Elena J. Tucker
Australian geneticist and medical genomics researcher
Elena J. Tucker's AcademicInfluence.com Rankings
Download Badge
Biology
Elena J. Tucker's Degrees
- PhD Medical Genomics University of Melbourne
Why Is Elena J. Tucker Influential?
(Suggest an Edit or Addition)According to Wikipedia, Elena Jane Tucker is an Australian geneticist and medical genomics researcher and a 2016 Rising Talent in the L'Oréal-UNESCO For Women in Science Awards. Biography Tucker earned her B.S. at University of Melbourne in 2006. She earned her Ph.D in medical genomics at the same university's Murdoch Children's Research Institute in 2011 focusing on using new approaches to genomics to improve the diagnosis and management of patients with mitochondrial disease. She continues to work there as a research fellow, investigating the molecular basis of disorders of sex development.
Elena J. Tucker's Published Works
Published Works
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing (2012) (435)
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (2010) (366)
- Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. (2011) (154)
- Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum. (2016) (150)
- Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (2011) (107)
- Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression (2013) (103)
- Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. (2013) (93)
- ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism (2017) (92)
- A Novel Mutation in the Nfkb2 Gene Generates an NF-κB2 “Super Repressor”1 (2007) (64)
- A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (2014) (60)
- Recent Advances in the Genetics of Mitochondrial Encephalopathies (2010) (56)
- Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. (2011) (56)
- Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation (2012) (53)
- A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor". (2007) (41)
- The molecular basis of human complex I deficiency (2011) (39)
- TP63‐truncating variants cause isolated premature ovarian insufficiency (2019) (28)
- Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice (2018) (27)
- New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. (2020) (25)
- Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. (2020) (22)
- Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM) (2020) (20)
- STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia. (2020) (18)
- Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus (2019) (14)
- ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism (2017) (11)
- A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss (2021) (10)
- 156 A Novel Mutation in the Nfkb2 Gene Generates an NFκB2 ‘Super Repressor’ (2007) (8)
- The Genetics and Biology of FOXL2 (2021) (7)
- Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes (2021) (6)
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency (2018) (4)
- Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights (2022) (3)
- Genetics and Genomics of Primary Ovarian Insufficiency (2019) (3)
- Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia (2019) (3)
- HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation (2021) (2)
- Genomic testing in premature ovarian insufficiency: proceed with caution (2022) (2)
- Whole exome sequencing reveals copy number variants in individuals with disorders of sex development (2022) (2)
- Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency (2022) (2)
- Q&A: End-game winner (2015) (2)
- LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss (2022) (2)
- CONTROL OF APOPTOSIS BY THE BCL-2 PROTEIN FAMILY AND ITS IMPLICATIONS FOR CANCER DEVELOPMENT AND THERAPY (2011) (1)
- Stem cells and organs-on-chips: new promising technologies for human infertility treatment. (2021) (1)
- Mammalian Sex Determination (2013) (1)
- Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted (2012) (0)
- Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes (2021) (0)
- B 2 ' ' Super Repressor ' ' κ Generates an NF-Gene Nfkb 2 A Novel Mutation in the (2007) (0)
- Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency (2022) (0)
- Religion and Race: In the Age of Barack Obama, Our First African American President (2011) (0)
- Abstracts for the 35th Human Genetics Society of Australasia Annual Scientific Meeting, Gold Coast, Australia July 31–August 3, 2011 (2011) (0)
- P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (2011) (0)
- Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia (2022) (0)
- Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice (2018) (0)
- 74 A splice-site mutation in C8orf38 causes impaired Complex I assembly due to a defect in translation or integration of ND1 into an early assembly intermediate (2010) (0)
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency (2018) (0)
- Mitochondrial complex I deficiency: new technologies, new genes and new insights (2011) (0)
- Q&a elizabeth blackburn: End-game winner (2015) (0)
- Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. (2022) (0)
This paper list is powered by the following services:
Other Resources About Elena J. Tucker
What Schools Are Affiliated With Elena J. Tucker?
Elena J. Tucker is affiliated with the following schools: