| Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ... Science translational medicine 4 (118), 118ra10-118ra10, 2012 | 546 | 2012 |
| High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ... Nature genetics 42 (10), 851-858, 2010 | 423 | 2010 |
| Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum EJ Tucker, SR Grover, A Bachelot, P Touraine, AH Sinclair Endocrine reviews 37 (6), 609-635, 2016 | 225 | 2016 |
| Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation EJ Tucker, SG Hershman, C Köhrer, CA Belcher-Timme, J Patel, ... Cell metabolism 14 (3), 428-434, 2011 | 207 | 2011 |
| Respiratory chain complex I deficiency caused by mitochondrial DNA mutations H Swalwell, DM Kirby, EL Blakely, A Mitchell, R Salemi, C Sugiana, ... European Journal of Human Genetics 19 (7), 769-775, 2011 | 148 | 2011 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 135 | 2017 |
| Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression EJ Tucker, BFJ Wanschers, R Szklarczyk, HS Mountford, XW Wijeyeratne, ... PLoS genetics 9 (12), e1004034, 2013 | 130 | 2013 |
| Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes SC Lim, M Friemel, JE Marum, EJ Tucker, DL Bruno, LG Riley, ... Human molecular genetics 22 (22), 4460-4473, 2013 | 122 | 2013 |
| A novel mutation in the Nfkb2 gene generates an NF-κB2 “super repressor” E Tucker, K O’Donnell, M Fuchsberger, AA Hilton, D Metcalf, K Greig, ... The Journal of Immunology 179 (11), 7514-7522, 2007 | 85 | 2007 |
| A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome SC Lim, KR Smith, DA Stroud, AG Compton, EJ Tucker, A Dasvarma, ... The American Journal of Human Genetics 94 (2), 209-222, 2014 | 71 | 2014 |
| Recent advances in the genetics of mitochondrial encephalopathies EJ Tucker, AG Compton, DR Thorburn Current neurology and neuroscience reports 10, 277-285, 2010 | 70 | 2010 |
| Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1 M McKenzie, EJ Tucker, AG Compton, M Lazarou, C George, ... Journal of molecular biology 414 (3), 413-426, 2011 | 69 | 2011 |
| Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation EJ Tucker, M Mimaki, AG Compton, M McKenzie, MT Ryan, DR Thorburn Human mutation 33 (2), 411-418, 2012 | 67 | 2012 |
| New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing S Jaillard, K Bell, L Akloul, K Walton, K McElreavy, WA Stocker, ... Maturitas 141, 9-19, 2020 | 58 | 2020 |
| The molecular basis of human complex I deficiency EJ Tucker, AG Compton, SE Calvo, DR Thorburn IUBMB life 63 (9), 669-677, 2011 | 55 | 2011 |
| TP63‐truncating variants cause isolated premature ovarian insufficiency EJ Tucker, S Jaillard, SR Grover, J van den Bergen, G Robevska, KM Bell, ... Human mutation 40 (7), 886-892, 2019 | 43 | 2019 |
| Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice EJ Tucker, SR Grover, G Robevska, J van den Bergen, C Hanna, ... European Journal of Human Genetics 26 (9), 1319-1328, 2018 | 35 | 2018 |
| Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility S Jaillard, R Sreenivasan, M Beaumont, G Robevska, C Dubourg, ... Maturitas 131, 78-86, 2020 | 34 | 2020 |
| Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance … EJ Tucker, R Rius, S Jaillard, K Bell, PJ Lamont, A Travessa, J Dupont, ... Human genetics 139, 1325-1343, 2020 | 33 | 2020 |
| STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia S Jaillard, K McElreavy, G Robevska, L Akloul, F Ghieh, R Sreenivasan, ... Molecular human reproduction 26 (9), 665-677, 2020 | 33 | 2020 |
