Elena Tucker

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, M Beaumont, C Harrisson, T Jääskeläinen, JJ Palvimo, G Robevska, E Launay, AP Satié, N Listyasari, C Bendavid, R Sreenivasan, S Duros, J van den Bergen, C Henry, M Domin-Bernhard, et al.

Journal article  |  2020  |  Maturitas

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

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joelle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Bénédicte Nouyou, François Vialard, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Sylvie Odent, Célia Ravel, et al.

Journal article  |  2020  |  Molecular Human Reproduction

Infertility, a global problem affecting up to 15% of couples, can have varied causes ranging from natural ageing to the pathologic..

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)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn, et al.

Journal article  |  2020  |  Human Genetics

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

Sylvie Jaillard, Rajini Sreenivasan, Marion Beaumont, Gorjana Robevska, Christele Dubourg, Ingrid M Knarston, Linda Akloul, Jocelyn van den Bergen, Sylvie Odent, Brittany Croft, Guilhem Jouve, Sonia R Grover, Solene Duros, Celine Pimentel, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Celia Ravel, Elena J Tucker, Andrew H Sinclair

Journal article  |  2020  |  Maturitas

Ovarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of..

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

Sarah A Jones, Stuart Cantsilieris, Huapeng Fan, Qiang Cheng, Brendan E Russ, Elena J Tucker, James Harris, Ina Rudloff, Marcel Nold, Melissa Northcott, Wendy Dankers, Andrew EJ Toh, Stefan J White, Eric F Morand

Journal article  |  2019  |  Scientific Reports

Personalized medicine approaches are increasingly sought for diseases with a heritable component. Systemic lupus erythematosus (SL..

TP63-truncating variants cause isolated premature ovarian insufficiency

Elena J Tucker, Sylvie Jaillard, Sonia R Grover, Jocelyn van den Bergen, Gorjana Robevska, Katrina M Bell, Simon Sadedin, Chloe Hanna, Jerome Dulon, Philippe Touraine, Andrew H Sinclair

Journal article  |  2019  |  Human Mutation

Premature ovarian insufficiency involves amenorrhea and elevated follicle-stimulating hormone before age 40, and its genetic basis..

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

Marion Beaumont, Elena J Tucker, Laura Mary, Erika Launay, Yann Lurton, Celine Pimentel, Paul Rollier, Linda Akloul, Claire Beneteau, Solene Chevallier-Bordeau, Anne-Sophie Neyroud, Olivier Pichon, Celia Ravel, Sylvie Odent, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard

Journal article  |  2019  |  Cytogenetic and Genome Research

Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies (related to..

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

Elena J Tucker, Sonia R Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrew H Sinclair

Journal article  |  2018  |  European Journal of Human Genetics

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

Sylvie Jaillard, Elena J Tucker, Linda Akloul, Marion Beaumont, Mathilde Domin, Laurent Pasquier, Guilhem Jouve, Sylvie Odent, Marc-Antoine Belaud-Rotureau, Celia Ravel

Journal article  |  2018  |  Journal of Human Genetics

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

Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice LR Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, et al.

Journal article  |  2017  |  Brain

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

Elena J Tucker, Sonia R Grover, Anne Bachelot, Philippe Touraine, Andrew H Sinclair

Journal article  |  2016  |  Endocrine Reviews

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Journal article  |  2014  |  American Journal of Human Genetics

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Elena J Tucker, Bas FJ Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariel AM van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljic, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

Journal article  |  2013  |  PLOS GENETICS

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

Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkuehler, David R Thorburn, Alison G Compton

Journal article  |  2013  |  Human Molecular Genetics

Next-Generation Sequencing in Molecular Diagnosis: NUBPL Mutations Highlight the Challenges of Variant Detection and Interpretation

Elena J Tucker, Masakazu Mimaki, Alison G Compton, Matthew McKenzie, Michael T Ryan, David R Thorburn

Journal article  |  2012  |  Human Mutation

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe, John Christodoulou, Janice M Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R Thorburn, Vamsi K Mootha

Journal article  |  2012  |  Science Translational Medicine

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Helen Swalwell, Denise M Kirby, Emma L Blakely, Anna Mitchell, Renato Salemi, Canny Sugiana, Alison G Compton, Elena J Tucker, Xia Ke, Phillipa J Lamont, Douglass M Turnbull, Robert McFarland, Robert W Taylor, David R Thorburn

Journal article  |  2011  |  European Journal of Human Genetics