The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Schanen, N. Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T.
Published in Autism research (01.08.2013)
Published in Autism research (01.08.2013)
Get full text
Journal Article
Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns
Dunaway, Keith, Goorha, Sarita, Matelski, Lauren, Urraca, Nora, Lein, Pamela J., Korf, Ian, Reiter, Lawrence T., LaSalle, Janine M.
Published in Stem cells (Dayton, Ohio) (01.04.2017)
Published in Stem cells (Dayton, Ohio) (01.04.2017)
Get full text
Journal Article
Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT‐Immortalized Cultured Dental Pulp Stem Cells
Wilson, Ryan, Urraca, Nora, Skobowiat, Cezary, Hope, Kevin A., Miravalle, Leticia, Chamberlin, Reed, Donaldson, Martin, Seagroves, Tiffany N., Reiter, Lawrence T.
Published in Stem cells translational medicine (01.08.2015)
Published in Stem cells translational medicine (01.08.2015)
Get full text
Journal Article
Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders
Urraca, Nora, Memon, Rawaha, El-Iyachi, Ikbale, Goorha, Sarita, Valdez, Colleen, Tran, Quynh T., Scroggs, Reese, Miranda-Carboni, Gustavo A., Donaldson, Martin, Bridges, Dave, Reiter, Lawrence T.
Published in Stem cell research (01.11.2015)
Published in Stem cell research (01.11.2015)
Get full text
Journal Article
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons
Urraca, Nora, Hope, Kevin, Victor, A Kaitlyn, Belgard, T Grant, Memon, Rawaha, Goorha, Sarita, Valdez, Colleen, Tran, Quynh T, Sanchez, Silvia, Ramirez, Juanma, Donaldson, Martin, Bridges, Dave, Reiter, Lawrence T
Published in Molecular autism (27.01.2018)
Published in Molecular autism (27.01.2018)
Get full text
Journal Article
A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism
Urraca, Nora, Potter, Brian, Hundley, Rachel, Pivnick, Eniko K, McVicar, Kathryn, Thibert, Ronald L, Ledbetter, Christopher, Chamberlain, Reed, Miravalle, Leticia, Sirois, Carissa L, Chamberlain, Stormy, Reiter, Lawrence T
Published in Frontiers in genetics (25.11.2016)
Published in Frontiers in genetics (25.11.2016)
Get full text
Journal Article
eP190 - De novo IGF2 mutation in a patient with Russel-Silver syndrome and ectrodactyly
Fonville, Megan Parker, Urraca, Nora, Pivnick, Eniko
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
De novo IGF2 mutation in a patient with Russel-Silver syndrome and ectrodactyly
Fonville, Megan Parker, Urraca, Nora, Pivnick, Eniko
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Krantz, Ian D, Medne, Livija, Weatherly, Jamila M, Wild, K Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P, Abdul-Rahman, Omar, Euteneuer, Joshua C, Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J, Vargas-Shiraishi, Ofelia M, Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions, Wegner, Daniel J, Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J, Pivnick, Eniko K, Ward, Jewell C, Talati, Ajay, Brown, Chester W, Belmont, John W, Ortega, Julia L, Robinson, Keisha D, Brocklehurst, W Tyler, Perry, Denise L, Ajay, Subramanian S, Hagelstrom, R Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J
Published in JAMA pediatrics (01.12.2021)
Published in JAMA pediatrics (01.12.2021)
Get more information
Journal Article
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., Kesari, Akanchha
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
Get full text
Journal Article
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
Get full text
Journal Article
Identification of novel candidate disease genes from de novo exonic copy number variants
Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Pursley, Amber N, Nagamani, Sandesh C S, Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G, Matalon, Reuben, Emrick, Lisa, Proud, Monica B, Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R, Nugent, Kimberly M, Bader, Patricia I, Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P, Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L, Lalani, Seema R, Bacino, Carlos A, Beaudet, Arthur L, Breman, Amy M, Smith, Janice L, Cheung, Sau Wai, Lupski, James R, Patel, Ankita, Shaw, Chad A, Stankiewicz, Paweł
Published in Genome medicine (21.09.2017)
Published in Genome medicine (21.09.2017)
Get full text
Journal Article
O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients
Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
Get full text
Journal Article
Association study of DRD3 gene in schizophrenia in Mexican sib-pairs
Urraca, Nora, Camarena, Beatriz, Aguilar, Alejandro, Fresán, Ana, Apiquián, Rogelio, Orozco, Lorena, Carnevale, Alessandra, Nicolini, Humberto
Published in Psychiatry research (30.12.2011)
Published in Psychiatry research (30.12.2011)
Get full text
Journal Article
Association Study of MAO-A and DRD4 Genes in Schizophrenic Patients with Aggressive Behavior
Fresan, Ana, Camarena, Beatriz, Apiquian, Rogelio, Aguilar, Alejandro, Urraca, Nora, Nicolini, Humberto
Published in Neuropsychobiology (01.01.2007)
Published in Neuropsychobiology (01.01.2007)
Get full text
Journal Article
Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses
Ajayi, Oluwaseun Jessica, Smith, Ebony Jeannae, Viangteeravat, Teeradache, Huang, Eunice Y, Nagisetty, Naga Satya V Rao, Urraca, Nora, Lusk, Laina, Finucane, Brenda, Arkilo, Dimitrios, Young, Jennifer, Jeste, Shafali, Thibert, Ronald, Reiter, Lawrence T
Published in JMIR research protocols (18.10.2017)
Published in JMIR research protocols (18.10.2017)
Get full text
Journal Article