Search Results - "Otieno, Frederick G."

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis by Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon

“…Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle,…”
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder by Keller, Michael D., MD, Pandey, Rahul, PhD, Li, Dong, PhD, Glessner, Joseph, PhD, Tian, Lifeng, PhD, Henrickson, Sarah E., MD, PhD, Chinn, Ivan K., MD, Monaco-Shawver, Linda, BSc, Heimall, Jennifer, MD, Hou, Cuiping, BSc, Otieno, Frederick G., MS, Jyonouchi, Soma, MD, Calabrese, Leonard, DO, van Montfrans, Joris, MD, Orange, Jordan S., MD, PhD, Hakonarson, Hakon, MD, PhD

“…Background Genome-wide association studies have shown a pattern of rare copy number variations and single nucleotide polymorphisms in patients with common…”
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Whole-genome sequencing in an autism multiplex family by Shi, Lingling, Zhang, Xu, Golhar, Ryan, Otieno, Frederick G, He, Mingze, Hou, Cuiping, Kim, Cecilia, Keating, Brendan, Lyon, Gholson J, Wang, Kai, Hakonarson, Hakon

“…Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing…”
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Strong synaptic transmission impact by copy number variations in schizophrenia by Glessner, Joseph T., Reilly, Muredach P., Kim, Cecilia E., Takahashi, Nagahide, Albano, Anthony, Hou, Cuiping, Bradfield, Jonathan P., Zhang, Haitao, Sleiman, Patrick M. A., Flory, James H., Imielinski, Marcin, Frackelton, Edward C., Chiavacci, Rosetta, Thomas, Kelly A., Garris, Maria, Otieno, Frederick G., Davidson, Michael, Weiser, Mark, Reichenberg, Abraham, Davis, Kenneth L., Friedman, Joseph I., Cappola, Thomas P., Margulies, Kenneth B., Rader, Daniel J., Grant, Struan F. A., Buxbaum, Joseph D., Gur, Raquel E., Hakonarson, Hakon, Lupski, James R.

“…Schizophrenia is a psychiatric disorder with onset in late adolescence and unclear etiology characterized by both positive and negative symptoms, as well as…”
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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement by Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon

“…Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the…”
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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate by Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Yiran, Guo, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

“…Background: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for…”
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Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population by Matsunami, Nori, Hensel, Charles H, Baird, Lisa, Stevens, Jeff, Otterud, Brith, Leppert, Tami, Varvil, Tena, Hadley, Dexter, Glessner, Joseph T, Pellegrino, Renata, Kim, Cecilia, Thomas, Kelly, Wang, Fengxiang, Otieno, Frederick G, Ho, Karen, Christensen, Gerald B, Li, Dongying, Prekeris, Rytis, Lambert, Christophe G, Hakonarson, Hakon, Leppert, Mark F

“…Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal…”
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Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate by Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Guo, Yiran, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

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A novel mutation in the SLC25A12 gene causing mitochondrial aspartate/glutamate carrier 1 (AGC1) deficiency by Falk, Marni J., Lasorsa, Francesco M., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Fiermonte, Giuseppe, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Guo, Yiran, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

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