Elena Tucker

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

Sylvie Jaillard, Katrina Bell, Linda Akloul, Kelly Walton, Kenneth McElreavy, William A Stocker, Marion Beaumont, Craig Harrisson, Tiina Jaaskelainen, Jorma J Palvimo, Gorjana Robevska, Erika Launay, Anne-Pascale Satie, Nurin Listyasari, Claude Bendavid, Rajini Sreenivasan, Solene Duros, Jocelyn van den Bergen, Catherine Henry, Mathilde Domin-Bernhard, et al.

Journal article  |  2020  |  Maturitas

Ovarian deficiency, including premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR), represents one of the ma..

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

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficienc..

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, Benedicte Nouyou, Francois Vialard, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Sylvie Odent, Celia 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..

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..

Genetics and Genomics of Primary Ovarian Insufficiency

Elena J Tucker, Sylvie Jaillard, Andrew H Sinclair

Book Chapter  |  2019

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