Search Results - "Brownstein, Catherine A."

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States by 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 Gw, Brownstein, Catherine A, Margulies, David M, Yu, Timothy W, Salih, Mustafa A, Kunkel, Louis M, MacArthur, Daniel G, Kang, Peter B

“…The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families…”
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes by Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M, Nori, Neeharika, Madden, Jill A, Genetti, Casie A, Wojcik, Monica H, Ponnaluri, Sadhana, Gubbels, Cynthia S, Picker, Jonathan D, O'Donnell-Luria, Anne H, Yu, Timothy W, Bodamer, Olaf, Brownstein, Catherine A, Beggs, Alan H, Agrawal, Pankaj B

“…Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic…”
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Early role for a Na⁺,K⁺-ATPase (ATP1A3) in brain development by 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., e Vairo, Filippo Pinto, Morava, Eva, Barkovich, A. James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A., McCarroll, Steven A., Walsh, Christopher A.

“…Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na⁺) and potassium (K⁺) ions across the plasma…”
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translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism by Brownstein, Catherine A, Adler, Felix, Nelson-Williams, Carol, Iijima, Junko, Li, Peining, Imura, Akihiro, Nabeshima, Yo-ichi, Reyes-Mugica, Miguel, Carpenter, Thomas O, Lifton, Richard P

“…Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced…”
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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings by 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

“…ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family…”
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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons by 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

“…16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of…”
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SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures by Palmer, Samantha, BA, Towne, Meghan C., MS, LGC, Pearl, Phillip L., MD, Pelletier, Renee C., BA, Genetti, Casie A., MS, CGC, Shi, Jiahai, PhD, Beggs, Alan H., PhD, Agrawal, Pankaj B., MD, MMSC, Brownstein, Catherine A., MPH, PhD

“…Abstract Background Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants…”
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Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants by 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

“…Children and adolescents with early-onset psychosis (EOP) have more rare genetic variants than individuals with adult-onset forms of the illness, implying that…”
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Genetic Predisposition to Neurological Complications in Patients with COVID-19 by 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

“…Several studies have identified rare and common genetic variants associated with severe COVID-19, but no study has reported genetic determinants as…”
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Current knowledge of SLC6A1-related neurodevelopmental disorders by 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

“…Abstract Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental…”
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Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series by 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

“…Erythromelalgia is a descriptive term for severe burning pain and erythema in the distal extremities relieved by cold and exacerbated by heat. Pediatric case…”
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Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort by 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.

“…Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain…”
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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis by 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

“…CAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a…”
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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 by 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

“…TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling…”
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The role of sodium channels in sudden unexpected death in pediatrics by Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.

“…Background Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of…”
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Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age by 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.

“…In sudden unexplained death in pediatrics (SUDP) the cause of death is unknown despite an autopsy and investigation. The role of copy number variations (CNVs)…”
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Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse by Brownstein, Catherine A, Zhang, Junhui, Stillman, Althea, Ellis, Bruce, Troiano, Nancy, Adams, Douglas J, Gundberg, Caren M, Lifton, Richard P, Carpenter, Thomas O

“…Inactivating mutations of PHEX cause X-linked hypophosphatemia and result in increased circulating fibroblast growth factor 23 (FGF23). FGF23 action is…”
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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders by 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.

“…Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data…”
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Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain by Dias, Caroline, Mo, Alisa, Cai, Chunhui, Sun, Liang, Cabral, Kristen, Brownstein, Catherine A, Rockowitz, Shira, Walsh, Christopher A

“…Recurrent copy-number variation represents one of the most well-established genetic drivers in neurodevelopmental disorders, including autism spectrum…”
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De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome by 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

“…Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old…”
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