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Author Details

Elena J Tucker
2007
37
19
PMIDPaper TitleJournal TitlePublished Year
37148394Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.2023
36450801LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.Eur J Hum Genet2023
35051551Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.Molecular and Cellular Endocrinology2022
35908231Genomic testing in premature ovarian insufficiency: proceed with caution.Biol Reprod2022
36074910Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.J Clin Endocrinol Metab2022
35609520Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.Cytogenetic and Genome Research2022
36421788Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.Genes (Basel)2022
34727551The Genetics and Biology of FOXL2.Sexual Development2022
34967858Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment.Endocrine Reviews2022
35134173Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.Hum Mol Genet2022
34707299Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.European Journal of Human Genetics2022
35054416HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation.Life2021
34647195A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.Hum Genet2021
32634216STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.Molecular Human Reproduction2020
31787151Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.2020
32399598Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).Hum Genet2020
33036707New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.2020
31659207Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.Scientific Reports2019
31865337Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.Cytogenet Genome Res2019
2954085422q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.Journal of Human Genetics2018
29706645Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.European Journal of Human Genetics2018
28549128ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Brain2017
27690531Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.Endocrine Reviews2016
26488243Q&A: End-game winner.Nature2015
24462369A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Am J Hum Genet2014
24385928Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.PLoS Genet2013
23814038Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.Hum Mol Genet2013
22072591Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.Human Mutation2012
22277967Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Sci Transl Med2012
22019594Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.Journal of Molecular Biology2011
21486252Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA.BioTechniques2011
21364701Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Eur J Hum Genet2011
21766414The molecular basis of human complex I deficiency.IUBMB Life2011
21907147Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Cell Metab2011
20446063Recent advances in the genetics of mitochondrial encephalopathies.Current Neurology and Neuroscience Reports2010
20818383High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.Nat Genet2010
18025196A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".Journal of Immunology2007
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