The role of sodium channels in sudden unexpected death in pediatrics

por Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.
Publicado 2020

Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series

por Sun, Jenny, Ocay, Don Daniel, Halpin, Meghan, Lobo, Kimberly, Frohman, Dafni F. T., Donado, Carolina, Brownstein, Catherine A., Genetti, Casie A., Madden, Anna, Berde, Charles B.
Publicado 2023

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

por Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius
Publicado 2022

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

por Hojlo, Margaret A., Ghebrelul, Merhawi, Genetti, Casie A., Smith, Richard, Rockowitz, Shira, Deaso, Emma, Beggs, Alan H., Agrawal, Pankaj B., Glahn, David C., Gonzalez-Heydrich, Joseph, Brownstein, Catherine A.
Publicado 2023

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

por Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.
Publicado 2017

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

por Estrella, Elicia, Rockowitz, Shira, Thorne, Marielle, Smith, Pressley, Petit, Jeanette, Zehnder, Veronica, Yu, Richard N., Bauer, Stuart, Berde, Charles, Agrawal, Pankaj B., Beggs, Alan H., Gharavi, Ali G., Kunkel, Louis, Brownstein, Catherine A.
Publicado 2022

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

por Brownstein, Catherine A., Douard, Elise, Haynes, Robin L., Koh, Hyun Yong, Haghighi, Alireza, Keywan, Christine, Martin, Bree, Alexandrescu, Sanda, Haas, Elisabeth A., Vargas, Sara O., Wojcik, Monica H., Jacquemont, Sébastien, Poduri, Annapurna H., Goldstein, Richard D., Holm, Ingrid A.
Publicado 2022

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

por Mavros, Chrystal F., Brownstein, Catherine A., Thyagrajan, Roshni, Genetti, Casie A., Tembulkar, Sahil, Graber, Kelsey, Murphy, Quinn, Cabral, Kristin, VanNoy, Grace E., Bainbridge, Matthew, Shi, Jiahai, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Gonzalez-Heydrich, Joseph
Publicado 2018

Genetic Predisposition to Neurological Complications in Patients with COVID-19

por Sahajpal, Nikhil Shri, Hastie, Alex R., Schieck, Maximilian, Mondal, Ashis K., Felde, Marc, van der Made, Caspar I., Chou, Janet S., Randolph, Adrienne G., Illig, Thomas, Zody, Michael C., Brownstein, Catherine A., Beggs, Alan H., Hoischen, Alexander, Chaubey, Alka, Kolhe, Ravindra
Publicado 2023

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

por Buttermore, Elizabeth D., Anderson, Nickesha C., Chen, Pin-Fang, Makhortova, Nina R., Kim, Kristina H., Wafa, Syed M. A., Dwyer, Sean, Micozzi, John M., Winden, Kellen D., Zhang, Bo, Han, Min-Joon, Kleiman, Robin J., Brownstein, Catherine A., Sahin, Mustafa, Gonzalez-Heydrich, Joseph
Publicado 2022

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

por Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Han, Min-Joon, Torres, Alcy, Berry, Gerard T., Yu, Timothy W., Beggs, Alan H., Agrawal, Pankaj B., Gonzalez-Heydrich, Joseph
Publicado 2016

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

por Reddy, Hemakumar M., Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D., Mitsuhashi, Satomi, Darras, Basil T., Amato, Anthony A., Lidov, Hart G.W., Brownstein, Catherine A., Margulies, David M., Yu, Timothy W., Salih, Mustafa A., Kunkel, Louis M., MacArthur, Daniel G., Kang, Peter B.
Publicado 2016

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

por Rockowitz, Shira, LeCompte, Nicholas, Carmack, Mary, Quitadamo, Andrew, Wang, Lily, Park, Meredith, Knight, Devon, Sexton, Emma, Smith, Lacey, Sheidley, Beth, Field, Michael, Holm, Ingrid A., Brownstein, Catherine A., Agrawal, Pankaj B., Kornetsky, Susan, Poduri, Annapurna, Snapper, Scott B., Beggs, Alan H., Yu, Timothy W., Williams, David A., Sliz, Piotr
Publicado 2020

Current knowledge of SLC6A1-related neurodevelopmental disorders

por Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis
Publicado 2020

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

por Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
Publicado 2021

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

por Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S. K., Vargas, Sara O., Luo, Shiyu, Rosen, Samantha M., Madden, Jill A., Genetti, Casie A., Brabek, Jan, Brownstein, Catherine A., Kazerounian, Shideh, Raby, Benjamin A., Schmitz-Abe, Klaus, Kennedy, John C., Fishman, Martha P., Mullen, Mary P., Taylor, Joan M., Rosel, Daniel, Agrawal, Pankaj B.
Publicado 2021

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

por Parikh, Jignesh R., Genetti, Casie A., Aykanat, Asli, Brownstein, Catherine A., Schmitz-Abe, Klaus, Danowski, Morgan, Quitadomo, Andrew, Madden, Jill A., Yacoubian, Calum, Gain, Richard, Williams, Tessa, Meskell, Mary, Brown, Andrew, Frith, Alison, Rockowitz, Shira, Sliz, Piotr, Agrawal, Pankaj B., Defay, Thomas, McDonagh, Paul, Reynders, John, Lefebvre, Sebastien, Beggs, Alan H.
Publicado 2021

Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development

por Smith, Richard S., Florio, Marta, Akula, Shyam K., Neil, Jennifer E., Wang, Yidi, Hill, R. Sean, Goldman, Melissa, Mullally, Christopher D., Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B., Pinto e Vairo, Filippo, Morava, Eva, Barkovich, A. James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A., McCarroll, Steven A., Walsh, Christopher A.
Publicado 2021

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

por Torres, Alcy, Brownstein, Catherine A., Tembulkar, Sahil K., Graber, Kelsey, Genetti, Casie, Kleiman, Robin J., Sweadner, Kathleen J., Mavros, Chrystal, Liu, Kevin X., Smedemark-Margulies, Niklas, Maski, Kiran, Yang, Edward, Agrawal, Pankaj B., Shi, Jiahai, Beggs, Alan H., D'Angelo, Eugene, Lincoln, Sarah Hope, Carroll, Devon, Dedeoglu, Fatma, Gahl, William A., Biggs, Catherine M., Swoboda, Kathryn J., Berry, Gerard T., Gonzalez-Heydrich, Joseph
Publicado 2018

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