Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

Por Koenig, Mary Kay, Bonnen, Penelope E.
Publicado no JIMD Rep (2018)

First Complete Genome Sequence of Two Staphylococcus epidermidis Bacteriophages

Por Daniel, Anu, Bonnen, Penelope E., Fischetti, Vincent A.
Publicado em 2007

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

Por Larson, Austin, Weisfeld-Adams, James D., Benke, Tim A., Bonnen, Penelope E.
Publicado no JIMD Rep (2016)

Haplotype and Linkage Disequilibrium Architecture for Human Cancer-Associated Genes

Por Bonnen, Penelope E., Wang, Peggy J., Kimmel, Marek, Chakraborty, Ranajit, Nelson, David L.
Publicado em 2002

WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype

Por Bacino, Carlos A., Dhar, Shweta U., Brunetti-Pierri, Nicola, Lee, Brendan, Bonnen, Penelope E.
Publicado em 2012

mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities

Por Ma, Jun, Coarfa, Cristian, Qin, Xiang, Bonnen, Penelope E, Milosavljevic, Aleksandar, Versalovic, James, Aagaard, Kjersti
Publicado no BMC Genomics (2014)

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

Por Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E
Publicado em 2013

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Por Ballout, Rami A., Al Alam, Chadi, Bonnen, Penelope E., Huemer, Martina, El-Hattab, Ayman W., Shbarou, Rolla
Publicado no Front Genet (2019)

Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium

Por Bonnen, Penelope E., Story, Michael D., Ashorn, Cheryl L., Buchholz, Thomas A., Weil, Michael M., Nelson, David L.
Publicado em 2000

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

Por Appadurai, Vivek, DeBarber, Andrea, Chiang, Pei-Wen, Patel, Shailendra B., Steiner, Robert D, Tyler, Charles, Bonnen, Penelope E.
Publicado no Mol Genet Metab (2015)

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

Por Bonnen, Penelope E, Lowe, Jennifer K, Altshuler, David M, Breslow, Jan L, Stoffel, Markus, Friedman, Jeffrey M, Pe'er, Itsik
Publicado em 2010

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease

Por Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Publicado no Mol Genet Metab (2015)

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Por Dodson, Lois M., Baldan, Alessandro, Nissbeck, Mikael, Gunja, Sethu M. R., Bonnen, Penelope E., Aubert, Geraldine, Birchansky, Sherri, Virtanen, Anders, Bertuch, Alison A.
Publicado no Hum Mutat (2019)

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Por Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Publicado no Hum Mutat (2018)

Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α

Por Viana Di Prisco, Gonzalo, Huang, Wei, Buffington, Shelly A, Hsu, Chih-Chun, Bonnen, Penelope E, Placzek, Andon N, Sidrauski, Carmela, Krnjević, Krešimir, Kaufman, Randal J, Walter, Peter, Costa-Mattioli, Mauro
Publicado no Nat Neurosci (2014)

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

Por Besse, Arnaud, Wu, Ping, Bruni, Francesco, Donti, Taraka, Graham, Brett H., Craigen, William J., McFarland, Robert, Moretti, Paolo, Lalani, Seema, Scott, Kenneth L., Taylor, Robert W., Bonnen, Penelope E.
Publicado no Cell Metab (2015)

Phenotype of GABA-transaminase deficiency

Por Koenig, Mary Kay, Hodgeman, Ryan, Riviello, James J., Chung, Wendy, Bain, Jennifer, Chiriboga, Claudia A., Ichikawa, Kazushi, Osaka, Hitoshi, Tsuji, Megumi, Gibson, K. Michael, Bonnen, Penelope E., Pearl, Phillip L.
Publicado no Neurology (2017)

Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations

Por Dogruluk, Turgut, Tsang, Yiu Huen, Espitia, Maribel, Chen, Fengju, Chen, Tenghui, Chong, Zechen, Appadurai, Vivek, Dogruluk, Armel, Eterovic, Agna Karina, Bonnen, Penelope E., Creighton, Chad J., Chen, Ken, Mills, Gordon B., Scott, Kenneth L.
Publicado no Cancer Res (2015)

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

Por Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I. C., Carbo, Miriam, Hardy, Steven A., Falkous, Gavin, He, Langping, Cerbelli, Bruna, Pignataro, Maria Gemma, Zacara, Elisabetta, Re, Federica, Della Monica, Paola Lilla, Morea, Veronica, Bonnen, Penelope E., Taylor, Robert W., d’Amati, Giulia, Giordano, Carla
Publicado no Sci Rep (2019)

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Por Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Publicado no Am J Med Genet A (2018)