关注
Elena Tucker
标题
引用次数
引用次数
年份
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
5462012
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
4232010
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
2252016
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
2072011
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
1482011
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
1352017
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
1302013
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
1222013
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
852007
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
712014
Recent advances in the genetics of mitochondrial encephalopathies
EJ Tucker, AG Compton, DR Thorburn
Current neurology and neuroscience reports 10, 277-285, 2010
702010
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
692011
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
672012
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
582020
The molecular basis of human complex I deficiency
EJ Tucker, AG Compton, SE Calvo, DR Thorburn
IUBMB life 63 (9), 669-677, 2011
552011
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
432019
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
352018
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
342020
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
332020
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
332020
系统目前无法执行此操作,请稍后再试。
文章 1–20