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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.
Published in:
Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-01056-w
By:
- Hutchins, Elizabeth;
- Reiman, Rebecca;
- Winarta, Joseph;
- Beecroft, Taylor;
- Richholt, Ryan;
- De Both, Matt;
- Shahbander, Khalouk;
- Carlson, Elizabeth;
- Janss, Alex;
- Siniard, Ashley;
- Balak, Chris;
- Bruhns, Ryan;
- Whitsett, Timothy G.;
- McCoy, Roger;
- Anastasi, Matthew;
- Allen, April;
- Churas, Brian;
- Huentelman, Matthew;
- Van Keuren-Jensen, Kendall
Publication type:
Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
By:
- Balak, Chris;
- Belnap, Newell;
- Ramsey, Keri;
- Joss, Shelagh;
- Devriendt, Koen;
- Naymik, Marcus;
- Jepsen, Wayne;
- Siniard, Ashley L.;
- Szelinger, Szabolcs;
- Parker, Mary E.;
- Richholt, Ryan;
- Izatt, Tyler;
- LaFleur, Madison;
- Terraf, Panieh;
- Llaci, Lorida;
- De Both, Matt;
- Piras, Ignazio S.;
- Rangasamy, Sampathkumar;
- Schrauwen, Isabelle;
- Craig, David W.
Publication type:
Article
ASSOCIATION OF MAP2K3 GENE VARIATION AND THE SUPERAGING PHENOTYPE DETECTED BY WHOLE EXOME SEQUENCING.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1290, doi. 10.1016/j.jalz.2017.06.1946
By:
- Huentelman, Matthew J.;
- Piras, Ignazio;
- Siniard, Ashley;
- De Both, Matthew;
- Richholt, Ryan;
- Bigio, Eileen H.;
- Weintraub, Sandra;
- Loyer, Emmaleigh;
- Mesulam, Marsel;
- Geula, Changiz;
- Rogalski, Emily J.
Publication type:
Article
Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects.
Published in:
Scientific Reports, 2017, p. 44061, doi. 10.1038/srep44061
By:
- Yeri, Ashish;
- Courtright, Amanda;
- Reiman, Rebecca;
- Carlson, Elizabeth;
- Beecroft, Taylor;
- Janss, Alex;
- Siniard, Ashley;
- Richholt, Ryan;
- Balak, Chris;
- Rozowsky, Joel;
- Kitchen, Robert;
- Hutchins, Elizabeth;
- Winarta, Joseph;
- McCoy, Roger;
- Anastasi, Matthew;
- Kim, Seungchan;
- Huentelman, Matthew;
- Van Keuren-Jensen, Kendall
Publication type:
Article
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131797
By:
- Schrauwen, Isabelle;
- Szelinger, Szabolcs;
- Siniard, Ashley L.;
- Kurdoglu, Ahmet;
- Corneveaux, Jason J.;
- Malenica, Ivana;
- Richholt, Ryan;
- Van Camp, Guy;
- De Both, Matt;
- Swaminathan, Shanker;
- Turk, Mari;
- Ramsey, Keri;
- Craig, David W.;
- Narayanan, Vinodh;
- Huentelman, Matthew J.
Publication type:
Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
By:
- Llaci, Lorida;
- Ramsey, Keri;
- Belnap, Newell;
- Claasen, Ana M.;
- Balak, Chris D.;
- Szelinger, Szabolcs;
- Jepsen, Wayne M.;
- Siniard, Ashley L.;
- Richholt, Ryan;
- Izat, Tyler;
- Naymik, Marcus;
- De Both, Matt;
- Piras, Ignazio S.;
- Craig, David W.;
- Huentelman, Matthew J.;
- Narayanan, Vinodh;
- Schrauwen, Isabelle;
- Rangasamy, Sampathkumar
Publication type:
Article
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Published in:
Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00155
By:
- Huentelman, Matthew J.;
- Piras, Ignazio S.;
- Siniard, Ashley L.;
- De Both, Matthew D.;
- Richholt, Ryan F.;
- Balak, Chris D.;
- Jamshidi, Pouya;
- Bigio, Eileen H.;
- Weintraub, Sandra;
- Loyer, Emmaleigh T.;
- Mesulam, M.-Marsel;
- Geula, Changiz;
- Rogalski, Emily J.
Publication type:
Article
Age-Modulated Associations between KIBRA, Brain Volume, and Verbal Memory among Healthy Older Adults.
Published in:
Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2017.00431
By:
- Stickel, Ariana;
- Kawa, Kevin;
- Walther, Katrin;
- Glisky, Elizabeth;
- Richholt, Ryan;
- Huentelman, Matt;
- Ryan, Lee
Publication type:
Article
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.
Published in:
Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0487-2
By:
- Gardner, Heather L.;
- Sivaprakasam, Karthigayini;
- Briones, Natalia;
- Zismann, Victoria;
- Perdigones, Nieves;
- Drenner, Kevin;
- Facista, Salvatore;
- Richholt, Ryan;
- Liang, Winnie;
- Aldrich, Jessica;
- Trent, Jeffrey M.;
- Shields, Peter G.;
- Robinson, Nicholas;
- Johnson, Jeremy;
- Lana, Susan;
- Houghton, Peter;
- Fenger, Joelle;
- Lorch, Gwendolen;
- Janeway, Katherine A.;
- London, Cheryl A.
Publication type:
Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Published in:
Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
By:
- 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
Publication type:
Article
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17105-8
By:
- Wie, Jinhong;
- Bharthur, Apoorva;
- Wolfgang, Morgan;
- Narayanan, Vinodh;
- Ramsey, Keri;
- C4RCD Research Group;
- Belnap, Newell;
- Claasen, Ana;
- Courtright, Amanda;
- de Both, Matt;
- Huentelman, Matthew;
- Rangasamy, Sampathkumar;
- Richholt, Ryan;
- Schrauwen, Isabelle;
- Siniard, Ashley L.;
- Szelinger, Szabolics;
- Aranda, Kimberly;
- Zhang, Qi;
- Zhou, Yandong;
- Ren, Dejian
Publication type:
Article

Found: 11