检索结果 - Schwartzentruber, Jeremy

Histone H3 Mutations in Pediatric Brain Tumors 由 Liu, Xiaoyang, McEachron, Troy A., Schwartzentruber, Jeremy, Wu, Gang

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Two cases of congenital myasthenic syndrome with vocal cord paralysis 由 Al-Shahoumi, Rashid, Brady, Lauren I., Schwartzentruber, Jeremy, Tarnopolsky, Mark A.

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Screening for functional transcriptional and splicing regulatory variants with GenIE 由 Cooper, Sarah E, Schwartzentruber, Jeremy, Bello, Erica, Coomber, Eve L, Bassett, Andrew R

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Bridging the Gap between Single Molecule and Ensemble Methods for Measuring Lateral Dynamics in the Plasma Membrane 由 Arnspang, Eva C., Schwartzentruber, Jeremy, Clausen, Mathias P., Wiseman, Paul W., Lagerholm, B. Christoffer

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A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations 由 Nazli, Aisha, Safdar, Adeel, Saleem, Ayesha, Akhtar, Mahmood, Brady, Lauren I, Schwartzentruber, Jeremy, Tarnopolsky, Mark A

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Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy 由 Khuong-Quang, Dong-Anh, Schwartzentruber, Jeremy, Westerman, Mark, Lepage, Pierre, Finberg, Karin E., Majewski, Jacek, Jabado, Nada

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Differential stability of 2′F-ANA•RNA and ANA•RNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility 由 Watts, Jonathan K., Martín-Pintado, Nerea, Gómez-Pinto, Irene, Schwartzentruber, Jeremy, Portella, Guillem, Orozco, Modesto, González, Carlos, Damha, Masad J.

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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome 由 McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease 由 McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T

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THEMIS Is Required for Pathogenesis of Cerebral Malaria and Protection against Pulmonary Tuberculosis 由 Torre, Sabrina, Faucher, Sebastien P., Fodil, Nassima, Bongfen, Silayuv E., Berghout, Joanne, Schwartzentruber, Jeremy A., Majewski, Jacek, Lathrop, Mark, Cooper, Andrea M., Vidal, Silvia M., Gros, Philippe

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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase 由 Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A., Shoubridge, Eric A.

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia 由 Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M

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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits 由 Southam, Lorraine, Gilly, Arthur, Süveges, Dániel, Farmaki, Aliki-Eleni, Schwartzentruber, Jeremy, Tachmazidou, Ioanna, Matchan, Angela, Rayner, Nigel W., Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria

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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia 由 Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T., Friend, Kathie L., Dudding, Tracy E., Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W., Douglas, Stuart, Bulman, Dennis E., Boycott, Kym M.

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GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau... 由 Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.

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Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype 由 Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.

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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria 由 Marcadier, Julien L, Smith, Amanda M, Pohl, Daniela, Schwartzentruber, Jeremy, Al-Dirbashi, Osama Y, Majewski, Jacek, Ferdinandusse, Sacha, Wanders, Ronald JA, Bulman, Dennis E, Boycott, Kym M, Chakraborty, Pranesh, Geraghty, Michael T

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Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia() 由 Xi, Yanwei, Honeywell, Christina, Zhang, Dapeng, Schwartzentruber, Jeremy, Beaulieu, Chandree L., Tetreault, Martine, Hartley, Taila, Marton, Jennifer, Vidal, Silvia M., Majewski, Jacek, Aravind, L., Gollob, Michael, Boycott, Kym M., Gow, Robert M.

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Genome-wide meta-analysis, fine-mapping, and integrative prioritization implicate new Alzheimer’s disease risk genes 由 Schwartzentruber, Jeremy, Cooper, Sarah, Liu, Jimmy Z., Barrio-Hernandez, Inigo, Bello, Erica, Kumasaka, Natsuhiko, Young, Adam M. H., Franklin, Robin J. M., Johnson, Toby, Estrada, Karol, Gaffney, Daniel J., Beltrao, Pedro, Bassett, Andrew

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Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2 由 Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Majewski, Jacek, Beaulieu, Chandree L., Boycott, Kym M., Rauch, Frank

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