| Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ... Nature genetics 15 (1), 62-69, 1997 | 1895 | 1997 |
| Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α GV Di Prisco, W Huang, SA Buffington, CC Hsu, PE Bonnen, AN Placzek, ... Nature neuroscience 17 (8), 1073-1082, 2014 | 190 | 2014 |
| Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance PE Bonnen, JW Yarham, A Besse, P Wu, EA Faqeih, AM Al-Asmari, ... The American Journal of Human Genetics 93 (3), 471-481, 2013 | 161 | 2013 |
| Identification of variant-specific functions of PIK3CA by rapid phenotyping of rare mutations T Dogruluk, YH Tsang, M Espitia, F Chen, T Chen, Z Chong, V Appadurai, ... Cancer research 75 (24), 5341-5354, 2015 | 154 | 2015 |
| The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism A Besse, P Wu, F Bruni, T Donti, BH Graham, WJ Craigen, R McFarland, ... Cell metabolism 21 (3), 417-427, 2015 | 154 | 2015 |
| Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ... The American Journal of Human Genetics 99 (4), 860-876, 2016 | 129 | 2016 |
| Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 119 | 2016 |
| Haplotype and linkage disequilibrium architecture for human cancer-associated genes PE Bonnen, PJ Wang, M Kimmel, R Chakraborty, DL Nelson Genome research 12 (12), 1846-1853, 2002 | 116 | 2002 |
| mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities J Ma, C Coarfa, X Qin, PE Bonnen, A Milosavljevic, J Versalovic, ... BMC genomics 15, 1-14, 2014 | 108 | 2014 |
| LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population M Oláhová, SA Hardy, J Hall, JW Yarham, TB Haack, WC Wilson, ... Brain 138 (12), 3503-3519, 2015 | 105 | 2015 |
| Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of~ 60,000 human exomes V Appadurai, A DeBarber, PW Chiang, SB Patel, RD Steiner, C Tyler, ... Molecular genetics and metabolism 116 (4), 298-304, 2015 | 93 | 2015 |
| Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 91 | 2015 |
| Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium PE Bonnen, MD Story, CL Ashorn, TA Buchholz, MM Weil, DL Nelson The American Journal of Human Genetics 67 (6), 1437-1451, 2000 | 91 | 2000 |
| First Complete Genome Sequence of Two Staphylococcus epidermidis Bacteriophages A Daniel, PE Bonnen, VA Fischetti Journal of bacteriology 189 (5), 2086-2100, 2007 | 87 | 2007 |
| Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy S Ait-El-Mkadem, M Dayem-Quere, M Gusic, A Chaussenot, S Bannwarth, ... The American Journal of Human Genetics 100 (1), 151-159, 2017 | 82 | 2017 |
| Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia PE Bonnen, I Pe'er, RM Plenge, J Salit, JK Lowe, MH Shapero, RP Lifton, ... Nature genetics 38 (2), 214-217, 2006 | 79 | 2006 |
| OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect K Thompson, N Mai, M Oláhová, F Scialó, LE Formosa, DA Stroud, ... EMBO Molecular Medicine 10 (11), e9060, 2018 | 69 | 2018 |
| SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) D Lenz, P McClean, A Kansu, PE Bonnen, G Ranucci, C Thiel, BK Straub, ... Genetics in Medicine 20 (10), 1255-1265, 2018 | 64 | 2018 |
| De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction N Ehmke, L Graul-Neumann, L Smorag, R Koenig, L Segebrecht, ... The American Journal of Human Genetics 101 (5), 833-843, 2017 | 64 | 2017 |
| TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities W Wiszniewski, JV Hunter, NA Hanchard, JR Willer, C Shaw, Q Tian, ... The American Journal of Human Genetics 93 (2), 197-210, 2013 | 64 | 2013 |
