne, Huentelman, Matthew J.
Publicado 2021

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

Leukocyte and cytokine variables in asymptomatic Pugs at genetic risk of necrotizing meningoencephalitis

por Windsor, Rebecca, Stewart, Samuel D., Talboom, Joshua, Lewis, Candace, Naymik, Marcus, Piras, Ignazio S., Keller, Stefan, Borjesson, Dori L., Clark, Gary, Khanna, Chand, Huentelman, Matthew
Publicado 2021

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

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

por Ramsey, Keri, Belnap, Newell, Bonfitto, Anna, Jepsen, Wayne, Naymik, Marcus, Sanchez‐Castillo, Meredith, Craig, David W., Szelinger, Szabolcs, Huentelman, Matthew J., Narayanan, Vinodh, Rangasamy, Sampath
Publicado 2022

DNA Methylation and Expression Profiles of Whole Blood in Parkinson’s Disease

por Henderson, Adrienne R., Wang, Qi, Meechoovet, Bessie, Siniard, Ashley L., Naymik, Marcus, De Both, Matthew, Huentelman, Matthew J., Caselli, Richard J., Driver-Dunckley, Erika, Dunckley, Travis
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

Family SES Is Associated with the Gut Microbiome in Infants and Children

por Lewis, Candace R., Bonham, Kevin S., McCann, Shelley Hoeft, Volpe, Alexandra R., D’Sa, Viren, Naymik, Marcus, De Both, Matt D., Huentelman, Matthew J., Lemery-Chalfant, Kathryn, Highlander, Sarah K., Deoni, Sean C. L., Klepac-Ceraj, Vanja
Publicado 2021

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

Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors

por Talboom, Joshua S, Håberg, Asta, De Both, Matthew D, Naymik, Marcus A, Schrauwen, Isabelle, Lewis, Candace R, Bertinelli, Stacy F, Hammersland, Callie, Fritz, Mason A, Myers, Amanda J, Hay, Meredith, Barnes, Carol A, Glisky, Elizabeth, Ryan, Lee, Huentelman, Matthew J
Publicado 2019

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Publicado 2017

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

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

por De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.
Publicado 2021

Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report

por Arboleda-Velasquez, Joseph F., Lopera, Francisco, O’Hare, Michael, Delgado-Tirado, Santiago, Marino, Claudia, Chmielewska, Natalia, Saez-Torres, Kahira L., Amarnani, Dhanesh, Schultz, Aaron P., Sperling, Reisa A., Leyton-Cifuentes, David, Chen, Kewei, Baena, Ana, Aguillon, David, Rios-Romenets, Silvia, Giraldo, Margarita, Guzmán-Vélez, Edmarie, Norton, Daniel J., Pardilla-Delgado, Enmanuelle, Artola, Arabiye, Sanchez, Justin S., Acosta-Uribe, Juliana, Lalli, Matthew, Kosik, Kenneth S., Huentelman, Matthew J., Zetterberg, Henrik, Blennow, Kaj, Reiman, Rebecca A., Luo, Ji, Chen, Yinghua, Thiyyagura, Pradeep, Su, Yi, Jun, Gyungah R., Naymik, Marcus, Gai, Xiaowu, Bootwalla, Moiz, Ji, Jianling, Shen, Lishuang, Miller, John B., Kim, Leo A., Tariot, Pierre N., Johnson, Keith A., Reiman, Eric M., Quiroz, Yakeel T.
Publicado 2019