De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
Butler, Kameryn M, Moody, Olivia A, Schuler, Elisabeth, Coryell, Jason, Alexander, John J, Jenkins, Andrew, Escayg, Andrew
Published in Brain (London, England : 1878) (01.08.2018)
Published in Brain (London, England : 1878) (01.08.2018)
Get full text
Journal Article
Pediatric Patient-Reported Outcome Instruments for Research to Support Medical Product Labeling: Report of the ISPOR PRO Good Research Practices for the Assessment of Children and Adolescents Task Force
Matza, Louis S., PhD, Patrick, Donald L., PhD, MSPH, Riley, Anne W., PhD, MS, Alexander, John J., MD, MPH, Rajmil, Luis, MD, PhD, MPH, Pleil, Andreas M., PhD, Bullinger, Monika, PhD
Published in Value in health (01.06.2013)
Published in Value in health (01.06.2013)
Get full text
Journal Article
Use of a Comprehensive 66‐Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults
Karpen, Saul J., Kamath, Binita M., Alexander, John J., Ichetovkin, Ilia, Rosenthal, Philip, Sokol, Ronald J., Dunn, Shelley, Thompson, Richard J., Heubi, James E.
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Get full text
Journal Article
Highly Efficient Delivery of Adeno-Associated Viral Vectors to the Primate Retina
Boye, Shannon E, Alexander, John J, Witherspoon, C Douglas, Boye, Sanford L, Peterson, James J, Clark, Mark E, Sandefer, Kristen J, Girkin, Chris A, Hauswirth, William W, Gamlin, Paul D
Published in Human gene therapy (01.08.2016)
Published in Human gene therapy (01.08.2016)
Get more information
Journal Article
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri
Published in Annals of clinical and translational neurology (01.12.2018)
Published in Annals of clinical and translational neurology (01.12.2018)
Get full text
Journal Article
Restoration of cone vision in a mouse model of achromatopsia
Hauswirth, William W, Alexander, John J, Umino, Yumiko, Everhart, Drew, Chang, Bo, Min, Seok H, Li, Qiuhong, Timmers, Adrian M, Hawes, Norman L, Pang, Ji-jing, Barlow, Robert B
Published in Nature medicine (01.06.2007)
Published in Nature medicine (01.06.2007)
Get full text
Journal Article
Immune Depletion With Cellular Mobilization Imparts Immunoregulation and Reverses Autoimmune Diabetes in Nonobese Diabetic Mice
PARKER, Matthew J, SONG XUE, EISENBEIS, Scott, WILLIAMS, John, SCHATZ, Desmond A, HALLER, Michael J, ATKINSON, Mark A, ALEXANDER, John J, WASSERFALL, Clive H, CAMPBELL-THOMPSON, Martha L, BATTAGLIA, Manuela, GREGORI, Silvia, MATHEWS, Clayton E, SIHONG SONG, TROUTT, Misty
Published in Diabetes (New York, N.Y.) (01.10.2009)
Published in Diabetes (New York, N.Y.) (01.10.2009)
Get full text
Journal Article
Persistent STAT5 phosphorylation and epigenetic dysregulation of GM-CSF and PGS2/COX2 expression in Type 1 diabetic human monocytes
Garrigan, Erin, Belkin, Nicole S, Alexander, John J, Han, Zhao, Seydel, Federica, Carter, Jamal, Atkinson, Mark, Wasserfall, Clive, Clare-Salzler, Michael J, Amick, Matthew A, Litherland, Sally A
Published in PloS one (18.10.2013)
Published in PloS one (18.10.2013)
Get full text
Journal Article
Novel Methodology for Creating Macaque Retinas with Sortable Photoreceptors and Ganglion Cells
Choudhury, Shreyasi, Strang, Christianne E, Alexander, John J, Scalabrino, Miranda L, Lynch Hill, Julie, Kasuga, Daniel T, Witherspoon, C Douglas, Boye, Sanford L, Gamlin, Paul D, Boye, Shannon E
Published in Frontiers in neuroscience (01.12.2016)
Published in Frontiers in neuroscience (01.12.2016)
Get full text
Journal Article
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
Butler, Kameryn M., da Silva, Cristina, Alexander, John J., Hegde, Madhuri, Escayg, Andrew
Published in Pediatric neurology (01.12.2017)
Published in Pediatric neurology (01.12.2017)
Get full text
Journal Article
Cardiovascular Risks with Azithromycin and Other Antibacterial Drugs
Mosholder, Andrew D, Mathew, Justin, Alexander, John J, Smith, Harry, Nambiar, Sumathi
Published in The New England journal of medicine (02.05.2013)
Published in The New England journal of medicine (02.05.2013)
Get full text
Journal Article
Early-Life Epilepsies and the Emerging Role of Genetic Testing
Berg, Anne T, Coryell, Jason, Saneto, Russell P, Grinspan, Zachary M, Alexander, John J, Kekis, Mariana, Sullivan, Joseph E, Wirrell, Elaine C, Shellhaas, Renée A, Mytinger, John R, Gaillard, William D, Kossoff, Eric H, Valencia, Ignacio, Knupp, Kelly G, Wusthoff, Courtney, Keator, Cynthia, Dobyns, William B, Ryan, Nicole, Loddenkemper, Tobias, Chu, Catherine J, Novotny, Jr, Edward J, Koh, Sookyong
Published in JAMA pediatrics (01.09.2017)
Published in JAMA pediatrics (01.09.2017)
Get more information
Journal Article
Gene therapy rescues cone function in congenital achromatopsia
Komáromy, András M., Alexander, John J., Rowlan, Jessica S., Garcia, Monique M., Chiodo, Vince A., Kaya, Asli, Tanaka, Jacqueline C., Acland, Gregory M., Hauswirth, William W., Aguirre, Gustavo D.
Published in Human molecular genetics (01.07.2010)
Published in Human molecular genetics (01.07.2010)
Get full text
Journal Article
SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport
Mattison, Kari A., Butler, Kameryn M., Inglis, George Andrew S., Dayan, Oshrat, Boussidan, Hanna, Bhambhani, Vikas, Philbrook, Bryan, Silva, Cristina, Alexander, John J., Kanner, Baruch I., Escayg, Andrew
Published in Epilepsia (Copenhagen) (01.09.2018)
Published in Epilepsia (Copenhagen) (01.09.2018)
Get full text
Journal Article
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Tortorelli, Silvia, Eckerman, Jason S, Orsini, Joseph J, Stevens, Colleen, Hart, Jeremy, Hall, Patricia L, Alexander, John J, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
Get full text
Journal Article
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
Get full text
Journal Article