Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Murdock, David R, Dai, Hongzheng, Burrage, Lindsay C, Rosenfeld, Jill A, Ketkar, Shamika, Müller, Michaela F, Yépez, Vicente A, Gagneur, Julien, Liu, Pengfei, Chen, Shan, Jain, Mahim, Zapata, Gladys, Bacino, Carlos A, Chao, Hsiao-Tuan, Moretti, Paolo, Craigen, William J, Hanchard, Neil A, Lee, Brendan
Published in The Journal of clinical investigation (04.01.2021)
Published in The Journal of clinical investigation (04.01.2021)
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MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress
Nemani, Neeharika, Carvalho, Edmund, Tomar, Dhanendra, Dong, Zhiwei, Ketschek, Andrea, Breves, Sarah L., Jaña, Fabián, Worth, Alison M., Heffler, Julie, Palaniappan, Palaniappan, Tripathi, Aparna, Subbiah, Ramasamy, Riitano, Massimo F., Seelam, Ajay, Manfred, Thomas, Itoh, Kie, Meng, Shuxia, Sesaki, Hiromi, Craigen, William J., Rajan, Sudarsan, Shanmughapriya, Santhanam, Caplan, Jeffrey, Prosser, Benjamin L., Gill, Donald L., Stathopulos, Peter B., Gallo, Gianluca, Chan, David C., Mishra, Prashant, Madesh, Muniswamy
Published in Cell reports (Cambridge) (24.04.2018)
Published in Cell reports (Cambridge) (24.04.2018)
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Journal Article
Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury
Nowak, Grazyna, Megyesi, Judit, Craigen, William J
Published in Biomolecules (Basel, Switzerland) (10.04.2020)
Published in Biomolecules (Basel, Switzerland) (10.04.2020)
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Journal Article
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
Qin, Lan, Wang, Jing, Tian, Xia, Yu, Hui, Truong, Cavatina, Mitchell, John J, Wierenga, Klaas J, Craigen, William J, Zhang, Victor Wei, Wong, Lee-Jun C
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
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Journal Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Published in Brain (London, England : 1878) (01.07.2010)
Published in Brain (London, England : 1878) (01.07.2010)
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Journal Article
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu, Simcox, Eve M., Miwa, Satomi, Donti, Taraka, Abu-Amero, Khaled K., Wong, Lee-Jun, Craigen, William J., Graham, Brett H., Scott, Kenneth L., McFarland, Robert, Taylor, Robert W.
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria
Roy, Soumya Sinha, Ehrlich, Amy M, Craigen, William J, Hajnóczky, György
Published in EMBO reports (01.12.2009)
Published in EMBO reports (01.12.2009)
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Journal Article
Properties of the permeability transition in VDAC1 −/− mitochondria
Krauskopf, Alexandra, Eriksson, Ove, Craigen, William J., Forte, Michael A., Bernardi, Paolo
Published in Biochimica et biophysica acta (01.05.2006)
Published in Biochimica et biophysica acta (01.05.2006)
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Journal Article
Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor
Lazarou, Michael, Stojanovski, Diana, Frazier, Ann E., Kotevski, Aneta, Dewson, Grant, Craigen, William J., Kluck, Ruth M., Vaux, David L., Ryan, Michael T.
Published in The Journal of biological chemistry (19.11.2010)
Published in The Journal of biological chemistry (19.11.2010)
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Journal Article
Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1
Chen, Yumay, Craigen, William J., Riley, Daniel J.
Published in Cell cycle (Georgetown, Tex.) (15.01.2009)
Published in Cell cycle (Georgetown, Tex.) (15.01.2009)
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Journal Article
Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects
Tang, Sha, Wang, Jing, Zhang, Victor Wei, Li, Fang-Yuan, Landsverk, Megan, Cui, Hong, Truong, Cavatina K., Wang, Guoli, Chen, Li Chieh, Graham, Brett, Scaglia, Fernando, Schmitt, Eric S., Craigen, William J., Wong, Lee-Jun C.
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Journal Article
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis
Kennedy, Adam D, Pappan, Kirk L, Donti, Taraka, Delgado, Mauricio R, Shinawi, Marwan, Pearson, Toni S, Lalani, Seema R, Craigen, William E, Sutton, V Reid, Evans, Anne M, Sun, Qin, Emrick, Lisa T, Elsea, Sarah H
Published in Frontiers in neuroscience (08.05.2019)
Published in Frontiers in neuroscience (08.05.2019)
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Journal Article
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
Mohapatra, Bhagyalaxmi, Casey, Brett, Li, Hua, Ho-Dawson, Trang, Smith, Liana, Fernbach, Susan D., Molinari, Laura, Niesh, Stephen R., Jefferies, John Lynn, Craigen, William J., Towbin, Jeffrey A., Belmont, John W., Ware, Stephanie M.
Published in Human molecular genetics (01.03.2009)
Published in Human molecular genetics (01.03.2009)
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Journal Article
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus
Lai, Yi-Chen, Baker, J Scott, Donti, Taraka, Graham, Brett H, Craigen, William J, Anderson, Anne E
Published in International journal of molecular sciences (12.07.2017)
Published in International journal of molecular sciences (12.07.2017)
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Journal Article
Mitochondrial DNA maintenance defects
El-Hattab, Ayman W, Craigen, William J, Scaglia, Fernando
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
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