List of works - Elena J Tucker

156 A Novel Mutation in the Nfkb2 Gene Generates an NFκB2 ‘Super Repressor’

article

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

scientific article published on 14 March 2018

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

scientific article published on 4 March 2024

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

scientific article published on 23 January 2014

A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

scientific article published in December 2007

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

scientific article published in 2021

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA.

scientific article

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

scientific article published on 09 November 2019

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)

scientific article published on 12 May 2020

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

scientific article published on 24 December 2021

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

article

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

scientific article published on 14 November 2022

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

scientific article published in 2022

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

scientific article

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

scientific article published on 28 June 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

scientific article

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

scientific article published on 20 June 2020

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

scientific article published on 22 December 2011

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

scientific article

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

scientific article published in 2022

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

scientific article published on 20 December 2019

Q&A: End-game winner

scientific article published in October 2015

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

scientific article published on 28 October 2019

Recent advances in the genetics of mitochondrial encephalopathies

scientific article published on July 2010

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

scientific article published on 07 July 2020

TP63-truncating variants cause isolated premature ovarian insufficiency

scientific article published on 29 March 2019

The molecular basis of human complex I deficiency.

scientific article published on 15 July 2011

List of works by Elena J Tucker

156 A Novel Mutation in the Nfkb2 Gene Generates an NFκB2 ‘Super Repressor’

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA.

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

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)

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

Q&A: End-game winner

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

Recent advances in the genetics of mitochondrial encephalopathies

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

TP63-truncating variants cause isolated premature ovarian insufficiency

The molecular basis of human complex I deficiency.